To address family history collection, interpretation, and application in busy primary care practices, NCHPEG has collaborated collaborating with the March of Dimes, Genetic Alliance, Harvard Partners, and the Health Resources and Services Administration to develop and evaluate a novel family history tool that focuses on prenatal and neonatal health. The tool helps to improve health outcomes for the female patient, fetus, and family by providing clinical decision support and educational resources for risk assessment based on family history. A set of screenshots and an overview of the module can be reviewed via this downloadable ppt.

1. Family Health History and Clinical Decision
Support in Primary Care
Family History for Prenatal Providers
You
Organization
For who
MM DD, 2013

2. 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

3. 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

4. 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

5. 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

6. 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 Pratt
Patient 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

7. • 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 with
Clinical decision support
Provider and patient materials
• Freeware
Pregnancy & Health Profile: A Screening and Risk
Assessment Tool

8. 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

9. VISULIZE ACTIVITIES WITH TIMELINES!Clinical Decision Support Algorithms
Objective
Adapt 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

10. Example Clinical Decision Support
CONSIDERATIONS FOR THE PATIENT
ACTION
SYNDROME/
CONDITION
REASON
Refer for genetic counseling and risk
assessment for family history of autism and
intellectual disability.
Autism
Patient 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 X
Patient reports a
family history of
autism.

11. 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.

12. Demonstration

115. Letters to the Patient

116. Implementation & Evaluation

117. Overview of Summative Evaluation Design
Source of Data Outcome Method
Administrators
Approach to integrating tool
Challenges with implementation
Level of effort and resources needed for
integration
Interview
Patients
Time required for patients to use tool
Patient satisfaction with tool
Post-tool survey
Providers
Knowledge
Confidence using family history
Satisfaction using tool, including efficiency
Perceived 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

118. 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

119. Patients
Unpublished Data: Confidential
Findings from
Patient Feedback Survey
n=513/618 (83%) total across 4 sites

120. 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 computer
4. Equally willing to provide info in computer
tool as compared to verbally to provider
5. Computer tool more desirable than paper
tool
Unpublished Data: Do not cite or share without permission from NCHPEG

121. Providers
Unpublished Data: Confidential
Findings from
Provider Feedback Survey
n = 25 / 82 (30% response)

122. 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 practice
4. Mixed perceptions of value of clinical decision support
5. Report needs to be shorter & tailored to meet providers’
needs
Unpublished Data: Do not cite or share without permission from NCHPEG

123. Performance Measures
Findings From
Patient Medical Records & Tool
n = 618 total across 4 sites
Unpublished Data: Confidential

124. 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)

125. VISULIZE ACTIVITIES WITH TIMELINES!
Conclusions from Performance Measures
1. Tool collects greater detail and higher quality
family history information
• Especially FOB and ancestry info
1. Cystic fibrosis screening rates similar pre and post,
improved at one site
2. Additional analyses planned to further study
outcomes
Unpublished Data: Do not cite or share without permission from NCHPEG

126. VISULIZE ACTIVITIES WITH TIMELINES! Summary
1. Clinical implementation
 Identified process and recommendations for clinical implementation
1. Patient feedback
 High patient satisfaction
1. 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

127. VISULIZE ACTIVITIES WITH TIMELINES!
Next Steps
1. Disseminate prenatal tool for free download
http://www.hughesriskapps.net
2. 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

128. 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

129. VISULIZE ACTIVITIES WITH TIMELINES!~50 Conditions with Decision Support
Mendelian
•Hemophilia
•Sickle cell disease
•Thalassemia
•Thrombophilia
•Von Willebrand disease
•CF
•Fragile X

130. 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