2019 APHL Newborn Screening and Genetic Testing Symposium...6 | 2019 APHL Newborn Screening and...

2019 APHL Newborn Screening and Genetic Testing Symposium

Final Program

April 7 – 10, 2019Chicago, IL

Strong Foundations Lead to New Heights

#nbsgtswww.aphl.org /nbsgts

Meeting at a GlanceTIME SUNDAY, APRIL 7 MONDAY, APRIL 8 TUESDAY, APRIL 9 WEDNESDAY, APRIL 10

7:00 am

Roundtables (3)

Innovate! (3)

Roundtables (3)

ISNS Membership Meeting 7:30 am

Regi

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Regi

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Regi

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Regi

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8:00 am Break Break Break Break

8:30 am Welcome Session 5 –

Quality Improvement Activities Session 9 –

International Perspectives Session 13 –

Molecular Tech & Utility9:00 am Session 1 –

Current RUSP Conditions9:30 am

10:00 am

Exhi

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Poster Speed Dating

Exhi

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Break Break

10:30 am Break Break

Session 10 – Follow-up Session 14 – Conditions under Consideration11:00 am

Session 2 – HIT Session 6 – Joint QA/QC - Follow-up11:30 am

12:00 pmDessert in Exhibit Hall –

Visit exh/posters

Nat’l Case-level Reporting on NBS

12:30 pm

Lunch (on your own) Box lunch in Exhibit Hall – visit exh/posters

1:00 pm Adjournment

1:30 pmSession 11 –

Parent/Patient Panel Newborn Screening Lab Tour

2:00 pm

Session 3 – Keynote Session

Awards Ceremony

2:30 pm

Session 7 – FLEPSI3:00 pmBreak – Raffl e

3:30 pm

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4:00 pm Break Break Session 12 – Spinal Muscular Atrophy

4:30 pm Session 4 –

Training/Ed/Communtion Session 8 –

We All Screen for Two Screens!5:00 pm

5:30 pm

6:00 pm

Welcome Reception

Break

Off-site Social 6:00 – 10:00 pm

6:30 pm Meet the Manufacturers

7:00 pm

7:30 pm

Short-term Follow-up Mixer CDC Discussion on collective data

analytics efforts8:00 pm

8:30 pm

9:00 pm

Dear Friends, Colleagues and Attendees,

On behalf of the Association of Public Health Laboratories (APHL), Illinois Department of Public Health Division of Laboratories, the International Society for Neonatal Screening and the Symposium Planning Committee, it is our great pleasure to welcome you to the 2019 APHL Newborn Screening and Genetic Testing Symposium (NBSGTS).

Welcome to the wonderful State of Illinois and to the great City of Chicago! Chicago is nicknamed the “City of the Broad Shoulders” which refers to the hard-working people who live in the city. This year’s theme for the symposium is “Strong Foundations Lead to New Heights.” As the newborn screening community addresses how best to incorporate new screening methods, disorders and address ethical issues, this is a chance for us to step back from all of our daily hard work and study the current realm of newborn screening as revealed by the many experienced speakers and presenters from around the world.

The first day of the meeting will feature a Keynote panel discussion on “Beyond the Brochure: Building the Communication Bridge.” Each conference day will feature cutting edge presentations within several categories of plenary sessions. Morning Roundtable Sessions, Corporate Partner Presentations and an Evening Forum will provide opportunities for you to participate and focus more closely on specific issues or areas of expertise in smaller groups. Monday features an Awards Ceremony to recognize champions of Newborn Screening in four areas and Tuesday features the always cherished Parent/Patient Panel session. Wednesday concludes by keeping us abreast of the continual advances in Molecular testing and an opportunity to tour the Illinois Department of Public Health State Newborn Screening Laboratory.

While you are here at NBSGTS 2019 in Chicago, we hope you experience and learn useful new things that you can take back and share with your colleagues at home, and that you will meet many new friends from across the country and around the globe who will become part of a long lasting network of support throughout your career in newborn screening. We hope that you’ll also take some time to relax from all the hard work and enjoy the city’s many wonderful restaurants and enjoy the beautiful environment and architecture.

We would like to thank the members of the 2019 APHL Newborn Screening and Genetic Testing Symposium Planning Committee for contributing their time on conference calls and reviewing abstracts, and we are especially thankful for the work that each and every one of our colleagues contributes every day and the passion that you share in being part of Newborn Screening.

Sincerely,

E. Matt CharlesChief, Division of Laboratories,Illinois Department of Public Healthand Chair, 2019 APHL NBSGTS Planning Committee

4 | 2019 APHL Newborn Screening and Genetic Testing Symposium | FINAL PROGRAM

The Association of Public Health LaboratoriesVISION: A healthier world through quality laboratory systems.

MISSION: Shape national and global health outcomes by promoting the value and contributions of public health laboratories and continuously improving the public health laboratory system and practice.

The Association of Public Health Laboratories (APHL) is a non-profit 501(c)(3) organization representing governmental laboratories that monitor and detect public health threats, including emerging infectious disease surveillance, detection of metabolic and genetic conditions in newborns, water contamination identification and foodborne outbreak detection. APHL members are state, local, county and city public health laboratories, state and local environmental health laboratories, state agricultural laboratories, corporations, individual and student members with an interest in public health laboratory issues, and organizations that share common goals with APHL.

APHL is a national leader in: • Scientific Expertise • Education and Training• Health Policy

• Informatics• Quality Assurance• Workforce Development

• Laboratory Systems• Global Laboratory Capacity

APHL Board of DirectorsJoanne Bartkus, PhD, D(ABMM), Minnesota, President

Grace Kubin, PhD, Texas, President Elect

Ewa King, PhD, Rhode Island, Past President

Bill Whitmar, MS, Missouri, Secretary-Treasurer

Richard Steece, PhD, D(ABMM), Tennessee, Member-at Large

Denise Toney, PhD, HCLD(ABB), Virginia, Member-at-Large

Scott Zimmerman, DrPH, HCLD(ABB), North Carolina, Member-at-Large

Maria Lucia Ishida, PhD, New York, Public Health Associate Institutional Member

Tamara Theisen, MT(ASCP), Saginaw County, Michigan, Local Institutional Member

Mark Wade, San Antonio, Texas, Local Institutional Member

Scott Becker, MS, Executive Director (ex-officio)

2019 Newborn Screening and Genetic Testing Symposium Planning CommitteeChair – E. Matt Charles, Illinois Department of Public Health

Michele Caggana, ScD, FACMG, New York State Department of Health

Carla Cuthbert, PhD, FCCMG, FACMG, Centers for Disease Control and Prevention

George Dizikes, PhD, HCLD(ABB), Tennessee Department of Health: Laboratory Services

Amy Gaviglio, MS, LCGC, Minnesota Department of Health

Nancy Giurato, PhD, Illinois Department of Public Health

Shannon Harrison, RN, BSN, LCCE, Illinois Department of Public Health

R. Rodney Howell, MD, FAAP, FACMG, University of Miami

Patricia Hunt, Texas Department of State Health Services

Rachel Lee, PhD, Texas Department of State Health Services

Jennifer Macdonald, RN, BSN, MPH, Virginia Department of Health

Joseph Orsini, PhD, New York State Department of Health

Konstantinos Petritis, PhD, Centers for Disease Control and Prevention

Ashleigh Ragsdale, MPH, Washington State Department of Health

Debi Sarkar, MPH, Health Resources and Services Administration

Jackie Seisman, MPH, Genetic Alliance

Dana Smith, BSN, RN, South Carolina Department of Health & Environmental Control

Susan Tanksley, PhD, Texas Department of State Health Services

Santosh Shaunak, Washington State Department of Health

Beth Vogel, MS, CGC, New York State Department of Health


About This Symposium• The 2019 APHL Newborn Screening & Genetic Testing Symposium (NBSGTS) will

address state, national and international newborn screening, genetic testing and policy issues important to public health newborn screening systems. Topics include molecular technologies, current and upcoming conditions, quality improvement, communicating with families and the public, international newborn screening activities and short and long-term follow-up.

• The program includes poster and platform presentations drawn from the submitted abstracts, invited oral presentations, exhibits and a Meet the Manufacturers session. Input and participation by parents and advocacy organizations is encouraged.

• The major learning goals of this symposium are:

• Discuss and evaluate quality assurance and quality control measures for newborn screening laboratories

• Describe state and international experiences with candidate conditions and clinical outcomes in newborn screening

Who will Benefit from Attending this Symposium?Newborn screening and genetics laboratory professionals, newborn screening and genetics program personnel and counselors, students, health care practitioners or other maternal and child health service providers, public health nurses, specialists, public health laboratory directors, and other public health professionals involved in newborn screening & genetic testing issues and follow-up.

General InformationThe 2019 APHL NBSGTS begins with three roundtables at 7:00 am on Sunday, April 7 followed by the Welcome Session at 8:30 am. It concludes at 1:00 pm on Wednesday, April 10.

Posters will be displayed from Sunday afternoon, April 7 through 4:00 pm on Tuesday, April 9. Dedicated viewing times (with authors present) will be during Sunday’s Welcome Reception from 6:30 pm – 7:00 pm and during Tuesday’s lunch from 12:30 pm – 1:00 pm.

The Exhibit Hall will be open Sunday, April 7 from 4:00 pm – 7:30 pm; Monday, April 8 from 10:00 am – 4:30 pm; and Tuesday, April 9 from 10:00 am – 4:00 pm.

All general sessions will take place in the Continental Ballroom. The exhibit hall, posters, breaks and lunch will take place one flight up in the International Ballroom.

Location/HotelThe 2019 APHL NBSGTS is being held at the Hilton Chicago, 720 South Michigan Ave., Chicago, IL 60605. The hotel is located in downtown Chicago close to Lake Michigan and the Chicago River. It is just steps away from numerous restaurants, shops and entertainment.


RegistrationThe registration fee is $550. You may only register onsite at this time.

APHL’s Federal ID number is 52-1800436. Registrations cancelled 30 days prior to the symposium will be refunded less a $100 administrative fee. Registrations cancelled less than 30 days prior to the symposium will not be refunded.

Optional Tour of the Illinois State Newborn Screening LaboratoryAn optional tour of the Illinois State Newborn Screening Laboratory has been arranged for Wednesday afternoon, April 10. This tour is currently full. Please meet near the symposium registration desk by 1:15 pm. The bus will leave promptly at 1:30 pm and will return no later than 4:00 pm. Last minute substitutions may occur if those with reservations do not show.

Consent to Use Photographic ImagesRegistration and attendance at or participation in APHL meetings and other activities constitutes an agreement by the registrant to APHL’s use and distribution (both now and in the future) of the registrant’s or attendee’s image or voice, without compensation, in photographs, videotapes, electronic reproductions and audiotapes of such events and activities.

P.A.C.E. Continuing Education CreditsAPHL is an approved provider of continuing education programs in the clinical laboratory sciences through the American Society of Clinical Laboratory Science (ASCLS) P.A.C.E. program. Attendees may earn up to 21 P.A.C.E. credits by attending the entire symposium. Florida and genetic counselor CEUs will also be offered.

Certified Public Health Recertification CreditsAPHL is an approved provider of Certified in Public Health (CPH) recertification credits through the National Board of Public Health Examiners (NBPHE). Attendees have the opportunity to earn up to 20 hours of credit by attending the entire symposium. APHL will not issue certificates of CPH credits earned. The attendee is responsible for keeping track of the hours earned.


Continuing Medical Education/Continuing Nursing Education CreditsCME and CNE accreditation is in progress.

Symposium Mobile AppAccess all the detailed information about sessions, exhibitors and poster abstracts at your fingertips before the meeting and onsite. Plan your experience with the My Show feature. Receive alerts and reminders onsite.

The app includes these useful features:

• Interactive floor plans of the hotel and exhibit for easy navigation

• My Show, where one can personalize their experience by tagging sessions, exhibitors, city destinations and create notes

• Alerts, reminders or changes about the symposium

• APHL Blog daily symposium summary and other social media

• Speaker and sponsor profiles

The 2019 NBSGTS app will be available on the iPhone and Android platforms. Look for it in the middle of March in the Apple and Google Play stores!

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SATURDAY, APRIL 63:00 pm – 7:00 pmRegistration8th Street Registration

SUNDAY, APRIL 76:30 am – 6:30 pmRegistration8th Street Registration

6:30 am – 7:30 amCoffeeWilliford Foyer

7:00 am – 8:00 am

Roundtables Public Health Newborn Screening Long Term Follow-Up Opportunities and ChallengesWilliford AThis session will discuss challenges to conducting long term follow-up in newborn screening programs as well as potential solutions in a roundtable discussion format.

• Kristi Bentler, MS, RN, PHN, Minnesota Department of Health

Successes and Challenges of Using Post-Analytical Tools by Newborn Screening LabsWilliford BIn this roundtable, representatives from Georgia, New York, and Tennessee will give overviews of their efforts to incorporate the use of post analytical tools, and discuss their successes and challenges encountered with doing so. There will then be ample opportunity for questions and answers, and time for discussion among attendees on how best (or whether) to implement these tools.

• Arthur Hagar, PhD, Georgia Department of Public Health

Program Highlights


Sunday, April 7

Innovation as a Tool for Newborn Screening SolutionsWilliford CFollowing a brief training on innovation techniques, participants will work in facilitated small groups to identify approaches for innovative solutions in newborn screening. Participants will leave with approaches to spur innovation in their state public health systems.

• Marci Sontag, PhD, MS, CI International

7:30 am – 9:00 amCoffee BreakContinental Foyer

8:30 am – 9:00 am

Welcome SessionContinental BallroomModerator: E. Matt Charles, Illinois Department of Public Health• Joanne Bartkus, PhD, D(ABMM), Minnesota Department of Health

• Jelili Ojodu, MPH, Association of Public Health Laboratories

Day One588-834-19, 6.5 contact hours (P.A.C.E.)At the conclusion of today, the participant will be able to:• Describe the landscape of US newborn screening programs in 2018 as well as share

resources developed by NBS programs• Discuss lessons learned and best practices that resulted from the New Disorders

Implementation Project• Identify areas of need among state NBS laboratories to successfully implement

electronic messaging and potential solutions to meet those needs• Identify methods used to evaluate the cost efficiency of electronic data reporting for

newborn screening programs• Discuss methods for standardizing communication in newborn screening systems• Compare methods of the newborn metabolic screening in New Zealand between

midwives and other maternity practitioners


Sunday, April 7

9:00 am – 10:30 am

Current Recommended Uniform Screening Panel (RUSP) ConditionsContinental BallroomThis session will feature presentations that provide an overview of NBS systems across the US, and discuss new findings from newborn screening of various conditions currently on the RUSP.

Moderators: George Dizikes, PhD, HCLD(ABB), Tennessee Department of Health Carla Cuthbert, PhD, Centers for Disease Control and Prevention

The State of Newborn Screening Systems in the United States• Careema Yusuf, MPH, Association of Public Health Laboratories

Duarte Galactosemia: Shedding New Light on an Old Problem• Angela Wittenauer, RN, BSN, Emory University

New Disorders Screening Implementation for Mucopolysaccharidosis type I, Pompe, and X-Linked Adrenoleukodystrophy: Best Practices, Models, and Lessons Learned from the New Disorders Implementation Project• Kshea Hale, MPH, Association of Public Health Laboratories

Demographic Variability of Newborn α-L-iduronidase (IDUA) and Acid α-glucosidase (GAA) Enzyme Activities in Michigan• Michael Sarzynski, Michigan Department of Health and Human Services

10:30 am – 11:00 amBreakContinental Foyer


Sunday, April 7

11:00 am – 12:30 pm

Health Information TechnologyContinental BallroomThis session will start with a presentation providing an overview of recent activities of the HIT workgroup, and will be followed by presentations from states discussing their experiences with implementing new electronic reporting initiatives as well as a summary of findings from a needs assessment using the Newborn Screening HIT “Building Blocks” Guide.

Moderators: Ashleigh Ragsdale, MPH, Washington State Department of Health Brendan Reilly, Texas Department of State Health Services

APHL Health Information Technology (HIT) Activities: An Overview• Sari Edelman, MPH, Association of Public Health Laboratories

Informatics Needs Assessment based on the Newborn Screening Health Information Technology Resource Guide and Toolkit• Mary Kate Yost-Daljev, PhD, J Michael Consulting

The Effect of Electronic Reporting and Birth Registry Matching on Pulse Oximetry Screening in Newborns: A One-Year Report from Minnesota• Amy Gaviglio, MS, CGC, Minnesota Department of Health

Evaluating Return on Investment of Statewide Implementation of Electronic Demographic Data Reporting• Anthony Steyermark, PhD, Minnesota Department of Health

Towards a Newborn Screening Common Data Model• David Jones, PhD,Utah Department of Health

12:30 pm – 2:00 pmLunch (on your own)


Sunday, April 7

2:00 pm – 4:00 pm

Keynote Session Beyond the Brochure: Building the Communication BridgeContinental BallroomThis session will feature presentations from speakers who have worked to communicate highly technical information to non-scientific audiences; the speakers will also reflect on their experiences with addressing misinformation or negative publicity, and how to engage hard-to-reach populations in newborn screening.

Moderators: E. Matt Charles, Illinois Department of Public Health Eric Blank, DrPH, Association of Public Health Laboratories

• D. Holmes Morton, MD, Central Pennsylvania Clinic

• Glen Nowak, PhD, Center for Health & Risk Communication, University of Georgia

4:00 pm – 4:30 pmBreak in the Exhibit HallInternational Ballroom

4:00 pm – 7:30 pmExhibit Hall Open International BallroomPosters Available for Viewing (Posters P-001 - P-080 are on the left side of the hall and P-081 - P-163 are on the right.)

4:30 pm – 6:00 pm

Training/Education/CommunicationContinental BallroomThe presentations in this session will cover communication and education materials and methods with parents and providers regarding NBS conditions and/or screening results.

Moderators: Jennifer Macdonald, RN, BSN, MPH, Virginia Department of Health Dana Smith, RN, South Carolina Department of Health & Environmental Control

Standardization in Newborn Screening Communication• Adrianna Evans, MPH, Genetic Alliance


Sunday, April 7

Revamping Provider Educational Materials for Newborn Screening Referrals• John Thompson, PhD, MPH, MPA, Washington State Department of Health

Assessing Patient Comprehension and Preferred Formatting of Newborn Screening Result Reports• Katherine Schroepfer, University of Minnesota

Using Animated Video for Newborn Screening Parent Education• Sylvia Mann, MS, CGC, Western States Regional Genetics Network

The New Zealand Midwifery Model: An Exploration of the Education Required to Impact Sample Quality and Timeliness for Newborn Metabolic Screening in New Zealand• Joan Carll, RN, RM, LabPLUS Newborn Metabolic Screening, New Zealand

6:00 pm – 7:30 pm

Welcome Reception in the Exhibit HallInternational BallroomBeverages sponsored by Integrated Software Solutions

6:30 pm – 7:00 pmPoster authors P-001 - P-082 available to discuss their postersInternational Ballroom

7:30 pm – 9:00 pmShort-term Follow-up MixerWilliford A


Monday, April 8

Innovate!Monday, April 8, 7:00 am – 8:00 am

Baebies, Inc. • Williford ABeyond SEEKER: Baebies’ Second Tier Sequencing & Assay ExpansionYou’ve heard about SEEKER, our FDA-cleared newborn screening platform for Pompe & MPS I (currently in 6 state labs). But Baebies’ vision doesn’t end there! In addition to SEEKER, Baebies is continuously innovating to deliver products and services to advance newborn screening.

Hear from genetics expert Dr. Richard Parad on how Baebies’ second tier genetic sequencing compares to second tier biochemical testing. Learn how our assay pipeline expansion supports future RUSP conditions. And get introduced to the Baebies team of over 90 staff members based at our headquarters in Durham, NC — driven by our mission to save lives and make lives better for millions of children worldwide.

Speakers: Richard B. Parad, MD, MPH, Neonatologist, Brigham and Women’s Hospital & Associate Professor of Pediatrics, Harvard Medical School

Andy Bhattacharjee, PhD, VP of Laboratory Services, Baebies Candice Brannen, PhD, Senior Director of Lab Products, Baebies

OZ Systems & STACS DNA • Williford BWhat you don’t know…who will it hurt?Overly complex hospital workflows, unreliable couriers and a lack of data are common pre-analytical challenges faced by state newborn screening programs. This session will discuss your challenges and how an integrated, end-to-end statewide system designed specifically for NBS can help mitigate risks and improve patient safety and intervention timeliness. Learn how you can save time, effort, money, and, most importantly, babies’ futures.

Speakers: Terese Finitzo, CEO, OZ Systems Heather MacIntosh, VP Marketing, STACS DNA

PerkinElmer • Williford CWorkflow Improvements in Newborn Screening Laboratories PerkinElmer will lead a discussion regarding current workflows for routine experimentation in newborn screening laboratories. Audience participation is requested as we explore future workflow improvements in primary and secondary screening that include automation and advances in sample management.

Moderator: Aaron Risinger, MBA, Sr. Mass Spectrometry Sales Specialist, PerkinElmer Diagnostics


MONDAY, APRIL 86:30 am – 6:00 pm

Registration8th Street Registration

6:30 am – 7:30 amCoffee and Light Continental BreakfastWilliford Foyer

7:00 am – 8:00 am

Innovate!Baebies, Inc.Williford A

OZ Systems Williford B

PerkinElmerWilliford C

Day Two588-835-19, 6.0 contact hours (P.A.C.E.)At the conclusion of today, the participant will be able to:• Describe how demographic data quality can be assessed using correlations

with analytes • Analyze different methods for establishing cut off values for methionine and how

new methods could lower the occurrence of false-positives • Identify ways to establish cutoffs for CAH based on different neonatal and

environmental factors and categories• Discuss findings from a study that evaluated how health care professionals

initially communicate out-of-range results to parents • Review examples of the financial systems newborn screening programs are

currently implementing in order to run daily operations • Identify the role ELSI can play when adding new conditions to state newborn

screening panels• Evaluate the effectiveness and utility of two screens to identify newborns with

amino acid, fatty acid oxidation, and organic acid disorders using MS/MS• Describe Washington’s experiences with implementing X-ALD, as a two-screen state


Monday, April 8

7:30 am – 9:00 amCoffeeContinental Foyer

8:30 am – 10:00 am

Quality Improvement and Assurance Activities Continental BallroomThe presentations in this session will highlight activities targeted to quality improvement and quality assurance of newborn screening processes. Strategies for decreasing methionine false-positives will be presented as well as strategies for management and review of cutoffs for thyroid stimulating hormone (TSH) and immunoreactive trypsinogen (IRT).

Moderators: Joseph Orsini, PhD, New York State Department of Health Mary Seeterlin, PhD, Michigan Department of Health and Human Services

Assessing Newborn Screening Demographic Data Quality Using Correlations with Analytes• Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa

Strategies for Quality Improvement, Quality Control and Cut-off Management: TSH and IRT• Kim Hart, MS, LCGC, Utah Department of Health

Establishing Appropriate Cut-offs for Methionine Levels in Premature Newborns by Gestational Age and Nutritional Status• Samantha Marcellus, MPH, The University of Iowa Stead Family Children’s Hospital

Validating the QSight Tandem Mass Spectrometry System for GAA (acid α-glucosidase) and IDUA (α-iduronidase) Enzyme Screening in Dried Blood Spots with a 3 Hour Incubation Time• Amy Hietala, MS, Minnesota Department of Health

10:00 am – 10:30 amPoster Speed Dating SessionContinental BallroomThis session will include short presentations of select posters. The full posters may be seen in the exhibit hall. See the list of presenters in the following pages.

Moderator: Jelili Ojodu, MPH, Association of Public Health Laboratories


Monday, April 8

Poster Speeding Dating Presentations

Monday, April 8 – 10:00 am

P-006 Quality Improvement Efforts in Arkansas - A Five Year UpdatePresenter: Pat Purifoy, Arkansas Department of Health

P-010 NewbornScreeningforG6PDDeficiencyandtheMutationalSpectruminVietnamPresenter: Luyen Quoc Hai, Bionet Vietnam Biotechnology

P-017 Short-TermFollow-UpforNewbornswithanABCD1VariantofUncertainSignificancePresenter: Hao Tang, California Department of Public Health

P-020 Critical Congenital Heart Disease Screening in the United StatesPresenter: Marci Sontag, CI International

P-030 Harmonizing Domestic and International Newborn Screening Labs MS/MS Analyte Results and Cutoffs Using the CDC NSQAP Reference MaterialsPresenter: Austin Pickens, Centers for Disease Control and Prevention

P-043 Comparison of Electrospray and Impactor (Unispray) Ionization Tandem Mass Spectrometry for the Analysis of Newborn Screening BiomarkersPresenter: Gyliann Pena, Centers for Disease Control and Prevention

P-045 Does Increasing Birth Weight Interfere with Acylcarnitine and Amino Acid Results on the Newborn Screen?Presenter: Erica Wright, Children’s Hospital Colorado/University of Colorado

P-046 A Missed Case of Classic Galactosemia: A Consequence of Too Many False Positives? Presenter: Sarah Viall, Children’s National Medical Center

P-053 From Idea to Impact: A Case Study on Making Change Through EducationPresenter: Jaclyn Seisman, Genetic Alliance

P-055 Newborn Screening Lab Reports: From Read Out to Communications OpportunityPresenter: Adrianna Evans, Genetic Alliance

P-062 Use of a Deliberative Community Engagement Model to Obtain Public Recommendations about Adding New Conditions to Iowa’s Newborn Screening PanelPresenter: Kimberly Noble Piper, Iowa Department of Public Health

P-069 Age at Enrollment in Children’s Special Health Care Services (CSHCS) among Children Diagnosed with a Disorder on the Michigan Newborn Screening (NBS) Blood Spot PanelPresenter: Mary Kleyn, Michigan Department of Health and Human Services

P-074 Long Term Follow-up with Families that Have a Child with Critical Congenital Heart Disease (CCHD): Findings from Local Public Health (LPH) Nursing AssessmentsPresenter: Heather Pint, Minnesota Department of Health

P-076 ImprovementsinPre-andPost-AnalyticalEfficiencies-WhatDoesOperationsMeanforNewborn Screening?Presenter: Jill Simonetti, Minnesota Department of Health

P-078 IncorporatingRace/Ethnic-specificPhysiologicalVariationintoNewbornScreeningAlgorithms: The Case of Total GalactosePresenter: Amy Gaviglio, Minnesota Department of Health


Monday, April 8

P-084 The BabySeq Project: Genomic Findings and Preliminary Survey and Economic ResultsPresenter: Richard Parad, Brigham & Womens’ Hospital

P-092 Hitting the “Ct”-Spot: A Three-Year Retrospective Analysis of SCID Screening using Ct Values in New JerseyPresenter: Miriam Schachter, New Jersey Department of Health

P-095 Use of LEAN Principles to Address Data Entry Delays and Their Impact on Achieving Timely Reporting of ResultsPresenter: Beth Vogel, New York State Department of Health

P-102 Collection of Dried Blood Spot Samples on Recently Printed Filter Paper Cards Inhibits Biotinidase ActivityPresenter: Matthew Henderson, Children’s Hospital of Eastern Ontario

P-109 Potential Use of Unmanned Aerial Systems to Transport Newborn Screening SpecimensPresenter: Scott Shone, RTI International

P-112 The North Carolina X-linked Adrenoleukodystrophy Pilot Study: Challenges and Lessons LearnedPresenter: Jennifer Taylor, RTI International

P-116 PeerNetworkResourceCenterandProficiencySampleExchangeHighlight Programmatic Differences Presenter: M. Christine Dorley, Tennessee Department of Health

P-118 Faster,Better,ANDCheaperSevereCombinedImmunodeficiencyScreeningofNewbornSpecimens in TexasPresenter: Maria Nolen, Texas Department of State Health Services

P-119 11 Year look at CAH Screening in TexasPresenter: Karen Hess, Texas Department of State Health Services

P-121 Decreased Concentration of Isovaleryl-Carnitine in Patients with Maple Syrup Urine Disease (MSUD)Presenter: Ralph Fingerhut, University Children’s Hospital, Switzerland

P-127 Timeliness and the Victorian Newborn Screening Program: A 7 Year ReviewPresenter: Sally Morrissy, Victorian Clinical Genetics Service, Australia

P-129 From Brochure to Booklet: Redesigning the Parent Guide to Newborn Screening in Washington StatePresenter: Gauri Gupta, Washington State Department of Health

P-131 Validation of a Multiplexed Real-time PCR Assay to Detect SCID and SMN1 Homozygous Exon 7 Deletion and Droplet Digital PCR Assay to Assess SMN2 Copy Numbers in Newborn Screening for Spinal Muscular Atrophy Presenter: Mei Baker, Wisconsin State Laboratory of Hygiene

P-136 Wisconsin’s Approach to Addressing Timely Specimen Re-collection after Unsatisfactory Specimen Submission Presenter: Patrice Held, Wisconsin State Laboratory of Hygiene

P-137 Combining Newborn Metabolic and DNA Analysis for Second-tier Testing of Methylmalonic AcidemiaPresenter: Curt Scharfe, Yale School of Medicine

For more details, be sure to view these posters in the exhibit hall through 4:00 pm Tuesday, April 9.


Monday, April 8

10:00 am – 5:00 pmExhibit Hall Open International BallroomPosters Available for Viewing (Posters P-001 - P-080 are on the left side of the hall and P-081 - P-163 are on the right.)

10:30 am – 11:00 amBreak in the Exhibit HallInternational BallroomSponsored by Astoria-Pacific, Inc.

11:00 am – 12:30 pm

Joint Session on QA/QC and Follow-upContinental BallroomThis session will cover presentations relating to both follow-up and quality assurance/quality control issues, with a focus on cutoff establishment for CAH, hemoglobin variant reporting, communication of out-of-range results with families and the recovery and experience of the Puerto Rico NBS program after Hurricane Maria.

Moderators: Beth Vogel, MS, CGC, New York State Department of Health Adrienne Manning, Connecticut Department of Public Health

Baby Power: Improving Congenital Adrenal Hyperplasia Screening Performance with Neonatal Characteristics• Hao Tang, PhD, California Department of Public Health

Hemoglobin Variant Reporting in Newborn Screening• Kim Hart, MS, LCGC, Utah Department of Health

Investigation of First Contact with Families Regarding Out-of-Range Newborn Screening Results• Allison Wood, Genetic Alliance

The Impossible is Possible: Transforming Alaska’s NBS Program• Sabra Anckner, RN, BSN, Alaska Division of Public Health

Hurricane María: Experience of the Puerto Rico Newborn Screening Program• Sulay Rivera, PhD, Puerto Rico Newborn Screening Program


Monday, April 8

12:30 pm – 2:00 pmBox Lunch (in the Exhibit Hall) International BallroomVisit the exhibitors and posters

1:00 pm – 1:30 pmPoster authors P-083 – P-163 available to discuss their postersInternational Ballroom

2:00 pm – 2:30 pm

Awards CeremonyContinental BallroomModerator: Scott Becker, MS, Association of Public Health Laboratories

2:30 pm – 4:00 pm

Financial, Legal, Ethical, Policy & Social Implications (FLEPSI)Continental BallroomThis session will provide perspectives from state programs on issues surrounding consent, storage and use of residual dried blood spots for newborn screening as well as an overview of various financial models in use by NBS programs.

Moderators: Susan Tanksley, PhD, Texas Department of State Health Services John Thompson, PhD, MPH, MPA, Washington State Department of Health

Understanding Newborn Screening Financial Models• Nisha Quasba, MPH, Association of Public Health Laboratories

Difficult Choices, Rewarding Outcomes: Delaware’s Newborn Screening Program• Michael Cellucci, MD, Nemours AI DuPont Hospital for Children

Including ELSI Research Questions in Newborn Screening Pilot Studies• Aaron Goldenberg, PhD, Case Western Reserve University

Comparison of Video, App and Standard Consent Processes on Parental Decision Making for Residual Dried Blood Spot Research: A Randomized Controlled Trial• Erin Rothwell, PhD, CTRS, University of Utah


Monday, April 8

4:00 pm – 4:30 pmBreak in the Exhibit HallInternational Ballroom

4:30 pm – 6:00 pm

We All Screen for Two Screens! Continental BallroomThis session will feature presentations from two-screen states (Texas, Washington, and Maryland) and discuss their experiences and findings related to screening of certain conditions under a two-screen model.

Moderators: Rachel Lee, PhD, Texas Department of State Health Services Darren Michael, PhD, Colorado Department of Public Health and Environment

The Lonely Newborn Screen: A Study of Linking Algorithms and Why Two Screen State Laboratories Do Not Receive Two Appropriately Timed Screens for All Newborns• Brendan Reilly, Texas Department of State Health Services

Are Two Screens Necessary for Amino Acid, Fatty Acid Oxidation and Organic Acid Conditions?• Patricia Hunt, Texas Department of State Health Services

The Benefits of a Second Newborn Screen to Detect SCID and Other T-cell Lymphopenias: A Four-Year Review in Washington State• Caroline Nucup-Villaruz, MD, Washington State Department of Health

Challenges and Lessons Learned from One Year of X-ALD Newborn Screening in a Two-Screen State• John Thompson, PhD, MPH, MPA, Washington State Department of Health

Lysosomal Enzyme Activity Comparison between Initial and Second Newborn Specimens in Maryland• Fizza Gulamali-Majid, PhD, Maryland Department of Health


Monday, April 8

6:30 pm – 7:45pm

Meet the Manufacturers SessionWilliford A-CLight hearted presentations from vendors along with snacks and beverages (not a meal)

6:30 pm Baebies, Inc.

6:45 pm OZ Systems

7:00 pm Astoria-Pacific, Inc.

7:15 pm Cambridge Isotope Laboratories

7:30 pm PerkinElmer

7:45 pm – 9:00 pmCDC Dialogue and Update on Our Collective Data Analytics EffortsBuckingham


TUESDAY, APRIL 96:30 am – 5:15pm


6:30 am – 7:30 amCoffeeWilliford Foyer

7:00 am – 8:00 am

RoundtablesStatus of Beta Thalassemia Reporting for Newborn Screening in the United StatesWilliford AThis session will discuss findings from a recent survey of NBS programs on beta thalassemia and other hemoglobin variant reporting; there will be dialogue and open discussion of ideas for education materials regarding how to better screen and report beta thalassemia in the newborn period.

• Tim Davis, Washington State Department of Health

Taking Steps to Improve Newborn Screening Staff MoraleWilliford BThis session will feature a review and results from the NY NBS program’s staff morale improvement campaign; an open dialogue will follow to discuss ideas from other states about strategies to improve morale.

• Sarah Bradley, MS, CGC, New York State Department of Health

Built to Last: Supporting a Long-Term Infrastructure for Newborn Screening EducationWilliford CThis session will discuss ways that newborn screening programs can promote skill building in education throughout the newborn screening system, as well as how sharing information and/or use of consultants can help alleviate financial burden.

• Adrianna Evans, MPH, Genetic Alliance


Tuesday, April 9

8:30 am – 10:00 am

International PerspectivesContinental BallroomThis session will showcase international newborn screening efforts underway in Germany, Canada (British Columbia and the Maritimes), the Netherlands, and the MENA region.

Moderators: R. Rodney Howell, MD, University of Miami School of Medicine Joanne Mei, PhD, Centers for Disease Control and Prevention

High-Throughput Identification of Hemoglobinopathies & Thalassemias by HRAM/MS• Zoltan Lukacs, PhD, Hamburg University Medical Center, Germany

Performance of a Three-tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia• Graham Sinclair, PhD, British Columbia Newborn Screening Program, Canada

Incorporation of CLIR Post Analytical Interpretative Tools in the Evaluation of the Dutch Newborn Screening Results• Rose Maase, National Institute for Public Health and the Environment, The Netherlands

Day Three588-836-19, 5.5 contact hours (P.A.C.E.)At the conclusion of today, the participant will be able to:• Describe the British Columbia newborn screening program’s experiences with

implementing IRT-DNA-IRT for cystic fibrosis• Discuss the benefits of performing allogenic HSCT early in life for certain diseases

identified during NBS in the MENA region• List the impacts on the follow-up and clinical system after the addition of XALD to

Minnesota’s state NBS panel• Discuss the collaborative efforts implemented by Nebraska’s NBS team to

address barriers that lead to loss to follow-up, and results of those efforts• Describe how communication with parents about their NBS experiences can help

identify potential areas of improvement• Assess the ways in which access and availability of care, resources and support

impacts families during the NBS and diagnosis processes in Minnesota• Discuss Minnesota’s implementation and first year of experience screening for

spinal muscular atrophy (SMA).• Compare the results of second-tier and third-tier tests using DNA sequencing for

SMA screening


Tuesday, April 9

Hematopoietic Stem Cell Transplantation and Newborn Screening in Developing Countries: MENA Update• Issam Khneisser, MS, MBA, Saint Joseph University, Lebanon

A Novel Collaborative Newborn Screening Approach: Screening Program Located in a Tertiary Pediatric Hospital Clinical Laboratory• Rachel Mador-House, MS, CGC, Maritime Newborn Screening Centre, Canada

10:00 am – 10:30 amBreak in the Exhibit HallInternational Ballroom

10:00 am – 4:00 pmExhibit Hall OpenInternational BallroomPosters available for viewing (Posters P-001 - P-080 are on the left side of the hall and P-081 - P-163 are on the right.)

10:30 am – 12:00 pm

Communicating with Families and the Public Continental BallroomMany state programs encounter issues surrounding educating parents on newborn screening as well as effectively engaging the public in understanding the goals of newborn screening. This session will provide perspectives on how to improve communication with families and the public. Innovative methods and strategies to reducing loss-to-follow-up will also be highlighted.

Moderators: Carol Johnson, University of Iowa Hospitals & Clinics Mary Kleyn, MS, Michigan Department of Health and Human Services

The X (ALD) Factor: Follow-Up and Clinical Perspectives After One Year of Screening in Minnesota• Amy Gaviglio, MS, CGC, Minnesota Department of Health

Public Health Newborn Screening Follow-up for X-linked Adrenoleukodystrophy, Mucopolysaccharidosis Type I, and Pompe Disease: Lessons Learned from a Multipronged Stakeholder Needs Assessment• Elise Holmes, MPP, Minnesota Department of Health


Tuesday, April 9

Estimates of Treatment Discontinuation During First 3 Years Among Privately Insured US Children Born During 2010-2014 and Diagnosed with Congenital Hypothyroidism• Stuart Shapira, MD, PhD, Centers for Disease Control and Prevention

Trying Times Call for Trying New Approaches! Expanding Follow-up System Capacity with Existing Resources through New Partnerships and Collaborations to Reduce Loss-to-Follow-up• Julie Luedtke, Nebraska Department of Health and Human Services

Making Texas Smaller – Finding the Hard-to Find• Karen Hess, Texas Department of State Health Services

12:00 pm – 1:30 pmLunch (on your own)

12:45 pm – 1:30 pmDessert (in the Exhibit Hall)International BallroomVisit the exhibitors and posters

1:30 pm – 3:00 pm

Parent/Patient PanelContinental BallroomThis session will feature families affected by genetic disorders. They will present their stories as they choose and will not have a script. The disorders represented come from the Recommended Uniform Screening Panel (RUSP), secondary targets, and disorders under investigation. The session will also feature presentations discussing family/parent experiences from MI and MN after receiving a diagnosis.

Moderators: Shannon Harrison, RN, BSN, LCCE, Illinois Department of Public Health Lewis Hsu, MD, PhD, University of Illinois at Chicago

Assessing the Experience of Parents of Newborns Diagnosed with a Condition through Michigan’s Newborn Screening Program• Kristy Karasinski, MPH, Michigan Department of Health and Human Services


Tuesday, April 9

Family Experiences After Diagnosis: An Assessment of Access and Availability of Care, Resources and Support• Elise Holmes, MPP, Minnesota Department of Health

• Parent Panel• Pam Kowalczyk (adult with PKU and parent of child with PKU)• Jill Schindler (parent of child with MPS I - Hurler)• TaLana Hughes (parent of child with Sickle Cell disease)

Executive Director, Sickle Cell Disease Association of Illinois

3:00 pm – 4:00 pmBreakintheExhibitHallwithraffledrawingat3:30pmInternational Ballroom

4:00 pm – 5:00 pm

Spinal Muscular AtrophyContinental BallroomThe session will discuss progress made in screening and treating SMA, with a focus on assay methods. Participants will have a better understanding for how to implement screening for SMA into their newborn screening programs.

Moderators: Amy Gaviglio, MS, CGC, Minnesota Department of Health Guisou Zarbalian, MS, MPH, Association of Public Health Laboratories

Challenges in Revalidation of the TREC qPCR Assay as a Multiplex SCID-SMA Assay• Michele Caggana, ScD, New York State Department of Health

One Year Update: Population Wide Screening for Spinal Muscular Atrophy (SMA, due to a homozygous deletion of exon 7 in SMN1) and Severe Combined Immunodeficiency• Andreas Rohrwasser, PhD, MBA, Utah Department of Health

Implementation and One Year of Screening for Spinal Muscular Atrophy: The Minnesota Experience• Carrie Wolf, MBS, Minnesota Department of Health

Is it Really “NOT” SMA? Reassurance and Insights from 3rd Tier DNA Sequencing after High-Throughput Newborn Screening for SMA• Binod Kumar, PhD, New England Newborn Screening Program


Tuesday, April 9

6:00 pm – 10:00 pmOff-site Evening SocialSponsored by PerkinElmer, Inc.


WEDNESDAY, APRIL 107:00 am – 1:30 pm


7:00 am – 8:00 am

ISNS Membership MeetingWilliford A

7:30 am – 9:00 amCoffeeContinental Foyer

8:30 am – 10:00 am

Molecular Technology and UtilityContinental BallroomThe focus of this session is on national efforts to expand molecular testing for several disorders through sequencing, including congenital adrenal hyperplasia, severe combined immunodeficiency (SCID) and cystic fibrosis. An algorithm for targeted next generation sequencing for dried blood spots will also be highlighted.

Moderators: Patricia Hunt, Texas Department of State Health Services Rosemary Hage, PhD, Ohio Department of Health

Day Four588-837-19, 3.0 contact hours (P.A.C.E.)At the conclusion of today, the participant will be able to:• Evaluate NYS process and outcomes of implementing IRT-DNA-SEQ algorithm for

NBS of cystic fibrosis • Assess the utility of a SCID NGS panel for infants with low TREC values and

results from the pilot study.• Describe Iowa’s process for review and consideration of conditions to the Iowa

NBS panel• Analyze CK-MM assays used for newborn screening for Duchenne Muscular

Dystrophy


Wednesday, April 10

CYP21A2 Variant Panel as a 2nd Tier for Congenital Adrenal Hyperplasia Newborn Screening: Metrics from the Minnesota Experience• Kyriakie Sarafoglou, MD, University of Minnesota

Implementation of IRT-DNA-SEQ Algorithm Improves Cystic Fibrosis Newborn Screening in New York State• Denise Kay, PhD, New York State Department of Health

Second-tier Sequencing Analysis for VLCAD Deficiency in Texas: The First 13 Months• D’Andra Luna, Texas Department of State Health Services

Pilot Study for the Implementation of a Multi-Gene SCID Panel in Newborn Screening• Colleen Stevens, PhD, New York State Department of Health

Development and Roll-out of a Variant Database for Use by Newborn Screening Programs• Jaime Hale, MS, New England Newborn Screening Program

10:00 am – 10:30 amBreakContinental Foyer

10:30 am – 12:00 pm

Conditions Under ConsiderationContinental BallroomThere have been considerable advances in the development of new therapies for complex genetic conditions. The availability of these therapies accelerates the need for the development of technologies for screening. This session will focus on development of an assay and building the evidence base for DMD screening. Washington’s pilot study experience for mucopolysaccharidoses (MPS) and Iowa’s process for adding conditions to its state panel will also be discussed in detail.

Moderators: Michelle Caggana, ScD, New York State Department of Health Sikha Singh, MHS, PMP, Association of Public Health Laboratories

Management of Iowa’s Newborn Screening Panel and Addition of New Conditions• Kimberly Noble Piper, RN, BSN, CPH, CPHG, Iowa Department of Public Health


Wednesday, April 10

Newborn Screening for Mucopolysaccharidoses: Pilot Studies and Biomarkers• Michael Gelb, PhD, University of Washington

Early Check: Initial Findings• Don Bailey, PhD, RTI International

DMDNBS Cloud: Creating the Evidence Base for Duchenne Muscular Dystrophy Newborn Screening• Amy Brower, PhD, American College of Medical Genetics and Genomics

Evaluation of a Suitable CK-MM Assay in Newborn Screening for Duchenne Muscular Dystrophy• Mei Baker, MD, Wisconsin State Laboratory of Hygiene

12:00 pm – 1:00 pm

Special SessionContinental BallroomThis session will review the system for reporting cases of notifiable infectious diseases from states to the CDC and highlight how such data are analyzed and disseminated at both the state and national levels. Best practices potentially transferable to newborn screening programs will be discussed.

National Case-Level Reporting for Newborn Screening: Lessons Learned from Infectious Diseases• David Wong, CAPT MD, US Department of Health and Human Services

• Coleen Boyle, PhD, MS, Centers for Disease Control and Prevention

1:00 pmAdjournment

1:30 pm – 4:00 pmOptional tour of the Illinois State Newborn Screening Laboratory(Pre-registration is required)

Visit PerkinElmer at Booth 201 to learn more about:

INNOVATINGFOR A HEALTHIER

WORLD.STEP INTO THE FUTURE.

NEW! For a complete insight on newborn screening products, services and latest updates, visit our website: www.newbornscreening.perkinelmer.com

• NeoBase™ 2 Non-derivatized MSMS kit • NeoLSD™ MSMS Kit • Migele™ Gel Electrophoresis Unit • QSight® 210 MD Screening System • Customer Contracted Manufacturing Services• PerkinElmer Genomics Sequencing Services and 2nd Tier Molecular Testing

Services


Exhibitors

Exhibit Hall ScheduleApril 7–9, 2019International Ballroom

Sunday, April 7 4:00 pm – 7:30 pm Hall Open 4:00 pm – 4:30 pm Break 6:00 pm – 7:30 pm Welcome Reception

Monday, April 8 10:00 am – 5:00 pm Hall Open 10:30 am – 11:00 am Break 12:30 pm – 2:00 pm Box Lunch 4:00 pm – 4:30 pm Break

Tuesday, April 9 10:00 am – 4:00 pm Hall Open 10:00 am – 10:30 am Break 12:45 pm – 1:30 pm Dessert 3:00 pm – 4:00 pm Break (Raffle Drawing 3:30 pm)

Meet the Manufacturers ScheduleMonday, April 86:30 pm – 7:45 pmWilliford A-C

6:30 pm Baebies, Inc.

6:45 pm OZ Systems

7:00 pm Astoria- Pacific, Inc.

7:15 pm Cambridge Isotope Laboratories

7:30 pm PerkinElmer


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Visit the Exhibitors! Win Prizes!Visit with the vendors and win prizes! Take the exhibit raffle card from your tote bag and visit each exhibit booth. Ask one of the booth personnel to sign their initials in the box corresponding to their booth number. When all of the boxes are filled, turn the card in at the registration desk. Cards must be turned in at the registration desk no later than 3:00 pm on Tuesday, April 9. Be sure to include your name on the card. Winners of the prizes will be announced starting at 3:30 pm on Tuesday in the exhibit hall. You must be present to win.

PRIZES• Two coach tickets on Delta Airlines to anywhere within the continental United States

• Complimentary registration to the 2020 Newborn Screening & Genetic Testing Symposium

• One coach ticket on United Airlines to anywhere within the continental United States

• One coach airline ticket on Delta Airlines to anywhere in the continental United States

• Laptop backpack, stainless steel water bottle and wireless mouse (compliments of RTI International)

• Kindle Paperwhite e-reader with cover (compliments of APHL)

• Chicago mystery bag (compliments of Jelili Ojodu)

• 1 coach ticket on American Airlines to anywhere within the continental United States

• $100 (compliments of Baebies, Inc.)

• Apple 3 Watch (compliments of EBF, Inc.)

• $100 Visa gift card (compliments of Cambridge Isotope Laboratories)

• Chillax Inflatable Lounger (2) (compliments of OZ Systems)

• NBS04 -Newborn Screening by Tandem Mass Spectrometry, 2nd Edition and a $25 Amazon gift card (compliments of CLSI)


Exhibitors

Up from 1st Floor Down to 1st Floor

Down to 1st Floor, Continental Foyer

Stairs up to 3rd FlWilliford Rooms

(Roundtables, Innovate!,Meet the Manufacturers)

ESC ESC

STAIR

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118 119 218 219 221 318

114

112

108

106

104

102

100

309

307

305

303

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103

101

202

200

306

304201

317

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International BallroomExhibits • Posters • Breaks • Receptions

Food andBeverage

Posters1–80

Posters

Posters81–163

Posters

Exhibitors100/102 Baebies101 Luminex Corporation103 CLSI104 Baby’s First Test106 Sebia, Inc.108 Cambridge Isotope Laboratories112 Quantabio114 RTI International116 Greenwood Genetic Center118/119/ NBS V.O.I.C.E 218118 Integrated Software Solutions119 Astoria-Pacific, Inc.218 Microelectronics Systems200 Natus Medical, Inc.

201 PerkinElmer202 Agena Biosciences219 Waters Corporation221 AveXis301 STAT Courier303 National Coordinating Center for Regional Genetics Networks305/307 Centers for Disease Control & Prevention309 OZ Systems313 EBF, Inc.315 Bio-Rad Laboratories317 Mayo Clinic Laboratories318 SNP Biotechnology R&D Ltd. APHL Newborn Screening and Genetics Program (Continental Ballroom Foyer)

A new approach to providing complete Newborn Screening solutions. V.O.I.C.E. is a group of NBS vendors dedicated to advancing the goals of the NBS community through contin-ued research, development, sales, and support.

HOW DOES V.O.I.C.E. BENEFIT ME AND MY PROGRAM?

WWW.NBSVOICE.ORG

VOICE

1 CHOICEChoose from any V.O.I.C.E. member’s available assays, instrumentation, and software. All vendors are committed to working together to support the solution you choose.

2 TRUSTV.O.I.C.E. members combined have over 60+ years of supporting newborn screening programs with high quality products and services. The vendors you already know, the solutions you’re already using – all working together to give you one V.O.I.C.E.

3 SCALEABILITYYou can add new products and services from V.O.I.C.E. vendors at any time. Furthermore, V.O.I.C.E. vendors all work together and can provide contact information so you can quickly get the information you need.

C O O P E R AT I V E

CO M P E T I T I V E


Exhibitors

Agena Bioscience Booth 2024755 Eastgate Mall, San Diego, CA 92121 • 858.882.2748www.agenabio.com

Agena Bioscience is a leader dedicated to enabling clinical laboratories to deliver affordable targeted genomic testing. Our highly sensitive and cost-effective MassARRAY® System is used globally for hereditary genetic analysis related to CFTR, SMA, SCID and hearing loss.

Association of Public Health Laboratories Continental Ballroom FoyerNewborn Screening and Genetics Program Bronze Circle8515 Georgia Ave., Suite 700, Silver Spring, MD 20910 • 240.485.2726www.newsteps.org

The APHL Newborn Screening and Genetics Program offers symposium workshops, webinars, access to molecular and quality improvement resources and more. Additionally, the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) provides data, technical assistance, new disorder implementation resources and training to newborn screening programs across the country, with the recently funded Quality Improvement Project (HRSA) providing technical assistance and direct funding to states to support quality improvements in the newborn screening system.

Baby’s First Test Booth 1044301 Connecticut Ave., Suite 404, Washington, DC 20008 • 202.966.5557www.babysfirsttest.org

Baby’s First Test is the nation’s resource center for newborn screening information. We help to inform and support millions of families and healthcare professionals throughout the newborn screening experience.

Baebies, Inc. Booths 100 & 102615 Davis Dr., Suite 800, Durham, NC 27709 • 919.891.0432 Silver Circlewww.baebies.com Gold Member

Partner with Baebies on innovative newborn screening solutions. Currently in 6 states, SEEKER is the first FDA-cleared screening platform for LSDs including Pompe and MPS I. While we promise collaboration and responsive service, Baebies also delivers equity of care with second-tier sequencing and plans to expand our assay pipeline. Let’s talk.

LIST OF EXHIBITORS


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Bio-Rad Laboratories Booth 3154000 Alfred Nobel Dr., Hercules, CA 94547 • 510.741.1000 Bronze Circlewww.bio-rad.com Platinum Member

Bio-Rad Clinical Diagnostics Group develops, manufactures, sells and supports a large portfolio of products for medical screening and diagnostics. Bio-Rad Laboratories is considered a global leader in thalassemia and sickle cell screening, providing “Gold Standard” automated solutions for newborn, antenatal and premarital screening programs worldwide, for more than 25 years.

Cambridge Isotope Laboratories, Inc. Booth 1083 Highwood Dr., Tewksbury, MA 01876 • 978.749.8000 Bronze Circlewww.isotope.com

Since 1981, Cambridge Isotope Laboratories, Inc. (CIL) has been known for manufacturing quality analytical standards. CIL offers stable isotope-labeled standards of amino acids and carnitine/acylcarnitines for use in lab-developed tests utilizing tandem mass spectrometry. CIL has obtained the CE mark and can manufacture standards to be compliant with ISO 13485.

Delivering innovative newborn screening solutions

• SEEKER®

FDA-cleared newborn screening platform for LSDs including Pompe and MPS I

• Second Tier Sequencing

• Assay Pipeline Expansion

Visit www.baebies.com Contact us [email protected]


Exhibitors

Centers for Disease Control and Prevention Booths 305 & 3074770 Buford Hwy NE, Atlanta, GA 30341 • 770.488.7571www.cdc.gov

CDC’s Newborn Screening and Molecular Biology Branch administers the only comprehensive Newborn Screening Quality Assurance Program using dried blood spots worldwide. The Branch develops in-house methods for new conditions and builds capacity within Newborn Screening Programs by providing training and technology transfer and by facilitating screening implementation for new conditions.

Clinical and Laboratory Standards Institute (CLSI) Booth 103950 West Valley Road, Suite 2500, Wayne, PA 19087 • 484.588.5936 Bronze Circlewww.clsi.org Corporate Colleague

A not-for-profit membership organization, the Clinical and Laboratory Standards Institute (CLSI) brings together the global laboratory community for a common cause: fostering excellence in laboratory medicine. For 50 years, our members, volunteers and customers have made CLSI a respected, transformative leader in the development and implementation of medical laboratory testing standards.

Learn more about CLSI’s newborn screening products, like our new document NBS08, Newborn Screening for Hemoglobinopathies at clsi.org/nbs.

Early disease detection in newborns is critical. Timely newborn screening improves patient outcomes and can even prevent death. Give your staff the tools they need to perform the most up-to-date testing procedures with CLSI’s library of globally trusted standards.

Perform High Quality Newborn Screening With CLSI


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EBF, Inc. Booth 313530 Old Sulphur Springs Rd., Greenville, SC 29607 • 864.234.8222 Bronze Circlewww.ebf-inc.com

Eastern Business Forms, Inc. has been a leading provider of newborn screening collection devices for more than 40 years. Our goal is to exceed customer requirements by leveraging our extensive manufacturing experience and providing superior customer service. EBF is the exclusive provider of Whatman 903 filter paper in the United States.

Greenwood Genetic Center Booth 116106 Gregor Mendel Circle, Greenwood, SC 29646 • 800.388.1734www.ggc.org

The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational resources, and research in the field of medical genetics. Our laboratory offers biochemical, cytogenetic, and molecular diagnostic testing. We strive to ‘Give Greater Care’ by combining state-of-the-art diagnostics with exceptional service.

[email protected] • WWW.SPOTCHECKNBS.COM

NEWBORN SCREENING SOLUTIONS

CELEBRATING 25 YEARS PROUDLY SERVING THE GLOBAL NEWBORN SCREENING COMMUNITY


Exhibitors

Luminex Corporation Booth 10112212 Technology Blvd., Austin, TX 78727 • 512.381.3265 Diamond Memberwww.luminexcorp.com

Luminex is committed to creating innovative, breakthrough solutions to help our customers improve health and advance science worldwide. We serve the needs of our customers in diverse markets including clinical diagnostics, pharmaceutical drug discovery, biomedical research, genomic and proteomic research and personalized medicine.

Mayo Clinic Laboratories Booth 3173050 Superior Dr. NW, Rochester, MN 5501 • 507.293.7093www.mayocliniclabs.com

Mayo Clinic Laboratories partners with organizations around the globe to help answer the most complex questions facing patients. With the most sophisticated test menu in the world, laboratory diagnostic testing and pathology services from Mayo Clinic span every medical subspecialty. We are committed to putting the needs of all patients first by focusing on providing clinically relevant answers, not just test results.

National Coordinating Center for the Regional Booth 303 Genetic Networks7101 Wisconsin Ave., Suite 1101, Bethesda, MD 20814 • 301.718.9603www.nccrcg.org

The mission of the seven HRSA Regional Genetics Networks (RGNs), their National Coordinating Center (NCC), and the National Genetics Education and Family Support Center (NGEFSC) is to improve access to quality genetic services for medically underserved populations. The NCC is funded by a cooperative agreement to ACMG from the Health Resources and Services Administration, Maternal and Child Health Bureau, Genetic Services Branch (HRSA/MCHB/GSB).

Natus Medical, Inc. Booth 2001501 Industrial Road, San Carlos, CA 94070 • 800.303.0306 Bronze Circlewww.natus.com

Neometrics systems have been the premier choice of laboratory and case management groups for over 35 years – establishing the largest customer base for newborn screening data management in the United States. Case management and reporting tools integrate results for metabolic and hearing screening and environmental testing – facilitating rapid follow-up and intervention.


NBS V.O.I.C.E. Booth 118, 119 & 218Newborn Screening Vendors for Open Integrated Gold Circle Collaboration & Expertise

The purpose of NBS V.O.I.C.E is to provide the newborn screening community with an open group of vendors offering a complete solution and the assurance that V.O.I.C.E. members are committed to work closely together to support the client in whatever solution(s) the client chooses. A joint effort currently comprised of Astoria-Pacific, Integrated Software Solutions, and Microelectronic Systems, V.O.I.C.E. is open to all vendors who commit to interoperability with other members and provides Newborn Screening Programs with the ability to select different vendors to achieve a complete solution.

Astoria-Pacific, Inc. Booth 11915130 SE 82nd Dr., Clackamas, OR 97015 • 503.657.3010www.astoria-pacific.com

Celebrating 25 years of dedication and delivery of quality products and customer-focused services to newborn screening laboratories worldwide, Astoria-Pacific, Inc. is proud to share with you our SPOTCHECK® reagent kits, reference materials, instrumentation, services and support.

Integrated Software Solutions Booth 118558 Sun Valley Drive, Akron, OH • 330.730.4549www.iss-lims.com

Specialist Newborn Screening LIMS and Case Management software providing the complete NBS solution.

Microelectronic Systems Booth 218Unit 17, 18 Hinkler Court, Brendale, QLD 4500 Australia • +61.1.3881.1834www.bsdrobotics.com

Microelectronic Systems proudly design, manufacture, distribute and service the current BSD Punchers product range, offering 2, 6 and 9 plate solutions for newborn screening laboratories.

OZ Systems Booth 3092201 East Lamar Blvd., Suite 260, Arlington, TX 76006 • 847.227.7507 Silver Memberwww.ozsystems.com

OZ Systems is an innovator in global screening solutions, bridging crucial information gaps to ensure quality care and timely interventions for patients and those who care for them. We develop end-to-end newborn screening software that reduces human errors and improves patient safety, quality of care and intervention timeliness. We are recognized for interoperability, and innovation in design and partnerships. OZ Systems has projects with U.S. and international health care providers and public health agencies.

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Exhibitors

PerkinElmer Island 201710 Bridgeport Ave., Shelton, CT 06484 • 203.402.1994 Gold Circlewww.perkinelmer.com Diamond Member

PerkinElmer is a global leader committed to innovating for a healthier world. Our dedicated team of 8,000 employees worldwide are passionate about providing customers with an unmatched experience as they help solve critical issues especially impacting the diagnostics, discovery and analytical solutions markets. Our innovative detection, imaging, informatics and service capabilities, combined with deep market knowledge and expertise, help customers gain earlier and more accurate insights to improve lives and the world around us.

Quantabio Booth 204100 Cummings Center, Beverly, MA 01915 • +49.2.103.29.15480 Bronze Circlewww.quantabio.com Silver Member

Quantabio is a leading provider of advanced DNA and RNA amplification reagents for the most demanding molecular testing applications in applied, translational and life science research. The Quantabio team leverages decades of experience in developing pioneering amplification technologies to deliver cutting-edge products to researchers focused on critical cloning, PCR, qPCR and Next-Generation Sequencing (NGS) based applications.

RTI International Booth 1143040 E. Cornwallis Rd., Research Triangle Park, NC 27709 • 919.541.7383www.rti.org

RTI International is an independent, nonprofit research institute dedicated to improving the human condition. We combine scientific rigor and technical expertise in social and laboratory sciences, engineering, and international development to deliver solutions to the critical needs of clients worldwide.

Sebia Booth 10627 Rue Leonard de Vinci, CP 8010 Lisses, Bronze Circle Evry Cedex 91008 France • +33.1698.98080www.sebia.com

Sebia, key player in hemoglobinopathies diagnosis, offers to NBS laboratories capillary electrophoresis solution allowing accurate screening of hemoglobinopathies and thalassemias, at a high resolution and high throughput. To improve productivity and automation in the laboratories, Sebia is developing this assay on the CAPILLARYS 3 TERA, allowing full routine workflow integration.


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SNP Biotechnology R&D Ltd. Booth 318Hacettepe Technopolis , Ankara, Turkey • +90.312.2992328www.snp.com.tr

Our research & development laboratory was established at Hacettepe University Technopolis in early 2011. Specific Single Nucleotide Mutation (SNP) Analysis System were developed to detect many SNP analysis such as Factor V Leiden (G1691A), Factor V Cambridge (G1091C), Factor II Prothrombin (G20210A), MTHFR C677T and MTHFR A1298C mutations. Multiplex PCR development to detect some diseases, FMF (Familial Mediterranean Fever), CF (Cystic Fibrosis), etc. are in marketing.

STAT Courier Service, Inc. Booth 30116 Hawk Ridge Dr. , Lake St. Louis, MO 63367 • 636.561.7916www.stat-courier.com

STAT Courier Service Inc. is a nationwide Medical Courier based in St. Louis, Missouri serving multiple state public health laboratories with newborn screening courier services. STAT Courier Service Inc. provides the vital link in ensuring all NBS testing is picked up from all hospitals and birthing centers statewide and delivered in a timely and reliable manner into the state public health laboratory.

Need reliable pick up and delivery of all your Newborn Screening Tests?

Visit us atBooth 301!

www.stat-courier.com1-888-592-STAT


Exhibitors

Waters Corporation Booth 21934 Maple St., Milford, MA 01757 • 508.482.3953 Bronze Circlewww.waters.com Platinum Member

Waters Corporation creates business advantages for clinical laboratories by delivering medical devices to enable customers to meet the rigorous demands of today’s regulations. The Waters suite of products and services help customers optimize laboratory operations, deliver throughput capacity, and ensure regulatory compliance with an integrated portfolio of pre-analytical products, IVD LC-MS systems, laboratory informatics, as well as technical services and training.

AveXis Booth 2212275 Half Day Rd, Ste 200, Bannockburn, IL 60015 • 847.572.8280www.AveXis.com

AveXis, a Novartis company, is dedicated to developing and commercializing novel treatments for patients suffering from rare and life-threatening neurological genetic diseases. Initial product candidate, ZOLGENSMA, is its proprietary gene therapy currently in development for the treatment of spinal muscular atrophy, or SMA. AveXis also plans to develop other novel treatments for rare neurological diseases, including Rett syndrome and a genetic form of amyotrophic lateral sclerosis caused by mutations in the superoxide dismutase 1 (SOD1) gene.


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GOLD CIRCLE:

• PerkinElmer

BRONZE CIRCLE:

• APHL Newborn Screening Program

• Bio-Rad Laboratories• Cambridge Isotope

Laboratories

• Clinical and Laboratory Standards Institute

• EBF, Inc.• Natus Medical, Inc.

• Quantabio• Sebia• Waters Corporation

SILVER CIRCLE:

• Baebies

EXHIBITORS:

• Agena Bioscience• AveXis• Baby’s First Test• Centers for Disease

Control and Prevention

• Greenwood Genetic Center• Luminex Corporation• Mayo Clinic Laboratories• National Coordinating

Center for the Regional Genetics Networks

• OZ Systems• RTI International• SNP Biotechnology

R&D Ltd.• STAT Courier

Service, Inc.

Visit These Exhibitors in the Exhibit Hall

Tote bags, water bottles

Thanks to Our Sponsors!

• NBS V.O.I.C.E. (comprised of the following):• Astoria-Pacific, Inc.• Integrated Software Solutions• Microelectronic Systems

Tote bags, hotel key cards, general

symposium support

General symposium support

Pad folios

Welcome Reception beverages

Monday morning coffee break

Innovative FDA Authorized Newborn Screening PlatformFrom heel prick to phone call, SEEKER accelerates delivery

of reported results.

Visit us at booth 215Don’t miss our Innovate! session and booth demo

www.baebies.com

Reliable | Cost Effective | Easy to Use | Incredibly Fast

SEEKER is designed for ease of use and quick implementation.

High throughput laboratory solution that quantitatively measures the activity of lysosomal enzymes from

newborn dried blood spot specimens.Reduced activity of these enzymes may be indicative of

MPS I, Pompe, Gaucher, Fabry.

S O L U T I O N S

Newborn Screening and Genetics ProgramIt’s all about the babies!

Visit our booth in the Continental Foyer to learn more about resources and services available to support newborn screening (NBS) programs and NBS stakeholders.

Stop by

our booth

and visit us!

Technical Assistance (TA)/ Resources: • Molecular Assessment Program (MAP) visits, conducted in collaboration with CDC • Comprehensive and focused NewSTEPs site reviews • National meetings (STFU, HIT, New Disorders and Timeliness) • National Webinars • Workshops (tandem mass spectrometry (MS/MS) laboratory workshop, MS/MS

follow-up workshop, molecular workshop, Pompe and LSDs workshop)• Training materials and laboratory tools • Online ColLABorate Commvunities to encourage discussion • Fellowships (Ron Laessig, NBS bioinformatics)• National NBS data in the NewSTEPs data repository• NewSTEPs website and resource library

APHL’s Newborn Screening and Genetics Program strengthens the role of public health laboratories in genetic testing and designs strategies to address changes in the field of NBS.

www.aphl.org/NBS

The APHL NBSG program activities are guided by a number of committees, workgroups and task forces. If you are an APHL member and interested in contributing, please reach out to us at [email protected].

General symposium support

Newborn Screening and Genetics ProgramIt’s all about the babies!

Visit our booth in the Continental Foyer to learn more about resources and services available to support newborn screening (NBS) programs and NBS stakeholders.

Stop by

our booth

and visit us!

Technical Assistance (TA)/ Resources: • Molecular Assessment Program (MAP) visits, conducted in collaboration with CDC • Comprehensive and focused NewSTEPs site reviews • National meetings (STFU, HIT, New Disorders and Timeliness) • National Webinars • Workshops (tandem mass spectrometry (MS/MS) laboratory workshop, MS/MS

follow-up workshop, molecular workshop, Pompe and LSDs workshop)• Training materials and laboratory tools • Online ColLABorate Commvunities to encourage discussion • Fellowships (Ron Laessig, NBS bioinformatics)• National NBS data in the NewSTEPs data repository• NewSTEPs website and resource library

APHL’s Newborn Screening and Genetics Program strengthens the role of public health laboratories in genetic testing and designs strategies to address changes in the field of NBS.

www.aphl.org/NBS

The APHL NBSG program activities are guided by a number of committees, workgroups and task forces. If you are an APHL member and interested in contributing, please reach out to us at [email protected].


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The full poster and oral abstracts may be found on the symposium website www.aphl.org/nbsgts. The full poster abstracts are also available on the mobile app.

Posters may be viewed in the International Ballroom during exhibit hall hours on Sunday, Monday and Tuesday, April 7-9. *Posters that have been selected to be part of the Poster Speed Dating Session on Monday, April 8.

P-001Misclassification of VLCAD Carriers in Newborn ScreeningA. Atkins1, B. Tarini1, E. Phillips2, A. Calhoun2; 1Children’s National Medical Center, Washington, DC, 2The University of Iowa Stead Family Children’s Hospital, Iowa City, IA

Presenter: Anne Atkins, MPH, Children’s National Medical Center, Washington, DC, Email: [email protected]

P-002CF Screening Efficacy and Seasonal Variation in California: 10-year Comparison of IRT Cutoffs Versus Daily Percentile for 1st-tier TestingS. Sciortino, S. Graham, H. Chow, T. Bishop, R. Kharrazi and L. Feuchtbaum, California Department of Public Health, Richmond, CA

Presenter: Stanley Sciortino, PhD, MPH, Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, Voice: 510.231.7464, Email: [email protected]

P-003New Online Course on Analytical Validation of a Biochemical Genetic Test Using Liquid Chromatography — Tandem Mass SpectrometryB. Chen1, B. Su2; 1Centers for Disease Control and Prevention, Atlanta, GA, 2Association of Public Health Laboratories, Silver Spring, MD

Presenter: Bertina Su, MPH, Association of Public Health Laboratories, Silver Spring, MD, Voice: 240.485.2729, Email: [email protected]

POSTER ABSTRACTS


Poster Abstracts

P-004Update on the Online Course to Help Laboratory Professionals and Healthcare Providers Improve Preanalytic Processes of Biochemical Genetic TestingB. Chen1, B. Su2; 1Centers for Disease Control and Prevention, Atlanta, GA, 2Association of Public Health Laboratories, Silver Spring, MD

Presenter: Bertina Su, MPH, Association of Public Health Laboratories, Silver Spring, MD, Voice: 240.485.2729, Email: [email protected]

P-005APHL Newborn Screening Health Information Technology (HIT) User GroupsS. Edelman1, O. Akinsola1, E. Darby1, G. Zarbalian1, J. Miller2, C. Yusuf1; 1Association of Public Health Laboratories, Silver Spring, MD, 2Center for Public Health Innovation, CI International, Littleton, CO

Presenter: Sari Edelman, MPH, Association of Public Health Laboratories, Silver Spring, MD, Voice: 240.485.3839, Email: [email protected]

P-006*Quality Improvement Efforts in Arkansas - A Five Year UpdateL. Himstedt, P. Purifoy and T.M. Lin, Arkansas Department of Health, Little Rock, AR

Presenters: Leslie Himstedt, BS, MT(ASCP) and Pat Purifoy, RN, Public Health Laboratory, Arkansas Department of Health, Little Rock, AR, Voice: 501.661.2445, Email: [email protected]

P-007Arkansas’ Strategic Planning for Second Screening: Lessons from States that Have Walked this PathL. Hays1, M.F. Dooley2; 1University of Arkansas for Medical Sciences, Little Rock, AR, 2Arkansas Department of Health, Little Rock, AR

Presenter: Laura Hays, University of Arkansas for Medical Sciences, Little Rock, AR, Email: [email protected]


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P-008Arkansas Newborn Screening Long-Term Follow-up Database Study – ANGELS Newborn Screening 2017 Annual ReportJ. Bolick1, J. Nick2, G.B. Schaefer1; 1University of Arkansas for Medical Sciences/Arkansas Children’s Hospital, Little Rock, AR 2Arkansas Children’s Research Institute, Little Rock, AR

Presenter: Jo Bolick, Arkansas Children’s Hospital, Little Rock, Voice: 501.364.1906, Email: [email protected]

P-009Reliability of a Long-established Newborn Screening Programme for Cystic Firbrosis - Review of Late DiagnosesN. Heather1, C.A. Byrnes2, M. Jaksic2, J. Tate3, D. Webster1; 1Auckland City Hospital, Auckland, New Zealand, 2University of Auckland and Starship Children’s Hospital, Auckland, New Zealand, 3Starship Children’s Hospital, Auckland, New Zealand

Presenter: Natasha Heather, LabPlus, Auckland City Hospital, Auckland, New Zealand, Voice: +64.9.3074949, Email: [email protected]

P-010*Newborn Screening for G6PD Deficiency and the Mutational Spectrum in VietnamV.T.T. Hoan, P.T. Hue, D.T.T. Mai, N.T. Hoai and L.Q. Hai, Bionet Vietnam Newborn Screening Center, Hanoi City, Vietnam

Presenter: Luyen, Quoc Hai, BIONET, Hanoi City, Vietnam, Voice: +84.393.611.678, Email: [email protected]

P-011Novel Multiplex Method for High Throughput Screening of Pompe, MPS I and X-ALD DisordersK. Dhillon, P. Neogi, P. Roworth, J. Aduviso, T. Ho, I. Sen, R. Zahedi, A. Foor and R. Koupaei, California Department of Public Health, Richmond, CA

Presenter: Kuldeep Dhillon, CCS(CA), MB(ASCP)CM, Genetic Disease Laboratory Branch, California Department of Public Health, Richmond, CA, Voice: 510.231.1710, Email: [email protected]


Poster Abstracts

P-012Novel Specimen Card Design and Accession Process for Newborn Screening Test Request Forms (TRF) with Newly-launched Pompe DiseaseY. Hou, G. Castro, J. Palacios, T. Bishop, M. Sartippour, R. Cooley, S. Graham, A. Enriquez, R. Cervantes, and R. Koupaei, California Department of Public Health, Richmond, CA

Presenter: Yu Hou, PhD, Genetic Disease Laboratory Branch, California Department of Public Health, Richmond, CA, Voice: 510.231.1735, Email: [email protected]

P-013Newborn Screening for SCID Using Neonatal TREC Kits in CaliforniaC. Aznar, L. Wu, M. Sartippour, R. Mathur, J. Dhaliwal, T. Bishop, R. Olney and R. Koupaei, California Department of Public Health, Richmond, CA

Presenter: Constantino Aznar, Genetic Disease Laboratory Branch, California Department of Public Health, Richmond, CA, Voice: 510.231.1715, Email: [email protected]

P-014Overview of California ALD Screening - A Thirty Month ExperienceP. Neogi, K. Dhillon, J. Matteson, P. Roworth, J. Aduviso, M. Mehdavi, G. Singh, L. Forero, A. Foor, T. Torres, M. Lugo, R. Kaur, R. Zahedi, I. Sen and R. Koupaei, California Department of Public Health, Richmond, CA

Presenter: Partha Neogi, PhD, CCS, Genetic Disease Laboratory Branch, California Department of Public Health, Richmond, CA, Voice: 510.231.1712, Email: [email protected]

P-015Optimizing Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in CaliforniaP. Neogi, K. Dhillon, P. Rich, I. Sen, P. Roworth, J. Aduviso, R. Miranda, C. Aznar and R. Koupaei, California Department of Public Health, Richmond, CA

Presenter: Partha Neogi, PhD, CCS, Genetic Disease Laboratory Branch, California Department of Public Health, Richmond, CA, Voice: 510.231.1712, Email: [email protected]


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P-016Classic Galactosemia in California: GALT Activity and Common MutationsM. Sartippour, R. Doroudian, C. Aznar, F. Samimi, T. Ho and R. Koupaei, California Department of Public Health, Richmond, CA

Presenter: Maryam Sartippour, PhD, MSc, Genetic Disease Laboratory Branch, California Department of Public Health, Richmond, CA, Voice: 510.231.1718, Email: [email protected]

P-017*Short-Term Follow-Up for Newborns with an ABCD1 Variant of Uncertain SignificanceJ. Matteson, S. Sciortino, L. Feuchtbaum, T. Bishop and H. Tang, California Department of Public Health, Richmond, CA

Presenter: Jamie Matteson, Genetic Disease Laboratory Branch, California Department of Public Health, Richmond, CA, Email: [email protected]

P-018An Accelerated Pilot Proficiency Testing Program to Measure SMA Screening Assay Performance in Newborn Screening LaboratoriesE.S. Torres, S. Winchester, N. Baird, C. Cuthbert and F. Lee, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: E. Shannon Torres, Newborn Screening & Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-019Performance of Multi-Level Testing Algorithms for Sickle Cell and Other Hemoglobinopathies Proficiency TestingI. Williams, J. Mei, Q. Bui and K. Stewart, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Irene Williams, MS, MT(ASCP), Newborn Screening & Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7024, Email: [email protected]


Poster Abstracts

P-020*Critical Congenital Heart Disease Screening in the United StatesM. Sontag1, A. Gaviglio2, E. Darby3, S. Singh3, L. Hom4; 1Center for Public Health Innovation, Littleton, CO, 2Minnesota Department of Health, St. Paul, MN, 3Association of Public Health Laboratories, Silver Spring, MD, 4Children’s National Heart Institute, Washington, DC

Presenter: Marci Sontag, PhD, MS, Center for Public Health Innovation, CI International, Littleton, CO, Voice: 303.549.5613, Email: [email protected]

P-021Assessing the Performance of Multiple Dried Blood Spot DNA Extraction Methods using Two NGS MethodsM. Hendrix and S. Cordovado, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Miyono Hendrix, MS, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.4767, Email: [email protected]

P-022Development of a New Generation of Proficiency Testing Dried Blood Spots Materials for Mass Spectrometry-based Newborn ScreeningT. Lim, B. Kenwood, J. Hendricks and K. Petritis, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Timothy Lim, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7045, Email: [email protected]

P-023A Systematic Study of Hydrolytic Degradation of Acylcarnitines During Sample Preparation and Analysis In Newborn Screening using Tandem Mass SpectrometryD. Chace1, T. Lim2, K. Petritis2; 1Medolac, 2Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Timothy Lim, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7045, Email: [email protected]


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P-024Creating Quality Control Dried Blood Spots Representing Rare Genetic Conditions for Molecular Testing using Synthetic Double-stranded Gene FragmentsS. Winchester, N. Baird, E.S. Torres, C. Cuthbert and F. Lee, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Sophia Winchester, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-025Pilot Molecular Galactosemia Program: The 2 Year ExperienceL. Hancock, L.C.B. Hildreth, S. Cordovado and C. Cuthbert, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Laura Hancock, MS, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.4617, Email: [email protected]

P-026Development of High Resolution Mass Spectrometry Applications in Newborn Screening for Determination of Amino Acids and Acylcarnitines from Dried Blood SpotsA. Pickens and K. Petritis, Centers for Disease Control and Prevention, Atlanta GA

Presenter: Austin Pickens, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.498.5586, Email: [email protected]

P-027Development of a CYP21A2 variant assay for 2nd-tier molecular Congenital Adrenal Hyperplasia Newborn ScreeningC. Greene1, Z. Detwiler1, B. Warman2, G. Radloff2, C. Wolf2, A. Hietala2, A. Gaviglio2, M. McCann2, K. Sarafoglou3, C. P. Lorentz3, C. Cuthbert1, S. Cordovado1; 1Centers for Disease Control and Prevention, Atlanta, GA, 2Minnesota Department of Health, St. Paul, MN, 3University of Minnesota, Minneapolis, MN

Presenter: Christopher Greene, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.4845, Email: [email protected]


Poster Abstracts

P-028Second-tier Newborn Screening Assays for Detection of Spinal Muscular AtrophyN. Baird, C. Cuthbert and F. Lee, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Nicolle Baird, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-029Implementation of State-wide Newborn Screening for Spinal Muscular Atrophy in Public Health Laboratories — An OverviewF. Lee, E.S. Torres, S. Winchester, N. Baird and C. Cuthbert, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Francis Lee, MSc, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7946, Email: [email protected]

P-030*Harmonizing Domestic and International Newborn Screening Labs MS/MS Analyte Results and Cutoffs using the CDC NSQAP Reference MaterialsA. Pickens1, M. Seeterlin2, V. De Jesus1, M. Morrissey3, A. Manning4, S. Bhakta5, P. Held6, K. Petritis1; 1Centers for Disease Control and Prevention, Atlanta, GA, Michigan Department of Health & Human Services, Lansing, MI, 3New York State Department of Health, Wadsworth Center, Albany, NY, 4Connecticut Department of Public Health, Rocky Hill, CT, 5Arizona Department of Health Services, Phoenix, AZ, 6Wisconsin State Laboratory of Hygiene, Madison, WI


P-031Development of Sanger Sequencing Assay to Characterize the IDUA Gene to Screen for Mucopolysaccharidosis Type I DiseaseS. Nikolova, C. Cuthbert and S. Cordovado, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Stanimila Nikolova, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.4174, Email: [email protected]


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P-032How Low Can You Go? Determining the Lymphocytes Transduction Success Isolated from Low Volumes of BloodK. Duneman, S. Nikolova, S. Cordovado and C. Cuthbert, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Katherine Duneman, MS, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.4373, Email: [email protected]

P-033A Performance Evaluation of the iPLEX Pro CFTR Assay using Dried Blood Spots from the CDC Cystic Fibrosis Dried Blood Spot RepositoryK. Mercer1, J. Crew2, J. Price2, V. Dhiman2, M. Hendrix1, S. Cordovado1; 1Centers for Disease Control and Prevention, Atlanta, GA, 2Illinois Department of Public Health, Chicago, IL

Presenter: Kristina Mercer, PhD, MPH, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice:404.498.0866, Email: [email protected]

P-034Separation of Isobaric Analytes Utilizing Microfluidic Chip-based Capillary Electrophoresis in Newborn Screening AssaysA. Pickens and K. Petritis, Centers for Disease Control and Prevention, Atlanta, GA


P-035Quality Control Data Used to Normalize Proficiency Testing Results for TSH, T4, 17OHP, and TGalE.M. Hall, C.A. Pickens, G. Pena, Q. Bui, J. Mei, and K. Petritis, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Elizabeth Hall, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7853, Email: [email protected]


Poster Abstracts

P-036A Universal Second-tier Screening Assay for the Detection of Maple Syrup Urine Disease, Methylmalonic Acidemia, Propionic Acidemia, Homocystinuria, and Guanidinomethyltransferase Deficiency Via Derivatized LC-MS/MSC. Asef and K. Petritis, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Carter Asef, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7297, Email: [email protected]

P-037Effects of Accelerated Drying on Dried Blood Spot Quality Assurance MaterialsS. Flores, T. Lim, B. Kenwood, J. Hendricks and K. Petritis, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Sharon Flores, MS, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.4182, Email: [email protected]

P-038Production of Quality Control Material for Adenosine Deaminase Severe Combined Immunodeficiency Newborn Screening using Mirror-image NucleosidesJ. Hendricks1, B. Young2, D. Foreman3, C. Hovell4, V. De Jesus1, C. Haynes1, K. Petritis1; 1Centers for Disease Control and Prevention, Atlanta, GA, 2Texas A&M University, College Station, TX, 3Medical College of Georgia, Augusta, GA, 4SpacePharma, Cape Canaveral, FL

Presenter: Jessica Hendricks, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Email: [email protected]

P-039Improvement of LC-MS/MS Quantification Accuracy When using Separate Internal Standards for C20-26 LysophosphatidylcholinesC. Haynes and K. Petritis, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Christopher Haynes, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7019, Email: [email protected]


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P-040Development of Quality Control Materials for Cerebrotendinous Xanthomatosis Newborn ScreeningC. Haynes and K. Petritis, Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Christopher Haynes, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7019, Email: [email protected]

P-041Stability of Markers in Dried Blood Spots at Variable Temperature and Humidity Parameters for Recommended Newborn Screening Diseases in the United StatesG. Pena1, K. Young2, S. Flores1, E. Hall1, C. Haynes1, T. Lim1, L. Li1, Q. Bui1, C. Asef1, J. Mei; 1Centers for Disease Control and Prevention, Atlanta, GA, 2Vanderbilt University Medical Center, Nashville, TN

Presenter: Gyliann Pena, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, Voice: 770.488.7924, Email: [email protected]

P-042Implementation of an ISO/IEC 17043 Compliant Quality Management System for the Newborn Screening Molecular and Biochemical Branch (NSMBB)G. Pena, J. Bernstein, J. Mei and C. Cuthbert, Centers for Disease Control and Prevention, Atlanta, GA


P-043*Comparison of Electrospray and Impactor (Unispray) Ionization Tandem Mass Spectrometry for the Analysis of Newborn Screening BiomarkersG. Pena, T. Lim, J. Mei and K. Petritis, Centers for Disease Control and Prevention, Atlanta, GA



Poster Abstracts

P-044Withdrawn

P-045*Does Increasing Birth Weight Interfere with Acylcarnitine and Amino Acid Results on the Newborn Screen?E. Wright1, G. Bonn2, P. Baker1; 1Children’s Hospital Colorado/University of Colorado, Aurora, CO, 2Colorado Department of Public Health and Environment, Denver, CO

Presenter: Erica Wright, MS, CGC, Children’s Hospital Colorado/University of Colorado, Aurora, CO, Voice: 720.939.3726, Email: [email protected]

P-046*A Missed Case of Classic Galactosemia: A Consequence of Too Many False Positives?S. Viall, Children’s National Medical Center, Washington, DC

Presenter: Sarah Viall, Children’s National Medical Center, Washington, DC, Voice: 513.479.4701, Email: [email protected]

P-047Newborn Screen for MPS I (Hurler Syndrome) – The Washington, DC ExperienceC. Grant1, T. Roshan Lal1, K. Crosby1, R. Hicks1, S. Viall1, P. Tanpaiboon2; 1Children’s National Medical Center, Washington, DC, 2Quest Diagnostics Nichols Institute, Chantilly, VA

Presenter: Sarah Viall, Children’s National Medical Center, Washington, DC, Voice: 513.479.4701, Email: [email protected]

P-048Clinical Utility of Confirmatory Genetic Testing to Differentiate Sickle Cell Trait from Sickle-β+-Thalassemia by Newborn ScreeningL. Shook, D. Haygood and C. Quinn, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH

Presenter: Lisa Shook, MA, MCHES, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, Voice: 513.636.7541, Email: [email protected]


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P-049Double the Trouble or Twice the Fun? Advantages and Disadvantages of Moving Servers While Upgrading a Laboratory Information Management SystemD. Michael and M. Maskrey, Colorado Department of Public Health and Environment, Denver, CO

Presenter: Darren Michael, PhD, Colorado Department of Public Health and Environment, Denver, CO, Voice: 303.692.3673, Email: [email protected]

P-050Creating a Peer-to-peer Network for the Colorado Newborn Screening SystemD. Michael, M. Maaskrey, K. Doak and G. Bonn, Colorado Department of Public Health and Environment, Denver, CO

Presenter: Darren Michael, PhD, Colorado Department of Public Health and Environment, Denver, CO, Voice: 303.692.3673, Email: [email protected]

P-051Difficulties in Establishing a Comprehensive Sickle Cell Newborn Screening Program in a Developing Country – The Nigerian ExperienceJ. Ubaike1, M. Ogundeji2, T. Mokebe3, R. Leger4, J. Ojodu5, V. Odesina6; 1Connecticut State Laboratories, Rocky Hill, CT, 2Primary Health Care and Management Center. Ibadan, Oyo State, Nigeria, 3Orient Sickle Cell Foundation, Awka, Anambra State, Nigeria, 4Salem State University, Salem, MA, 5Association of Public Health Laboratories, Silver Spring, MD, 6Global Sickle Cell Alliance, Inc, New Britain, CT

Presenter: Joseph Ubaike, Connecticut Department of Public Health, Rocky Hill, CT, Voice: 860.920.6615, Email: [email protected]


Poster Abstracts

P-052Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn ScreeningJ. Glascock1, J. Sampson2, A. Haidet-Phillips3, A. Connolly4, B.T. Darras5, J. West6, R. Finkel7, R.R. Howell8, K. Klinger9, N.L. Kuntz10, T. Prior11, P. Shieh12, T.O. Crawford13, D. Kerr14, J. Jarecki1; Cure SMA, Elk Grove Village, IL, 2Stanford University, Stanford, CA, 3Muscular Dystrophy Association, Tucson, AZ, 4Washington University School of Medicine, St. Louis, MO, 5Boston Children’s Hospital, Boston, MA, 6Stanford University Medical Center, Berkeley, CA, 7Nemours Children’s Hospital, Wilmington, DE, 8Miller School of Medicine, University of Miami, Miami, FL, 9Genzyme Corporation, San Diego, CA, 10Ann & Robert H. Lurie Children’s Hospital, Chicago, IL, 11Ohio State Wexner Medical Center, Columbus, OH, 12University of California Los Angeles, Los Angeles, CA, 13Johns Hopkins University School of Medicine, Baltimore, MD, 14Generation Bio, Cambridge, MA

Presenter: Jacqueline Glascock, Cure SMA, Elk Grove Village, IL, Voice: 800.886.1762 x6332, Email: [email protected]

P-053*From Idea to Impact: A Case Study on Making Change through EducationJ. Seisman and N. Bonhomme, Genetic Alliance, Washington, DC

Presenter: Jackie Seisman, MPH, Expecting Health, Genetic Alliance, Washington, DC, Voice: 202.966.5557 x216, Email: [email protected]

P-054It’s Not “the PKU test”: Language Use with Health ProfessionalsA. Evans and N. Bonhomme, Genetic Alliance, Washington, DC

Presenter: Adrianna Evans, Expecting Health, Genetic Alliance, Washington, DC, Voice: 570.337.8022, Email: [email protected]

P-055*Newborn Screening Lab Reports: From Read Out to Communications OpportunityA. Evans and N. Bonhomme, Genetic Alliance, Washington, DC

Presenter: Adrianna Evans, Expecting Health, Genetic Alliance, Washington, DC, Voice: 570.337.8022, Email: [email protected]


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P-056The Incidence of Newborn Bloodspot Screening Disorders in Georgia, 2011-2017A. Sutaria1, M. Lo1, E. Barnes1, J. Barton1, M. Bryan1, E. Paynter1, P. Clark1, E. Osborne1, J. Kerr1, A. Hagar2, C. Drenzek1; 1Georgia Department of Public Health, Atlanta, GA, 2Georgia Public Health Laboratory, Decatur, GA

Presenter: Ankit Sutaria, MBBS, MPH, Georgia Department of Public Health, Atlanta, GA, Voice: 404.232.1693, Email: [email protected]

P-057Implementation of Electronic Test Reporting at a Large Hospital System in GeorgiaA. Hagar1, B. Su2, E. Gonzales Lumiet3, E. Peterson4; 1Georgia Public Health Laboratory, Decatur, GA, 2Association of Public Health Laboratories, Silver Spring, MD, 3Ruvos, Atlanta, GA, 4Piedmont Hospital, Atlanta, GA

Presenter: Arthur Hagar, PhD, HCLD, Georgia Public Health Laboratory, Decatur, GA, Voice: 404.327.6800, Email: [email protected]

P-058Follow-up Testing for Infants with an Abnormal Newborn Screen for Mucopolysaccharidosis Type IIL. Pollard1, B. Burton2, R. Hickey2, L. Hitchins2, S. Braddock3, K. Christensen3, A. Kirby3, T. Wood1; 1Greenwood Genetic Center, Greenwood, SC, 2Ann & Robert H. Lurie Children’s Hospital, Chicago, IL, 3Saint Louis University School of Medicine, St. Louis, MO

Presenter: Laura Pollard, PhD, Greenwood Genetic Center, Greenwood, SC, Voice: 864.388.1070, Email: [email protected]

P-059Using the Agena Bioscience MassARRAY System to Perform Population-based Newborn Screening for Cystic Fibrosis in the State of IllinoisV. Dhiman, J. Price and J. Crew, Illinois Department of Public Health, Chicago, IL

Presenter: Vineet Dhiman, PhD, Illinois Department of Public Health, Chicago, IL, Voice: Email: [email protected]


Poster Abstracts

P-060Stable Isotope Labeled Internal Standards Considerations in Newborn ScreeningD. Platis1, C. Asef2, A. Pickens2, B. Kenwood2, C. Haynes2, K. Petritis2; 1Institute of Child Health, Hellenic Newborn Screening Laboratory, Athens, Greece, 2Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Dimitris Platis, PhD, Institute of Child Health, Hellenic Newborn Screening Laboratory, Athens, Greece, Email: [email protected]

P-061Development of a Universal, Second-tier Newborn Screening LC-MS/MS Method for the Simultaneous Analysis of Underivatized Amino Acids, Acylcarnitines, Organic Acids and SteroidsD. Platis1, C. Asef2, K. Petritis2; 1Institute of Child Health, Hellenic Newborn Screening Laboratory, Athens, Greece, 2Centers for Disease Control and Prevention, Atlanta, GA

Presenter: Dimitris Platis, PhD, Institute of Child Health, Hellenic Newborn Screening Laboratory, Athens, Greece, Email: [email protected]

P-062*Use of a Deliberative Community Engagement Model to Obtain Public Recommendations About Adding New Conditions to Iowa’s Newborn Screening PanelK. Noble Piper, Iowa Department of Public Health, Des Moines, IA

Presenter: Kimberly Noble Piper, Center for Congenital and Inherited Disorders, Iowa Department of Public Health, Des Moines, IA, Voice: 800.383.3826, Email: [email protected]

P-063A Post-analytic Approach to Minimizing the Time Interval from Report of Positive Newborn Screen for Cystic Fibrosis to Initial Encounter for Sweat TestingM. Hobert-Mellecker1, C. Johnson1, E. Phillips1, J. Marcy1, T. Starner2, R. Juska2, L. Ramsey2, A. Abosaida3, A. Scar3, T. Eastvold3, K. Gradoville3, A. Frankl3, S. Marcellus1; 1Iowa Newborn Screening Program, Iowa City, IA, 2University of Iowa Hospitals and Clinics CF Center, Iowa City, IA, 3Blank Children’s Hospital CF Center, Des Moines, IA

Presenter: Melody Hobert-Mellecker, RN, BSN, Iowa Newborn Screening Program, Iowa City, IA, Voice: 319.467.5102, Email: [email protected]


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P-064Quality Assurance of Newborn Screening Form CompletionA. Comer and M. Valbracht, State Hygienic Laboratory at the University of Iowa, Iowa City, IA

Presenter: Ashley Comer, State Hygienic Laboratory at the University of Iowa, Iowa City, IA, Voice: 515.725.1630, Email: [email protected]

P-065ZAP70 Deficiency and Newborn Screening for Severe Combined Immunodeficiency (SCID)D. Bayer1, A. Calhoun1, J. Kotlarek1, P. Ferguson1, C. Johnson1, E. Phillips1, V. Van Zee,2 S. Berberich2, T. Henry2, K. Noble Piper3, M. Fasano4; 1University of Iowa Stead Family Children’s Hospital, Iowa City, IA, 2State Hygienic Laboratory at the University of Iowa, Iowa City, IA,3Iowa Department of Public Health, Des Moines, IA, 4University of Iowa Hospitals and Clinics, Iowa City, IA

Presenter: Mary Fasano, MD, MSPH, University of Iowa Hospitals and Clinics, Iowa City, IA, Voice: 319.356.3692, Email: [email protected]

P-066Promoting Inclusive Educational Efforts: Michigan’s Newborn Screening Conference for MidwivesM. Kleyn, L. Turbett, N. Asher, D. Behringer and J. Moore, Michigan Department of Health and Human Services, Lansing, MI

Presenter: Mary Kleyn, MSc, Michigan Department of Health and Human Services, Lansing, MI, Voice: 517.335.9296, Email: [email protected]

P-067Standardizing Critical Congenital Heart Disease Follow-up: Getting to the Heart of the MatterK. Thompson, K. Andruszewski, E. Withrow and M. Kleyn, Michigan Department of Health and Human Services, Lansing, MI

Presenter: Kristen Thompson, MPH, Michigan Department of Health and Human Services, Lansing, MI, Voice: 517.284.4992, Email: [email protected]


Poster Abstracts

P-068Evaluation of Pulse Oximetry Screening Rates among the Midwife-Attended Out-of-Hospital Birth Community in MichiganE. Withrow, C. Fussman, K. Thompson and M. Kleyn, Michigan Department of Health & Human Services, Lansing, MI

Presenter: Kristen Thompson, MPH, Michigan Department of Health and Human Services, Lansing, MI, Voice: 517.284.4992, Email: [email protected]

P-069*Age at Enrollment in Children’s Special Health Care Services (CSHCS) among Children Diagnosed with a Disorder on the Michigan Newborn Screening (NBS) Blood Spot PanelI. Hurden, S. Mukerjee, M. Kleyn and C. Fussman, Michigan Department of Health and Human Services, Lansing, MI

Presenter: Mary Kleyn, MSc, Michigan Department of Health and Human Services, Lansing, MI, Voice: 517.335.9296, Email: [email protected]

P-070Implementation of an Automated Liquid Handler for Post-Amplification Sample Processing for the Detection of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Variants using the Luminex xTAG® CF60v2 KitR. Shaulis, H. Wood and A. Patel, Michigan Department of Health and Human Services, Lansing, MI

Presenter: Rebecca Shaulis, Michigan Department of Health and Human Services, Lansing, MI, Email: [email protected]

P-071The Data Behind the Decision: Clinical Outcomes for Michigan’s Short-Chain Acyl-CoA Dehydrogenase Deficiency and Isobutryl -CoA Dehydrogenase Deficiency CohortR. Conway1, A. Jay2, L. Evans1, T. Shapllo1, P. Rush1, S. Kaur1, K. Karasinski3; 1Children’s Hospital of Michigan Metabolic Clinic, Detroit, MI, 2Ascension St. John Hospital, Detroit, MI, 3Michigan Department of Health & Human Services, Lansing, MI

Presenter: Robert Conway, Michigan Department of Health and Human Services, Lansing, MI, Voice: 313.993.8685, Email: [email protected]


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P-072Withdrawn

P-073Validation and Implementation of MPS II Newborn Screening in Missouri using a Fluorimetric AssayT. Klug and H. Bilyeu, Missouri State Public Health Laboratory, Jefferson City, MO

Presenter: Tracy Klug, Missouri State Public Health Laboratory, Jefferson City, MO, Voice: 573.751.2662, Email: [email protected]

P-074*Long Term Follow-up with Families that Have a Child with Critical Congenital Heart Disease (CCHD): Findings from Local Public Health (LPH) Nursing AssessmentsH. Pint, S. Henry, N. Brown, B. Frohnert and A. Gaviglio, Minnesota Department of Health, St. Paul, MN

Presenter: Heather Pint, RN, PHN, Minnesota Department of Health, St. Paul, MN, Voice: 651.201.3638, Email: [email protected]

P-075Helping Minnesota Hospitals Improve Quality through Site VisitsJ. Simonetti, A. Gaviglio, H. Brand, A. Dahle and M. McCann, Minnesota Department of Health, St. Paul, MN

Presenter: Jill Simonetti, Minnesota Department of Health, St. Paul, MN, Voice: 651.201.5469, Email: [email protected]

P-076*Improvements in Pre- and Post-Analytical Efficiencies - What Does Operations Mean for Newborn Screening?J. Simonetti, H. Brand and M. McCann, Minnesota Department of Health, St. Paul, MN

Presenter: Jill Simonetti, Minnesota Department of Health, St. Paul, MN, Voice: 651.201.5469, Email: [email protected]


Poster Abstracts

P-077CYP21A2 Variant Panel as a 2nd Tier for CAH Newborn Screening Challenges for Nationwide Implementation Based on the Minnesota ExperienceB. Warman1, G. Radloff1, E. Morrison1, C. Wolf1, A. Gaviglio1, A. Hietala1, M. McCann1, C. Greene2, S. Cordovado2, C.P. Lorentz3, K. Sarafoglou3; 1Minnesota Department of Health, St. Paul, MN, 2Centers for Disease Control and Prevention, Atlanta, GA, 2University of Minnesota, Minneapolis, MN

Presenter: Carrie Wolf, MBS, Newborn Screening Laboratory, Minnesota Department of Health, St. Paul, MN, Voice: 651.201.5458, Email: [email protected]

P-078Incorporating Race/Ethnic-specific Physiological Variation into Newborn Screening Algorithms: The Case of Total GalactoseA. Gaviglio, G. Frogner, C. Wolf, A. Hietala and M. McCann, Minnesota Department of Health, St. Paul, MN

Presenter: Amy Gaviglio, MS, CGC, Minnesota Department of Health, St. Paul, MN, Voice: 651.201.5451, Email: [email protected]

P-079QI Project Update: Improving Communication of Normal Newborn Blood Spot ResultsW. Thompson1, A. Gavilio2, S. Berry1; 1University of Minnesota, Minneapolis, MN, 2Minnesota Department of Health, St. Paul, MN

Presenter: Whitney Thompson, University of Minnesota Medical School, Minneapolis, MN, Email: [email protected]

P-080Primary Care Physicians’ Perspectives on Positive Newborn Screens for Cystic Fibrosis: A Statewide SurveyJ. Tarnowski1, P. Modaff2, C. Reiser2, M. Baker3; 1Mayo Clinic, Rochester, MN, 2University of Wisconsin, Madison, Madison, WI, 3Wisconsin State Laboratory of Hygiene, Madison, WI

Presenter: Jessica Tarnowski, Mayo Clinic, Rochester, MN, Email: [email protected]


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P-081Quantification of 11 Enzyme Activities of Lysosomal Storage Disorders using LC-MSR. Mashima, M. Ohira and T. Okuyama, National Center for Child Health and Development, Tokyo, Japan

Presenter: Ryuichi Mashima, PhD, National Center for Child Health and Development, Tokyo, Japan, Voice: +81.3.3416.0181 x2607, Email: [email protected]

P-082North Carolina Cystic Fibrosis Newborn Screening Genotype SpectrumE. Stevens, C. Leslie, M. Parker, Y. Ryan, G. Vikery, L. Percenti, G. Retsch-Bogart, D. Pettit, S. Zimmerman and S. Beckloff, North Carolina Laboratory of Public Health, Raleigh, NC

Presenter: E. Stevens, North Carolina Laboratory of Public Health, Raleigh, NC, Voice: Email: [email protected]

P-083Improving Monitoring for Newborn Screening Quality Assurance in NebraskaS. Seberger, Nebraska Department of Health and Human Services, Lincoln, NE

Presenter: Sarah Seberger, Nebraska Department of Health and Human Services, Lincoln, NE, Voice: 402.471.6759, Email: [email protected]

P-084*The BabySeq Project: Genomic Findings and Preliminary Survey and Economic ResultsR. Parad1, C. Genetti2, H. Rehm1, P. Agrawal2, I. Holm2, O.C. Birsoy3, T. Yu2, A. McGuire4, S. Pereira4, K. Christensen1, D. Dukhovny5, A. Beggs2, R. Green1; 1Brigham and Women’s Hospital, Boston, MA, 2Boston Children’s Hospital, Boston, MA, 3Memorial Sloan Kettering Cancer Center, New York, NY, 4Baylor College of Medicine, Waco, TX, 5Oregon Health and Science University, Portland, OR

Presenter: Richard Parad, MD, MPH, Brigham and Women’s Hospital, Boston, MA, Voice: 617.732.7371, Email: [email protected]


Poster Abstracts

P-085Algorithms, Assessments, Anxieties and Adaptations: Massachusetts Experience with SMA ScreeningA. Comeau, New England Newborn Screening Program/University of Massachusetts Medical School, Worcester, MA

Presenter: Anne Comeau, PhD, New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA, Voice: 774.455.3606, Email: [email protected]

P-086Withdrawn

P-087AVA – Automated Variant Annotation FrameworkM. Vangala1, K. Pelletier1, J. Hale2, B. Kumar2, J. Mathew1, A. Comeau2; 1Data Sciences & Technology, 2New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA

Presenter: Mahesh Vangala, Data Sciences & Technology, University of Massachusetts Medical School, Worcester, MA, Email: [email protected]

P-088Variant Interpretation at the Program Level: A Can-do Review and Some UpdatesJ. Hale1, B. Kumar1, I. Sahai1, M. Vangala2, K. Pelletier2, J. Mathew2, A. Comeau; 1New England Newborn Screening Program, 2Data Sciences & Technology, University of Massachusetts Medical School, Worcester, MA

Presenter: Anne Comeau, PhD, New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA, Voice: 774.455.3606, Email: [email protected]


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P-089Evaluation, Optimization and Validation of Real-Time™ Assays for High-Throughput Newborn Screening for Spinal Muscular AtrophyL. Ji, J. Navas, S. Barton, J. Kordowska, J. Gersel-Thompson, J. Hale and A. Comeau, New England Newborn Screening Program/University of Massachusetts Medical School, Worcester, MA

Presenter: Lan Ji, New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA, Email: [email protected]

P-090Development of Streamlined Workflow of DNA Sequencing for Newborn Screening for Lysosomal Storage Disorders and X-linked-AdrenoleukodystrophyB. Kumar, S. Baarton, L. Ji and A. Comeau, New England Newborn Screening Program/University of Massachusetts Medical School, Worcester, MA

Presenter: Binod Kumar, New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA, Email: [email protected]

P-091Withdrawn

P-092*Hitting the “Ct”-Spot: A Three-Year Retrospective Analysis of SCID Screening using Ct Values in New JerseyM. Schachter1, S. Scott2, S. Karabin1, D. Arnold3, J. Heimall4; 1New Jersey Department of Health, Ewing, NJ, 2RTI International, Research Triangle Park, NC, 3The Children’s Hospital of Philadelphia, Philadelphia, PA, 4Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA

Presenter: Miriam Schachter, PhD, New Jersey Department of Health, Ewing, NJ, Voice: 609.406.6892, Email: [email protected]


Poster Abstracts

P-093A Two-Step Approach to Improving Newborn Screening for Cystic Fibrosis in New JerseyM. Schachter, C. Vail, E. Leachko, J. Chapin and M. Carayannopoulos, New Jersey Department of Health, Ewing, NJ

Presenter: Miriam Schachter, PhD, New Jersey Department of Health, Ewing, NJ, Voice: 609.406.6892, Email: [email protected]

P-094Results of Blinded Pilot Study for Lysosomal Storage Disorder Screening in New JerseyS. Eroh, M. Acconzo, M. Schachter, C. Vail, S. O’Leary and M. Carayannopoulos, New Jersey Department of Health, Ewing, NJ

Presenter: Mary Carayannopoulos, PhD, New Jersey Newborn Screening Program, New Jersey Department of Health, Ewing, NJ, Voice: 314.623.5493, Email: [email protected]

P-095*Use of LEAN Principles to Address Data Entry Delays and their Impact on Achieving Timely Reporting of ResultsB. Vogel, M. Martin, A. Showers, K. Benninger, C. Johnson, J. Orsini and M. Caggana, Wadsworth Center, New York State Department of Health, Albany, NY

Presenter: Beth Vogel, MS, CGC, Newborn Screening Program, Wadsworth Center, New York State Dept of Health, Voice: 518.474.7945, Email: [email protected]

P-096Developing a New Process for Handling Special Health ConcernsS. Bradley, M. Morrissey, T. Weinberg, D. Render, R. Bennett, N. Tavakoli and M. Caggana, Wadsworth Center, New York State Dept of Health, Albany, NY

Presenter: Sarah Bradley, MS, CGC, Newborn Screening Program, Wadsworth Center, New York State Dept of Health, Voice: 518.408.1302, Email: [email protected]


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P-097The Impact of Seasonal Changes on Thyroxine and Thyroid Stimulating Hormone in Newborns in NYSR. McMahon1, L. DeMartino1, D. Powers2, M. Tracy3, M. Caggana1, N. Tavakoli1; 1Wadsworth Center, New York State Department of Health, Albany, NY, 2University of Nevada, Reno, NV, 3University at Albany School of Public Health, Albany, NY

Presenter: Norma Tavakoli, PhD, Newborn Screening Program, Wadsworth Center, New York State Dept of Health, Voice: 518.486.2569, Email: [email protected]

P-098Moving Data Using Flash Drives? Beware of MalwareC. Johnson, M. Caggana, J. Orsini and B. Vogel, New York State Newborn Screening Program, Wadsworth Center, New York State Dept of Health, Albany, NY

Presenter: Christopher Johnson, Newborn Screening Program, Wadsworth Center, New York State Dept of Health, Email: [email protected]

P-099Ontario’s Evaluative Framework for a Phased Approach to Cytomegalovirus Newborn ScreeningK. Tam1, K. Denize1, B. Potter2, R. Hayeems3, J. Brophy1, P. Chakraborty1; 1Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, 2University of Ottawa, Ottawa, ON, Canada, 3The Hospital for Sick Children, Toronto, ON, Canada

Presenter: Karen Tam, Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, Email: [email protected]

P-100Ontario’s Clinical Care Implementation for Targeted Cytomegalovirus Newborn ScreeningJ. Marcadier1, K. Tam1, L. Gallagher1, C. O’Sullivan1, M. Hebert1, L. Tanaka2, S. Cushing3, V. Papaioannou3, M. Pigeon1, J. MacCormick1, A. Bitnun3, J. Brophy1, J. Dunn1, M. Bagatto4, P. Chakroborty1; 1Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, 2Ministry of Children, Community and Social Services, Toronto, ON, Canada, 3The Hospital for Sick Children, Toronto, ON, Canada, 4National Centre for Audiology, Western University, London, ON, Canada

Presenter: Janet Marcadier, MSc, CGC, CCGC, Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, Voice: 613.799.1793, Email: [email protected]


Poster Abstracts

P-101Collection and Quality Assurance of Critical Congenital Heart Disease Screening Results in OntarioC. O’Sullivan1, R. Kirkwood1, J. Marcadier1, E. Morphy1, J. Bottomley1, J. Lougheed1, A. Latchman2,3, E. Bariciak1, M. Geraghty1, E. Darling2, A. Hudak4, J. Russell5, L. Mertens5, J. Milburn1, M. Henderson1, P. Chakraborty1; 1Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, 2McMaster Children’s Hospital, Hamilton, ON, Canada, 3St. Joseph’s Health Centre, Toronto, ON, Canada, 4Orillia Soldier’s Memorial Hospital, Orillia, ON, Canada, 5The Hospital for Sick Children, Toronto, ON, Canada

Presenter: Chloe O’Sullivan, Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, Email: [email protected]

P-102*Collection of Dried Blood Spot Samples on Recently Printed Filter Paper Cards Inhibits Biotinidase ActivityM. Henderson, A. Chambers and P. Chakraborty, Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

Presenter: Matthew Henderson, PhD, Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, Voice: 613.737.7600 x 3557, Email: [email protected]

P-103Development and Integration of a Punching Module in OMNI-Lab Software for Newborn ScreeningS. McClelland1, P. Long2, T. Strong2, A. Anderson2, M. Sayer1, M. Elliott1, J. Milburn1, P. Chakroborty1; 1Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, 2Integrated Software Solutions, Sydney, NSW, Australia

Presenter: Shannon McClelland, Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, Email: [email protected]

P-104Implementing a Newborn Screening Information Management System - Lessons from a Full Program RebuildM. Pluscauskas, M. Henderson and P. Chakraborty, Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

Presenter: Michael Pluscaukas, Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, Voice: 613.737.7600 x3301, Email: [email protected]


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P-105Utilizing an Integrated Data System for Newborn Screening Follow-upK. Holland, Pennsylvania Department of Health, Harrisburg, PA

Presenter: Kelly Holland, Pennsylvania Department of Health, Harrisburg, PA, Voice: 717.783.8143, Email: [email protected]

P-106The Duchenne Newborn Screening Consortium: Accelerating the Path to Nationwide Newborn ScreeningM. Lloyd-Puryear1, A. Brower2, M. Caggana3, N. Tavakoli3, M. Watson2, A. Kennedy1; 1Parent Project Muscular Dystrophy, Hackensack, NJ, 2American College of Medical Genetics and Genomics, Bethesda, MD, 3Wadsworth Center, New York State Department of Health, Albany, NY

Presenter: Michele Lloyd-Puryear, MD, PhD, Parent Project Muscular Dystrophy, Hackensack, NJ, Voice: 301.775.5386, Email: [email protected]

P-107Orotic Aciduria Identification as By-product of Detection of Abnormal Citrulline Levels in Newborn ScreeningL. Resto, M. del C.G and S. Rivera, University of Puerto Rico, San Juan, PR

Presenter: Ledith Resto, Puerto Rico Newborn Screening Program, University of Puerto Rico, San Juan, PR, Voice: 787.214.2449, Email: [email protected]

P-108SCID Compass: Improving Education and Newborn Screening for Severe Combined ImmunodeficiencyM. Raspa1, T. Caulder2, S. Singh3, S. Shone1, R. Sheller3, A. Hutton2, J. Ojodu3, D. Bailey1, J. Boyle2; 1RTI International, Research Triangle Park, NC, 2Immune Deficiency Foundation, Towson, MD, 3Association of Public Health Laboratories, Silver Spring, MD

Presenter: Melissa Raspa, RTI International, Research Triangle Park, NC, Email: [email protected]


Poster Abstracts

P-109*Potential Use of Unmanned Aerial Systems to Transport Newborn Screening SpecimensS. Shone1, J. Miller2, M. Sontag2; 1RTI International, Research Triangle Park, NC, 2Center for Public Health Innovation, CI International, Littleton, CO

Presenter: Scott Shone, PhD, HCLD(ABB), RTI International, Research Triangle Park, NC, Voice: 919.485.5512, Email: [email protected]

P-110Using the Florida-specific New Disorder Review Framework to Assess New ConditionsS. Shone1, D. Edwards2, E. Reeves2, J. Brosco2, C.G. Pasley2, A. Wylie1, M. Raspa1, D. Bailey1; 1RTI International, Research Triangle Park, NC, 2Florida Department of Health, Tallahassee, FL

Presenter: Scott Shone, PhD, HCLD(ABB), RTI International, Research Triangle Park, NC, Voice: 919.485.5512, Email: [email protected]

P-111Voluntary Screening for Spinal Muscular Atrophy in the State of North Carolina through the Early Check ProgramJ. Taylor1, S. Lee1, S. Shone1, A. Wheeler1, C. Okoniewski1, L. Gehtland1, H. Peay1, M. Lewis1, M. Raspa1, C. Powell2, K. Clinard2, S. Zimmerman3, S. Beckloff3, D. Bailey1; RTI International, Research Triangle Park, NC, 2University of North Carolina at Chapel Hill, Chapel Hill, NC, 3North Carolina State Laboratory of Public Health, Raleigh, NC

Presenter: Jennifer Taylor, PhD, RTI International, Research Triangle Park, NC, Voice: 919.541.6243, Email: [email protected]

P-112*The North Carolina X-linked Adrenoleukodystrophy Pilot Study: Challenges and Lessons LearnedJ. Taylor1, S. Lee,1 S. Shone1, L. Gehtland1, J. Muenzer2, C. Powell2, K. Clinard2, C. Rehder3, S. Young3, D. Bali3, D. Millington3, S. Zimmerman4, S. Beckloff4, D. Bailey1; 1RTI International, Research Triangle Park, NC, 2University of North Carolina at Chapel Hill, Chapel Hill, NC, 3Duke University, Durham, NC, 4North Carolina State Laboratory of Public Health, Raleigh, NC

Presenter: Jennifer Taylor, PhD, RTI International, Research Triangle Park, NC, Voice: 919.541.6243, Email: [email protected]


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P-113Validation and Population Screening using a Custom FMR1 PCR Assay System in the Early Check ProgramS. Lee1, J. Taylor1, C. Redmond2, B. Printy2, S. Shone1, G. Latham2, D. Bailey1; 1RTI International, Research Triangle Park, NC, 2Asuragen, Austin, TX

Presenter: Stacy Lee, RTI International, Research Triangle Park, NC, Email: [email protected]

P-114Assessment of Timeliness Activities during the NewSTEPs 360 ProjectG. Gassaway, H. Fryman, G. Dizikes, M.C. Dorley, A. Ingram, Y. Li and A. Porter, Tennessee Department of Health, Nashville, TN

Presenter: Gabriell Gassaway, MPH, Tennessee Department of Health, Nashville, TN, Voice: 615.262.6308, Email: [email protected]

P-115Tennessee’s Experiences Performing Newborn Screening for Five Lysosomal DisordersM.C. Dorley, A. Ingram, C. Lowe, G. McKee, A. Porter, L. Prowell and G. Dizikes, Tennessee Department of Health, Nashville, TN

Presenter: George Dizikes, PhD, HCLD/CC(ABB), Tennessee Department of Health, Knoxville, TN, Voice: 865.549.5217, Email: [email protected]

P-116*Peer Network Resource Center and Proficiency Sample Exchange Highlight Programmatic DifferencesM.C. Dorley1, P. Hopkins2, T. Klug2, G. McKee1 and L. Prowell1; 1Tennessee Department of Health, Nashville, TN, 2Missouri State Public Health Laboratory, Jefferson City, MO

Presenter: M. Christine Dorley, MSP, MT(ASCP), Tennessee Department of Health, Nashville, TN, Voice: 615.262.6352, Email: [email protected]


Poster Abstracts

P-117Biotinidase Positive Case Prompts Cutoff Evaluation for Two StatesM.C. Dorley1, O. Adair2, T. Childs1, R.B. Dixon2, S. Hall2, V. Ragland1, K. Richards1; 1Tennessee Department of Health, Nashville, TN, 2South Carolina Department of Health & Environmental Control, Columbia, SC

Presenter: M. Christine Dorley, MSP, MT(ASCP), Tennessee Department of Health, Nashville, TN, Voice: 615.262.6352, Email: [email protected]

P-118*Faster, Better, AND Cheaper Severe Combined Immunodeficiency Screening of Newborn Specimens in TexasM. Nolen, L. Corrigan, D. Luna and R. Lee, Texas Department of State Health Services, Austin, TX

Presenter: Maria Nolen, Texas Department of State Health Services, Austin, TX, Voice: 512.776.2414, Email: [email protected]

P-119*11 Year look at CAH Screening in TexasK. Hess, K. Wolf, M. Shaffer and C. Icaro, Texas Department of State Health Services, Austin, TX

Presenter: Karen Hess, Texas Department of State Health Services, Austin, TX, Voice: 512.776.3376, Email: [email protected]

P-120Withdrawn

P-121*Decreased Concentration of Isovaleryl-Carnitine in Patients with Maple Syrup Urine Disease (MSUD)R. Fingerhut1, I. Knerr,2 A. Monavan2, I. Borovickova2, W. Roschinger3; 1University Children’s Hospital Zurich, Zurich, Switzerland, 2NCIMD, TSCU, Dublin, Ireland, 3Laboratory Becker & Colleagues

Presenter: Ralph Fingerhut, PhD, Swiss Newborn Screening Laboratory, University Children’s Hospital, Zurich, Switzerland, Voice: +41.44.266.7732, Email: [email protected]


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P-122Highly Specific Amino Acid and Acylcarnitine Profile in Dried Blood Spots of Patients with Adenosine Kinase DeficiencyR. Fingerhut, University Children’s Hospital Zurich, Zurich, Switzerland

Presenter: Ralph Fingerhut, PhD, Swiss Newborn Screening Laboratory, University Children’s Hospital, Zurich, Switzerland, Voice: +41.44.266.7732, Email: [email protected]

P-123Premature Infants have Higher Dried Blood Concentrations of (iso) ValerylcarnitineS. Murko, B. Finckh, R. Santer and Z. Lukacs, Hamburg University Medical Center, Hamburg, Germany

Presenter: Simona Murko, Hamburg University Medical Center, Hamburg, Germany, Email: [email protected]

P-124Targeted Second-Tier Confirmatory Next Generation Sequencing Newborn Screening PipelineN. Ruiz-Schultz1, K. Oakson2, D. Jones1, M. Rindler1, K. Hart1, A. Rohrwasser1; 1Utah Newborn Screening Program, Taylorsville, UT, 2Utah Public Health Laboratory, Taylorsville, UT

Presenter: Nicole Ruiz-Schultz, Newborn Screening Program, Utah Public Health Laboratory, Taylorsville, UT, Email: [email protected]

P-125A Complete Newborn Screening Patient Record: Utah’s IT Infrastructure and Health Information ExchangeD. Jones1, K. Hart1, R. Atkinson-Dunn2, A. Rohrwasser1; 1Utah Newborn Screening Program, Taylorsville, UT, 2Utah Public Health Laboratory, Taylorsville, UT

Presenter: David Jones, PhD, Newborn Screening Program, Utah Public Health Laboratory, Taylorsville, UT, Voice: 801.965.2400, Email: [email protected]

P-126Withdrawn


Poster Abstracts

P-127*Timeliness and the Victorian Newborn Screening Program: A 7 Year ReviewS. Morrissy, Victorian Clinical Genetics Service, Parkville, Victoria, Australia

Presenter: Sally Morrissy, Victorian Clinical Genetics Service, Parkville, Victoria, Australia, Voice: +61.0.4024.67362, Email: [email protected]

P-128Utilization of Bioinformatics Resources to Improve the Timeliness of Variant Interpretation for Lysosomal Storage Disorders in VirginiaG. Cote, R. Haughton, E. Hopkins and W. Andrews, Virginia Division of Consolidated Laboratory Services, Richmond, VA

Presenter: Gretchen Cote, MS, Virginia Division of Consolidated Laboratory Services, Richmond, VA, Voice: 804.648.4480 x388, Email: [email protected]

P-129*From Brochure to Booklet: Redesigning the Parent Guide to Newborn Screening in Washington StateG. Gupta, H. Lovejoy, A. Ragsdale and J. Thompson, Washington State Public Health Laboratories, Shoreline, WA

Presenter: Gauri Gupta, MScPH, Washington State Public Health Laboratories, Shoreline, WA, Voice: 206.418.5508, Email: [email protected]

P-130Clinical Utility of an Expanded Next Generation Sequencing Panel and Next Generation Sequencing Data Reanalysis in Newborn Screening for Cystic FibrosisS. Mochal1,2, B. Zeitler1,2, M. Baker1; 1Wisconsin State Laboratory of Hygiene, Madison, WI, 2University of Wisconsin School of Medicine and Public Health, Madison, WI

Presenter: Sean Mochal, Wisconsin State Laboratory of Hygiene/University of Wisconsin School of Medicine and Public Health, Madison, WI, Voice: 608.890.1011, Email [email protected]


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P-131*Validation of a Multiplexed Real-time PCR Assay to Detect SCID and SMN1 Homozygous Exon 7 Deletion and Droplet Digital PCR Assay to Assess SMN2 Copy Numbers in Newborn Screening for Spinal Muscular AtrophyM. Baker1, S. Mochal1, M. Loehe1, B. Zeitler1, J. Chen2, R. Zhang2, A. Johnstone2, P. Nwe2, K. Swobada2; 1Wisconsin State Laboratory of Hygiene/University of Wisconsin School of Medicine and Public Health, Madison, WI, 2Massachusetts General Hospital, Boston, MA

Presenter: Mei Baker, MD, Wisconsin State Laboratory of Hygiene/University of Wisconsin School of Medicine and Public Health, Madison, WI, Voice: 608.890.1796, Email: [email protected]

P-132Establishment of Risk Assessment Threshold in Newborn Screening for Pompe Disease: Wisconsin Pilot Project ExperienceM. Baker1.2, T. Teber1,2, S. Mochal1,2, T. Stengl1,2, R. Steiner2, W. Rhead3, G. Rice2; 1Wisconsin State Laboratory of Hygiene, Madison, WI, 2University of Wisconsin School of Medicine and Public Health, Madison, WI, 3Medical College of Wisconsin, Milwaukee, WI


P-133Improve Pompe Screening Assay Turnaround Time by Reducing Enzyme Incubation TimeM. Baker, T. Stengl and T. Teber, Wisconsin State Laboratory of Hygiene/University of Wisconsin School of Medicine and Public Health, Madison, WI


P-134Withdrawn


Poster Abstracts

P-135Wisconsin’s Algorithm for Detecting Congenital Adrenal Hyperplasia—Incorporation of a Second Tier TestE. Bialk, M. Horne, M. Berry, J. Brower and P. Held, Wisconsin State Laboratory of Hygiene, Madison, WI

Presenter: Patrice Held, PhD, Wisconsin State Laboratory of Hygiene, Madison, WI, Voice: 608.265.5968, Email: [email protected]

P-136Wisconsin’s Approach to Addressing Timely Specimen Re-collection after Unsatisfactory Specimen SubmissionS. Dawe, C. Evans, C. Lanham, M. Anderson and P. Held, Wisconsin State Laboratory of Hygiene, Madison, WI

Presenter: Patrice Held, PhD, Wisconsin State Laboratory of Hygiene, Madison, WI, Voice: 608.265.5968, Email: [email protected]

P-137*Combining Newborn Metabolic and DNA Analysis for Second-tier Testing of Methylmalonic AcademiaC. Scharfe1, G. Peng1, N. Gandotra1, G. Enns2, T. Cowan2, H. Zhao1; 1Yale School of Medicine, New Haven, CT, 2Stanford University School of Medicine, Stanford, CA

Presenter: Curt Scharfe, Yale School of Medicine, New Haven, CT, Email: [email protected]

P-138Development of an Automated Newborn Screening Assay for IRT: Semi-plexed with TSH and 17-OHP AssaysP. Gunderson, J. Reynolds, J. Adams and M. Venn, Astoria-Pacific Inc., Clackamas, OR

Presenter: Paige Gunderson, Astoria-Pacific Inc., Clackamas, OR, Voice: 800.536.3111 x350, Email: [email protected]


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P-139Beyond Enzyme Assays: The Versatility of Digital Microfluidics for Screening and Clinical Testing in NewbornsC. Brannen, R. Singh, S. Norton and V. Pamula, Baebies, Inc., Durham, NC

Presenter: Candice Brannen, PhD, Baebies, Inc., Durham, NC, Voice: 919.891.0432, Email: [email protected]

P-140Combining Creatine Kinase Activity and Isoenzyme Measurements for Newborn Duchenne Muscular Dystrophy Screening on the Digital Microfluidic PlatformC. Graham, K. Kay, R. Singh, A. Battacherjee and V. Pamula, Baebies, Inc., Durham, NC

Presenter: Vamsee Pamula, PhD, Baebies, Inc., Durham, NC, Voice: 919.891.0432, Email: [email protected]

P-141A Digital Microfluidic Nucleic Acid Test for Congenital Cytomegalovirus Infection in NewbornsL. Nelson1, S. Pati2, S. Boppana2, V. Pamula1; 1Baebies, Inc., Durham, NC, 2University of Alabama, Birmingham, Birmingham, AL

Presenter: Vamsee Pamula, PhD, Baebies, Inc., Durham, NC, Voice: 919.891.0432, Email: [email protected]

P-142Early Initiation of Nusinersen Treatment on Motor Milestone and Motor Function Response in Symptomatic Infantile-onset SMA and in Infants in a Presymptomatic Stage of SMAN.L. Kuntz1, D.C. De Vivo2, K. Swoboda3, B.T. Darras4, E. Bertini5, W.-L. Hw6, R. Butterfield7, T. Crawford8, R. Foster9, I. Bhan9, S. Fradette9, W. Farwell9, S. Reyna9; 1Ann & Robert H. Lurie Children’s Hospital, Chicago, IL, 2Columbia University Irving Medical Center, New York, NY, 3Massachusetts General Hospital, Boston, MA, 4Boston Children’s Hospital, Boston, MA, 5Bambino Gesù Children’s Research Hospital, Rome, Italy, 6National Taiwan University Hospital, Taipei City, Taiwan, 7University of Utah, Salt Lake City, UT, 8Johns Hopkins University School of Medicine, Baltimore, MD, 9Biogen, Cambridge, MA

Presenter: Nancy Kuntz, MD, Ann & Robert H. Lurie Children’s Hospital, Chicago, IL, Email: [email protected]


Poster Abstracts

P-143Newborn Screening for Six Lysosomal Storage Diseases in a Cohort of Mexican Patients: Six-year Findings from a Screening Program with a National CoverageH. Cruz-Camino, C. Cantu-Reyna and R. Gomez-Gutierrez, Genomi-k, Monterrey, Nuevo León, Mexico

Presenter: Hector Cruz-Camino, Genomi-k, Monterrey, Nuevo León, Mexico, Voice: +52.81.1522.5803 x1106, Email: [email protected]

P-144Tier 1 Screening for Enzyme Deficiencies Associated with GAMT (guanidinoacetate methyltransferase) using Flow-injection MS/MSN. Kleise, C. Hill, T. Au Yeung and J. Trometer, PerkinElmer, Waltham, MA

Presenter: Collin Hill, PerkinElmer, Waltham, MA, Email: [email protected]

P-145Tier 1 and Tier 2 Mass Spectrometry Methodologies for Determining Enzymatic Defects Associated with Pompe DiseaseT. Au Yeung, C. Hill, J. Trometer, M. Timmons and B. Williamson, PerkinElmer, Waltham, MA


P-146Automation of Tier 2 Newborn Screening from Positive Tier 1 Results using the PerkinElmer QSight® 225 MDC. Hill, R. Maharajh, S. Smith, T. Au Yeung and B. Williamson, PerkinElmer, Waltham, MA


P-147A Six-plex Assay for Lysosomal Storage Disorders using the PerkinElmer NeoLSD Kit Coupled with a QSight® 210 MD Mass SpectrometerM. Timmons, C. Hill, T. Au Yeung, J. Trometer and B. Williamson, PerkinElmer, Waltham, MA



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P-148MigeleTM Gel Electrophoresis Unit for Hemoglobinopathies DetectionH. Appelblom, A. Koivu, K. Juvakka, H.M. Raussi, H. Luoto-Helminen and F. Meindl, PerkinElmer,

Presenter: Heidi Luoto-Helminen, PerkinElmer, Email: [email protected]

P-149Sequential Elution: Demonstration of a Novel, Multi-Sampling Method for Dried Blood SpotsS. Dallaire, C. Gutierrez-Mateo, J. Trometer, R. Wu, PerkinElmer, Waltham, MA

Presenter: Stephanie Dallaire, PerkinElmer, Waltham, MA, Voice: 781.663.5584, Email: [email protected]

P-150A High-throughput Multiplex qPCR Screening Assay For SCID, SMA, and XLA in NewbornsJ. Richards, D. Goldfarb, C. Gutierrez-Mateo, G. Filippov, S. Dallaire, R. Beighley, R. Wu and D. Schoener, PerkinElmer, Waltham, MA

Presenter: David Goldfarb, PerkinElmer, Voice: 781.663.5552, Email: [email protected]

P-151Screening of Inborn Genetic Disorders X-ALD, ADA-SCID, ASA-LD and OTCD with Specific New Analytes Included in the NeoBase™ 2 Non-derivatized MSMS KitH. Appelblom1, J-M. Brozinski1, M. McKinlay1, M.C. Dorley2, L. Prowell2, C. Biggs3, S. Willis3, T. Polonen1, A. Koivu1, K. Vaahtera1, H. Lindroos1, T. Lehtonen1; 1PerkinElmer, Turku, Finland, 2Tennessee Department of Health, Nashville, TN, 3Oregon State Public Health Laboratory, Hillsboro, OR

Presenter: Heidi Appelblom, PerkinElmer, Turku, Finland, Voice: 358.2.2678.184, Email: [email protected]


Poster Abstracts

P-152Clinical Performance Evaluation of the NeoLSD™ MSMS Kit for Lysosomal Storage Disorder (LSD) Newborn ScreeningH. Lindroos1, K. Vaahtera1, A. Cohen2, M. Thorbek2, A. Lund3, J. Kantola1, P. Mattson1, A. Meierjohan1, D. Hougaard2; 1PerkinElmer, Turku, Finland, 2Statens Serum Institut, Stockholm, Sweden, 3Copenhagen University Hospital, Copenhagen, Denmark

Presenter: Hanne Lindroos, PerkinElmer, Email: [email protected]

P-153Seven-plex MS/MS Method to Measure I2S, NAGLU, GALNS, GLB1, ARSB, GUSB, and TPP1 Enzyme Activities in DBS on a PE QSight® 220 CRJ. Trometer, C. Hill, M. Timmons, T. Au Yeung and B. Williamson, PerkinElmer, Waltham, MA

Presenter: Joe Trometer, PerkinElmer, Waltham, MA, Voice: 781.663.5509, Email: [email protected]

P-154Hemoglobinopathies Detection with the MigeleTM Gel Electrophoresis Unit in NevadaJ. Torres1, H. Luoto-Helminen2, F. Meindl2; 1Nevada State Newborn Screening Laboratory, Carson City, NV, 2PerkinElmer, Turku, Finland

Presenter: Heidi Luoto-Helminen, PerkinElmer, Turku, Finland, Email: [email protected]

P-155A Two-Tiered Approach for Newborn Screening of X-Linked AdrenoleukodystrophyS. Smith, J. DiPerna, H. Cicco and L. Anderson-Lehman, PerkinElmer Genomics

Presenter: Sara Smith, PhD, PerkinElmer Genomics, Pittsburgh, PA, Voice: 412.220.2300 x2064907, Email: [email protected]


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P-156Clinical Performance Evaluation of the GSP® Neonatal Creatine Kinase – MM Kit for Duchenne Muscular Dystrophy (DMD) Newborn Screening in the USL. Vershave1, M. Baker2, V. Laitala1, L. Merio1, H. Polari1, M. Puryear3, A. Kennedy3, J. Strober4, C. McDonald5, E. Henricson5, J. West6, E.D. Douine7, S.F. Nelson7, T. Korpimaki1; 1PerkinElmer Inc., Turku, Finland, 2Wisconsin State Laboratory of Hygiene, Madison, WI, 3Parent Project Muscular Dystrophy, Hackensack, NJ, 4UCSF Benioff Children’s Hospital, San Francisco, CA, 5UC Davis, Davis, CA, 6Stanford University Medical Center, Stanford, CA, 7University of California at Los Angeles, Los Angeles, CA

Presenter: Hanna Polari, PerkinElmer, Turku, Finland, Email: [email protected]

P-157Improved GSP® Neonatal GALT Kit PerformanceJ. Huhtala, L. Vershave, H. Polari, T. Polonen, E. Jarvi, L. Merio, J. Karunen and T. Korpimaki, PerkinElmer Inc., Turku, Finland

Presenter: Hanna Polari, PerkinElmer, Turku, Finland, Email: [email protected]

P-158Screening Performance of the NeoLSD(TM) MSMS Kit on the PerkinElmer QSight(TM) 210 MD Screening SystemB. Williamson1, M. Timmons1, B. Taffe2, M. McKinlay1, T. Polonen1, A. Koivu1, K. Vaahtera1; 1PerkinElmer, Waltham, MA and Turku, Finland, 2Florida Department of Health Newborn Screening Laboratory, Jacksonville, FL

Presenter: Margo McKinlay, PerkinElmer, Waltham, MA, Email: [email protected]

P-159Update on the State of Newborn Screening for Hereditary Tyrosinemia Type 1 (HT-1) in the United StatesS. Crowley and C. Satler, Sobi, Inc.

Presenter: Suzanne Crowley, Sobi, Inc., Waltham, MA, Email: [email protected]


Poster Abstracts

P-160Development of a Simple and Low Cost Workflow for Simultaneous Screening for SCID and SMA From a Single Dried Blood Spot PunchJ. Wang, C. Davidson and M. Payne, Thermo Fisher Scientific, Santa Clara, CA

Presenter: Jonathan Wang, PhD, Thermo Fisher Scientific, Santa Clara, CA, Voice: 650.246.5296, Email: [email protected]

P-161A Simplified, Rapid Approach to Targeted Resequencing of Dried Blood Spot Samples for Newborn Screening ResearchD. Mandelman, A. Harris and S. Roman, Thermo Fisher Scientific, Carlsbad, CA

Presenter: David Mandelman, Thermo Fisher Scientific, Carlsbad, CA, Voice: 760.476.7052, Email: [email protected]

P-162A Rapid Multi-plex MS/MS Assay for LSDJ. Trometer, C. Hill, M. Timmons, T. Au Yeung and B. Williamson, PerkinElmer, Waltham, MA

Presenter: Joe Trometer, PerkinElmer, Waltham, MA, Voice: 781.663.5509, Email: [email protected]

P-163Hemoglobinopathies Detection with the MigeleTM Gel Electrophoresis Unit in New JerseyD. McCourt1, H. Luoto-Helminen2, F. Meindl2; 1New Jersey Depart of Health, Trenton, NJ, 2PerkinElmer, Turku, Finland

Presenter: Heidi Luoto-Helminen, PerkinElmer, Turku, Finland, Email: [email protected]

Symposia HistoryNational Neonatal Screening Symposium (1981-1999)

Newborn Screening & Genetic Testing Symposium (2001 onward)

1981 Austin, TX

1982 Chicago, IL

1984 Orlando, FL

1985 Columbus, OH

1986 Austin, TX

1988 Portland, OR

1989 New Orleans, LA

1991 Saratoga, NY

1992 Raleigh, NC

1994 Seattle, WA

1995 Corpus Christi, TX

1996 Boston, MA

1998 San Diego, CA

1999 St. Louis, MO

2001 Raleigh, NC

2002 Phoenix, AZ

2004 Atlanta, GA

2005 Portland, OR

2007 Minneapolis, MN

2008 San Antonio, TX

2010 Orlando, FL

2011 San Diego, CA

2013 Atlanta, GA (with ISNS)

2014 Anaheim, CA

2016 St. Louis, MO

2017 New Orleans, LA

2019 Chicago, IL

Future APHL Meetings

APHL 2019St. Louis, MOJune 3-6, 2019

APHL 2020Portland, ORJune 8-11, 2020

8515 Georgia Avenue, Suite 700 Silver Spring, MD 20910

phone 240.485.2745 | fax 240.485.2700 www.aphl.org

iss-lims.com/OMNI-NBSiss-lims.com/LinkedIn

ISSBelieve in Better

Backed by our expert support and global presence, OMNI-Lab NBS is a flexible Laboratory Information System designed to meet the ever-changing needs of the modern

Newborn Screening Laboratory.

We believe our responsive service, open access to leadership and flexibility to be just as important as our full

features, enhanced functionality and powerful workflows.

We work harder. Get there faster. Care more.

VISIT US AT BOOTH 118, 119 & 218 TO DISCUSS HOW OMNI-LAB NBS CAN WORK FOR YOU

We’re here because

you’re here

iss-lims.com/OMNI-NBSiss-lims.com/LinkedIn

ISSBelieve in Better

Backed by our expert support and global presence, OMNI-Lab NBS is a flexible Laboratory Information System designed to meet the ever-changing needs of the modern

Newborn Screening Laboratory.

We believe our responsive service, open access to leadership and flexibility to be just as important as our full

features, enhanced functionality and powerful workflows.

We work harder. Get there faster. Care more.

VISIT US AT BOOTH 118, 119 & 218 TO DISCUSS HOW OMNI-LAB NBS CAN WORK FOR YOU

We’re here because

you’re here

2019 APHL Newborn Screening and Genetic Testing Symposium...6 | 2019 APHL Newborn Screening and...

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Transcript of 2019 APHL Newborn Screening and Genetic Testing Symposium...6 | 2019 APHL Newborn Screening and...