Implementation of an electronic genomic and family health history tool in primary prenatal care

Authors

  • Emily A. Edelman,

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    • Emily A. Edelman, M.S., C.G.C. was a Project Director at the National Coalition for Health Professional Education in Genetics (NCHPEG) when this work was conducted. Ms. Edelman is a board certified genetic counselor with a background in healthcare provider education. She is currently the Associate Director of Clinical & Continuing Education at The Jackson Laboratory in Bar Harbor, Maine, where she continues her work in the development, implementation, and evaluation of genomic education and resources.
  • Bruce K. Lin,

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    • Bruce K. Lin, M.P.H. is the Manager of Special Initiatives at the March of Dimes, where he directs the development, implementation, and evaluation of diverse health education initiatives for both the public and health professionals. He has a background in public health genetics, genetic epidemiology, genetics education, and health information technology.
  • Teresa Doksum,

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    • Teresa Doksum, Ph.D., M.P.H. is a health services researcher at Doksum Consulting. She has served as external evaluator for genetics education and family history programs for patients and healthcare providers.
  • Brian Drohan,

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    • Brian Drohan, Ph.D. is a Senior Software Engineer at Massachusetts General Hospital in the department of Surgical Oncology. His work focuses on the development and implementation of health information technology solutions for patient risk assessment and management.
  • Vaughn Edelson,

  • Siobhan M. Dolan,

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    • Siobhan M. Dolan, M.D., M.P.H. is a medical advisor to March of Dimes, a professor in the Department of Obstetrics & Gynecology and Women's Health at the Albert Einstein College of Medicine, and an attending physician in the Division of Reproductive Genetics at Montefiore Medical Center, the University Hospital for Einstein, in New York City. Dr. Dolan is board certified in both OB-GYN and clinical genetics. Her research interests focus on the integration of genetics into maternal and child health, specifically looking at ways to apply advances in genetics and genomics to improve the health of mothers and babies and prevent birth defects and preterm birth.
  • Kevin S. Hughes,

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    • Kevin S. Hughes, M.D. is a member of the Department of Surgical Oncology at the Massachusetts General Hospital where he is the Surgical Director of the Breast Screening Program, Surgical Director of the Breast and Ovarian Cancer Genetics and Risk Assessment Program, and Co-Director of the Avon Comprehensive Breast Evaluation Center. Dr. Hughes has served on numerous national and regional committees and is actively involved in research regarding the genetics, screening, diagnosis and treatment of breast cancer.
  • James O'Leary,

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    • James O'Leary, M.B.A., Chief Innovation Officer at Genetic Alliance, builds collaborations between stakeholders to drive change within the healthcare system and engages individuals, families, and communities to reclaim control of their health.
  • Shelley L. Galvin,

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    • Shelley L. Galvin, M.A. is the Director of the Center for Research at the Mountain Area Health Education Center in Asheville, North Carolina and an Adjunct Assistant Professor in the Department of Obstetrics and Gynecology, School of Medicine, University of North Carolina–Chapel Hill.
  • Nicole DeGroat,

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    • Nicole DeGroat, M.B.A. was a grants specialist at Montefiore Medical Center when this work was conducted.
  • Setul Pardanani,

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    • Setul Pardanani, M.D. is an attending physician at Montefiore Medical Center, the University Hospital for Einstein, in New York City, and an assistant professor in the Department of Obstetrics & Gynecology and Women's Health at the Albert Einstein College of Medicine.
  • W. Gregory Feero,

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    • W. Gregory Feero, M.D., Ph.D. is board-certified family medicine physician with a background in human genetics. He is Research Director at the Maine Dartmouth Family Medicine Residency program and sees patients at Four Seasons Family Practice in Fairfield, Maine. Dr. Feero also serves as a contributing editor for the Journal of the American Medical Association, and is a consultant to the Division of Cancer Control and Population Sciences of the National Cancer Institute, National Institutes of Health.
  • Claire Adams,

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    • Claire Adams, M.A. was a Research Assistant at the Maine Dartmouth Family Medicine Residency program in Augusta, Maine when this work was conducted.
  • Renee Jones,

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    • Renee Jones, M.S., C.G.C. is a board certified genetic counselor and was at the Community Health Network in Indianapolis, Indiana when this work was conducted. She is now the Market Development Manager at Ariosa Diagnostics.
  • Joan Scott

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    • Joan Scott, M.S., C.G.C. is a board certified genetic counselor whose work focuses on the translation of genomic discoveries into clinical practice. She was the Executive Director of NCHPEG when this work was conducted.

  • Conflicts of interest: none.
  • * Correspondence to: Emily Edelman, M.S., National Coalition for Health Professional Education in Genetics, 2360 W Joppa Road, Suite 320, Lutherville, MD 21093. E-mail: emily.edelman@jax.org

Abstract

“The Pregnancy and Health Profile,” (PHP) is a free genetic risk assessment software tool for primary prenatal providers that collects patient-entered family (FHH), personal, and obstetrical health history, performs risk assessment, and presents the provider with clinical decision support during the prenatal encounter. The tool is freely available for download at www.hughesriskapps.net. We evaluated the implementation of PHP in four geographically diverse clinical sites. Retrospective chart reviews were conducted for patients seen prior to the study period and for patients who used the PHP to collect data on documentation of FHH, discussion of cystic fibrosis (CF) and hemoglobinopathy (HB) carrier screening, and CF and HB interventions (tests, referrals). Five hundred pre-implementation phase and 618 implementation phase charts were reviewed. Documentation of a 3-generation FHH or pedigree improved at three sites; patient race/ethnicity at three sites, father of the baby (FOB) race/ethnicity at all sites, and ancestry for the patient and FOB at three sites (P < 0.001–0001). CF counseling improved for implementation phase patients at one site (8% vs. 48%, P < 0.0001) and CF screening/referrals at two (2% vs. 14%, P < 0.0001; 6% vs. 14%; P = 0.05). Counseling and intervention rates did not increase for HB. This preliminary study suggests that the PHP can improve documentation of FHH, race, and ancestry, as well as the compliance with current CF counseling and intervention guidelines in some prenatal clinics. Future evaluation of the PHP should include testing in a larger number of clinical environments, assessment of additional performance measures, and evaluation of the system's overall clinical utility. © 2014 Wiley Periodicals, Inc.

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