Family Health History and Clinical Decision Support in Primary Care

Family History for Prenatal Providers

YouOrganization

For whoMM DD, 2013

VISULIZE ACTIVITIES WITH TIMELINES!Objectives

1. Describe the Pregnancy & Health Profile tool

2. Discuss implementation in four clinical settings

3. Recognize goals and features of pediatric family history tool

Work presented is funded through HRSA cooperative agreement #U33MC12786

VISULIZE ACTIVITIES WITH TIMELINES!Historical Perspective

• Need identified through: • HRSA, SACHDNC, ACOG Genetics Committee

• 2008 HRSA Funding Announcement: “Family History for Prenatal Providers”• Integrate genetics and NBS information into a health

history • Assist genetic clinical decision-making• Educate the patient and the provider• Address the life-course of the female patient

VISULIZE ACTIVITIES WITH TIMELINES!Family History for Prenatal Providers

Improve identification of women and babies at risk of developing genetic disease

Develop and evaluate a family history and genetic screening tool for primary-care prenatal providers

The Pregnancy & Health Profile

VISULIZE ACTIVITIES WITH TIMELINES!Project Partners

NCHPEG• Joan Scott• Emily Edelman

Harvard Partners/ NWH/MGH• Kevin Hughes• Brian Drohan

Genetic Alliance• James O’Leary• Vaughn Edelson

HRSA• Lisa Vasquez

March of Dimes• Siobhan Dolan• Bruce Lin

Evaluator • Teresa Doksum

Eileen Beard, C.N.M., F.N.P. Senior Practice Advisor, American College of Nurse-Midwives

Robin Bennett, M.S., C.G.C. UWMC Medical Genetics Clinic Mildred Cho, Ph.D. Associate Director, Stanford Center for Biomedical Ethics Alan Fleischman, M.D. (Committee Chairman)Senior Vice President and Medical Director, March of Dimes Susan Gross, M.D.Professor and Medical Genetics Program Director, North Bronx

Healthcare Network, Jacobi Medical Center James Haddow, M.D. Professor, Pathology & Laboratory Medicine, Brown University Lorrie Kline Kaplan Executive Director, American College of Nurse-Midwives Celia Kaye, M.D., Ph.D. Assistant Professor of Pediatrics, University of Texas, Health

Science Center Thomas Musci, M.D. Director, Medical Affairs; Predictive Health at Novartis

Diagnostics, Inc.

Nicole PrattPatient Advocate

Nancy Rose, M.D. Director, Reproductive Genetics, Intermountain Health Care;

University of Utah

Catherine Ruhl, C.N.M., M.S. Associate Director, Association of Women’s Health Obstetric

and Neonatal Nurses (AWHONN)

Louisa Stark, Ph.D.Director, Genetic Science Learning Center, University of Utah

Jackie Tillett, N.D., C.N.M., F.A.C.N.M. Director, Midwifery and Wellness Center, Aurora Sinai

Medical Center; Assistant Professor, University of Wisconsin; American College of Nurse-Midwives

Alan Zuckerman, M.D.Assistant Professor, Department of Pediatrics, Georgetown

University Hospital Debra Hawks, M.P.H.Senior Director of Practice, ACOG

Perry Pugno, M.D., M.P.H.Director of Medical Education, AAFP

Advisory Committee

• Helps the busy primary care provider translate family history data for clinical care

• Engages the patient as an active participant • Provides a personalized clinical encounter withClinical decision supportProvider and patient materials• Freeware

Pregnancy & Health Profile: A Screening and Risk Assessment Tool

VISULIZE ACTIVITIES WITH TIMELINES! 27 Conditions with Decision Support

Mendelian Congenital•Ashkenazi Jewish-associated diseases•Cystic fibrosis•Fragile X•Sickle cell disease•Spinal Muscular Atrophy •Tay-Sachs•Thalassemia

Mendelian Pregnancy & Lifespan

•Thrombophilia •Hemophilia, von Willebrand•HBOC•Lynch

Complex Congenital•Consanguinity •Hearing loss, congenital and early-onset (<40 y)•Vision loss, congenital and early-onset (<40 y)•Congenital heart defect•Neural tube defect•ID•Autism

Complex Pregnancy & Lifespan•Cardiovascular Disease•Diabetes•Epilepsy•Hypertension•Mental Illness•Osteoporosis•Pre-term birth•Recurrent pregnancy loss (2+)•Sudden death

VISULIZE ACTIVITIES WITH TIMELINES!Clinical Decision Support Algorithms

ObjectiveAdapt professional society recommendations into machine-readable algorithms

Methods•Project directors and PIs assessed literature and guidelines•Proposed risk assessment algorithms and messaging appropriate for the first prenatal visit•External review among advisory committee and other content experts•Formative evaluation with primary care prenatal providers

Example Clinical Decision Support

CONSIDERATIONS FOR THE PATIENT

ACTIONSYNDROME/ CONDITION

REASON

Refer for genetic counseling and risk assessment for family history of autism and intellectual disability.

AutismPatient reports a family history of autism.

Consider Fragile X carrier testing for your patient, and referral to genetic counseling for complete Fragile X family history risk assessment.

Fragile XPatient reports a family history of autism.

VISULIZE ACTIVITIES WITH TIMELINES!How it Works

Waiting Room Clinical Encounter

(1) Patient enters history(1) Patient enters history

(2) Electronic risk assessment (2) Electronic risk assessment

(3) Clinician reviews report(3) Clinician reviews report

(4) Shared decision making (4) Shared decision making

(5) Patient education(5) Patient education

(6) Clinician documentation(6) Clinician documentation

Images attributed as follows: Doctor designed by Andrew McKinley, from The Noun Project; Printer designed by James Fenton from The Noun Project.

Demonstration

Letters to the Patient

Implementation & Evaluation

Overview of Summative Evaluation DesignSource of Data Outcome Method

AdministratorsApproach to integrating toolChallenges with implementationLevel of effort and resources needed for

integration

Interview

PatientsTime required for patients to use toolPatient satisfaction with tool Post-tool survey

Providers

KnowledgeConfidence using family historySatisfaction using tool, including efficiencyPerceived usefulness of tool

Pre-tool survey

Post-tool survey

Provider behavior

Provider practices regarding guidelines for:• discussion, counseling, education;• referrals to specialists; and• screening tests offered and ordered

Chart audits

VISULIZE ACTIVITIES WITH TIMELINES!Clinical Implementation – 4 sites, > 600 patients, 80 providers

Maine-Dartmouth Family Medicine Residency

Family Medicine Practice, Academic

Augusta & Fairfield, ME Bronx, NY

Montefiore Medical Center Comprehensive Family Care Center

Community Health Center, Academic

Asheville, NC

Mountain Area Health Education Center

State Area Health Education Center, Academic

Clearvista practice, Community Health Network

OB Practice, Community Hospital System

Indianapolis, IN

Patients

Unpublished Data: Confidential

Findings fromPatient Feedback Survey

n=513/618 (83%) total across 4 sites

VISULIZE ACTIVITIES WITH TIMELINES!Conclusions from Patient Data

1. Tool tested in diverse patient population 2. Acceptability and usability high across

populations 3. Patients comfortable entering personal and

family history info into computer4. Equally willing to provide info in computer

tool as compared to verbally to provider5. Computer tool more desirable than paper

tool

Unpublished Data: Do not cite or share without permission from NCHPEG

Providers

Unpublished Data: Confidential

Findings fromProvider Feedback Surveyn = 25 / 82 (30% response)

VISULIZE ACTIVITIES WITH TIMELINES!Conclusions from Provider Data

1. Confidence in identifying & managing pts at-risk increased

2. Value in questionnaire and fact sheets for patient engagement, education

3. Mixed perceptions of impact on work flow and practice4. Mixed perceptions of value of clinical decision support5. Report needs to be shorter & tailored to meet providers’

needs

Unpublished Data: Do not cite or share without permission from NCHPEG

Performance Measures

Findings FromPatient Medical Records & Tool

n = 618 total across 4 sites

Unpublished Data: Confidential

VISULIZE ACTIVITIES WITH TIMELINES!Genetic Performance Measures Assessed through pre- and post-chart audits

1% of patients that have a documented 3-generation family history. 3-Generation Definition: At least one member of three generations documented. For example: the patient, her children, and her parents.(ACOG. Obstet Gynecol. 2011;117:747-750)

2% of patients and FOBs that have documented ethnicity and ancestry data.(ACOG. Obstet Gynecol. 2011;117:747-750)

3% of patients for whom there is documented discussion, counseling, or education about cystic fibrosis carrier screening. (ACOG. Obstet Gynecol. 2011; 117:1028-31)

4% of African-American patients for who there is documented discussion, counseling, or education about SCA carrier screening.(ACOG. Obstet Gynecol. 2007; 109:229-37)

5% of Asian-American patients for who there is documented discussion, counseling, or education about thalassemia carrier screening.(ACOG. Obstet Gynecol. 2007; 109:229-37)

VISULIZE ACTIVITIES WITH TIMELINES!

Conclusions from Performance Measures

1. Tool collects greater detail and higher quality family history information • Especially FOB and ancestry info

2. Cystic fibrosis screening rates similar pre and post, improved at one site

3. Additional analyses planned to further study outcomes

Unpublished Data: Do not cite or share without permission from NCHPEG

VISULIZE ACTIVITIES WITH TIMELINES! Summary

1. Clinical implementation Identified process and recommendations for clinical implementation

2. Patient feedback High patient satisfaction

3. Provider outcomes Value patient engagement and education Improvements in confidence Mixed provider feedback about decision support

Unpublished Data: Do not cite or share without permission from NCHPEG

VISULIZE ACTIVITIES WITH TIMELINES! Next Steps

1. Disseminate prenatal tool for free download http://www.hughesriskapps.net2. Continue to study the impact of the tool in a

prenatal population 3. Develop adaptations for additional clinical

settings (e.g., pediatric)4. Develop web-based and non-English language

versions

Unpubished Data: Do not cite or share without permission from NCHPEG

VISULIZE ACTIVITIES WITH TIMELINES!Family History for Pediatric Providers

• Partnership with AAP Genetic in Primary Care Institute

• 1-year project• HRSA funded• Develop a pediatric family history tool • Adaptation of Pregnancy & Health Profile

VISULIZE ACTIVITIES WITH TIMELINES! ~50 Conditions with Decision Support

Mendelian•Hemophilia•Sickle cell disease•Thalassemia•Thrombophilia•Von Willebrand disease•CF•Fragile X

VISULIZE ACTIVITIES WITH TIMELINES!Family History for Pediatric Providers

• Advisory group established• Conditions selected• Questionnaire developed • Programming underway• Pilot testing this summer• Tool released September 2013