Genetics and Newborn Screening - University of...
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Genetics and Newborn Screening
January 23, 2017
John D. Thompson, PhD , MPH, MPA
Washington State Department of Health
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The Case for Genetics
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Neurodevelopmental Disorders • Intellectual disability
• Autism spectrum disorders
• Fetal alcohol syndrome
• Motor disorders
• Traumatic brain injury
• Communication, speech and language disorders
• Genetic disorders
• Attention deficit hyperactivity disorder
• Schizophrenia
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The Case for Genetics
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Case Study: Phenylketonuria (PKU)
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Bob Guthrie: Father of NBS
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Phenylketonuria: Simple Idea
• Screen all infants
• Remove phenylalanine from the diet
• Prevent intellectual disability, improve outcomes
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Phenylketonuria: Complex Reality
• Overtreatment – malnourished
• Variable expression
• Screening test casts a wide net: – Hyperphenylalaninemia - benign – Tetrahydrobiopterin defect (1% of cases)
• Maternal PKU
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Phenylketonuria: Complex Reality
• Very large numbers of patients - clinical care capacity for affected individuals (UW PKU clinic at CHDD)
• Transition into adulthood
• Language and Cultural Barriers – need interpreters and case managers
• Treatment – special medical formula – who pays?
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Public Health Genetics: Newborn Screening
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What is Newborn Screening?
An integrated system that includes:
• Universal screening - all infants
• Follow-up to assure appropriate clinical response
• Referral for diagnosis of affected infants
• Appropriate treatment and clinical care
• Evaluation of system effectiveness (long-term follow-up)
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NBS Follow-up Systems Map
Beth Ogata quote
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Case Study: Congenital Hypothyroidism
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Why is Newborn Screening Important?
It prevents death and disability to affected infants by providing early treatment
It benefits the public through savings in health care and disability support costs
Two 6 year old girls with congenital hypothyroidism
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1st NBS Collection (1d)
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Patient Demographics
• Sex: male
• DOB: 02/04/1998 @ 0535
• Race: white
• Birth order: single
• Birthweight: 3149g (6lbs 15oz)
• Gestation: 36 weeks
• Birth hospital: Overlake
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Neonatal Exam (5d)
• Clinical Symptoms:
– Constipation (less than 1 stool/day)
– Poor Feeding
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Newborn Screen Results (8d)
• Date reported: 2/12/1998
• Results:
– T4 = 7.4 μg/dL (normal > 10)
– TSH = 454.1 μIU/mL (normal < 29.4)
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Reporting NBS Results (8d)
• Contacted provider
– Follow-up staff reported results to PCP
– Instructions: • Obtain blood for serum thyroid studies
• Perform thyroid scan
• Consult with Pediatric Endocrinologist
• Submit a routine 2nd NBS
• Official report mailed
• Follow-up on infant’s status
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Treatment Started (12d)
• Intervention
– Medication: Levothyroxine
(synthetic thyroid hormone)
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Newborn Thyroid Clinical Evaluation
(16d)
• Seen by Pediatric Endocrinologist
• 1st Exam since notification of abnormal NBS
• No family history of thyroid disorders
• Mother was not exposed to iodine or antithyroid drugs during pregnancy
• Technetium scan completed at Seattle Children’s
• Infant weight 7 lbs. 4 oz. (5 oz. gained since birth)
• No physical or neurological development problems
• Treatment: Continue Levothyroxine
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Referral to UW CH Clinic 1 month – 4 years old
03/10/1998 Letter sent to parents by NBS Coordinator enquiring if
parents would like to enroll Aiden with the Congenital
Hypothyroidism Developmental Evaluation Clinic
at the University of Washington.
06/15/1998 Signed Parental Consent Form Received
06/19/1998 NBS Program sends parent information to Clinic
Coordinator at UW
07/31/1998 1st Clinic Visit
02/19/1999 2nd Clinic Visit
08/18/2000 3rd Clinic Visit
04/05/2002 4th Clinic Visit
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Fast Forward - 2015
• Telephone call
– High school senior
– Hypothyroidism
– Science project
• Tour of NBS lab
• Q&A during school
year
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Aiden Today
• Science expo
award winner:
education
• UW student
– Pre-med
– Rowing team
– Research interests
in NBS
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Annual Newborn Screening Numbers
Screen ~85,000 newborns
Receive ~170,000 specimens
Track ~5,000 infants with abnormal results
Prevent ~200 babies from death or disability
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Annual Newborn Screening Numbers
Screen ~85,000 newborns
Prevent ~200 babies from death or disability
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NBS Sequence of Events
recommended window for NBS specimen collection
hospital – blood collection
transit time
NBS lab testing
follow-up
Birth 1 Time (days)
2 3 4 5 6 7
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Washington Criteria for NBS
Early identification benefits the newborn
Treatment is available
Nature of the condition justifies population-based screening
A good screening test exists
The benefits justify the costs of screening
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PKU CH CAH HB
2003 2006
PKU CH CAH HB BIO GALT MCADD MSUD HCYS CF
2008
PKU CH CAH HB BIO GALT MCADD MSUD HCYS CF
2010 PKU CH CAH Hb Bio GALT MCADD MSUD HCYS CF ASA CIT TYR-I GA-I IVA MMA PROP HMG BKT MCD VLCADD LCHADD TFP CUD
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Case Study #3
Improving the Sensitivity of the Screen for Cystic Fibrosis
PKU CH CAH Hb Bio GALT MCADD MSUD HCYS CF ASA CIT TYR-I GA-I IVA MMA PROP HMG BKT MCD VLCADD LCHADD TFP CUD SCID
2014
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Level of Urgency
HIGH!! • CAH
• Galactosemia
• MSUD
• CIT/ASA
• VLCAD/LCHAD/TFP
• IVA
• MMA/PROP
• CCHD
Diagnosis and treatment should be initiated ASAP!
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Level of Urgency
MODERATE
• Biotinidase deficiency
• Congenital Hypothyroidism
• Homocystinuria
• MCAD
• PKU
• GA-I
• BKT
Treatment recommended by 1 to 3 weeks of age
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Level of Urgency
Low – can wait over a weekend to contact baby’s provider
• Cystic Fibrosis
• Hemoglobin disorders
• TYR-I
• HMG/MCD
• CUD
• Hearing Loss
• SCID
Treatment recommended by 3 to 4 weeks of age
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How is screening done?
Specimen Testing – A variety of testing platforms are used to screen for the 28 disorders
– Any abnormal result is repeated in duplicate for confirmation
Washington State Department of Health
Hemoglobin Gel Electrophoresis 3 disorders 1 punch
Flouroimmunoassay Instrument 3 disorders 3 punches
PCR Instrument 1 disorder
1 punch
Tandem Mass Spectrometer 19 disorders 1 punch
Spectrophotometer 2 disorders 2 punches
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Current Events – NBS Expansion
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“I have come to the conclusion that the making of laws is like the making of
sausages – the less you know about the process the more you respect the result.”
- Frank W. Tracy quoting an unnamed member of the Illinois House of Representatives (about 1878)
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Rule Making Process
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Revised Code of Washington
• Compilation of all permanent laws/statutes now in force (Statutory Law)
• Authorizes the development of Administrative Law (WAC)
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Revised Code of Washington
• Title 70 – Public Health and Safety
– Chapter 70.83 – Phenylketonuria and other preventable heritable disorders
• Section 010 – Declaration of policy and purpose
• Section 020 – Screening tests of newborn infants
• Section 050 – Rules and regulations (SBOH)
also
• Chapter 70.02 – Medical records – Health care information access and disclosure
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Washington Administrative Code
• Rules or Regulations of executive branch agencies (Administrative Law)
– Written requirements
– Apply broadly to groups or entities
– Enable, guide or direct/prohibit
(basically, it’s how we run our program)
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• Title 246 – Department of Health
– Chapter 650 – Newborn Screening
• Section 001 – Purpose
• Section 020 – Performance of screening tests – Hospital procedures
– Conditions on screening panel
• Section 040 – Report to the board
• Section 050 – Privacy and security
• Section 990 – Screening charge
Washington Administrative Code
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So, how do we change the law?
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ALD timeline • 2014 – Parent advocate request
– SBOH to consider adding ALD
• 2015 – NBS advisory committee review
– Recommended for RUSP
• 2016 – DOH decision package
– CR101 filed
• 2017 – Legislative process to increase NBS fee
– NBS laboratory expansion
• 2018 – Start screening babies for ALD
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Current Events - Cutoffs
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Laboratory Testing
Normal Cases
Normal Cases
Distribution of lab values
Ideal
Common
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Laboratory Testing
Normal Cases
Distribution of lab values
False (+) False (-)
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Laboratory Testing
Ways to mitigate false results:
• Stratify results • birthweight • age at collection • secondary analytes or ratios
• Routine 2nd screens • Collaborative NBS data repositories
End goal – reduce the impact on families
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Newborn Screening System
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• Contracts with specialty care facilities • Help establish diagnoses – weekly
conference calls for pending cases • Meet with newly diagnosed patients –
educate families • Provide long-term support/follow-up to
ensure healthy outcomes • Quality improvement initiatives
– Screening – Clinical care
• Moral support
NBS – Clinical Partnership
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Washington State
Newborn Screening
www.doh.wa.gov/nbs
(206) 418-5410
or
1-866-660-9050