Maternal and Child Health Journal

, Volume 18, Issue 5, pp 1233–1245

Evaluation of a Novel Electronic Genetic Screening and Clinical Decision Support Tool in Prenatal Clinical Settings


    • National Coalition for Health Professional Education in Genetics
  • Bruce K. Lin
    • March of Dimes
  • Teresa Doksum
    • Doksum Consulting
  • Brian Drohan
    • Massachusetts General Hospital
  • Vaughn Edelson
    • Genetic Alliance
  • Siobhan M. Dolan
    • March of Dimes
    • Department of Obstetrics and Gynecology and Women’s HealthMontefiore Medical Center
  • Kevin Hughes
    • Massachusetts General Hospital
  • James O’Leary
    • Genetic Alliance
  • Lisa Vasquez
    • Genetic Services BranchHealth Resources and Services Administration
  • Sara Copeland
    • Genetic Services BranchHealth Resources and Services Administration
  • Shelley L. Galvin
    • Department of Obstetrics and GynecologyMountain Area Health Education Center
  • Nicole DeGroat
    • Montefiore Medical Center
  • Setul Pardanani
    • Department of Obstetrics and Gynecology and Women’s HealthMontefiore Medical Center
  • W. Gregory Feero
    • Maine Dartmouth Family Medicine Residency
  • Claire Adams
    • Maine Dartmouth Family Medicine Residency
  • Renee Jones
    • Ariosa Diagnostics
  • Joan Scott
    • National Coalition for Health Professional Education in Genetics

DOI: 10.1007/s10995-013-1358-y

Cite this article as:
Edelman, E.A., Lin, B.K., Doksum, T. et al. Matern Child Health J (2014) 18: 1233. doi:10.1007/s10995-013-1358-y


“The Pregnancy and Health Profile” (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher’s exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83 % (513/618) of patients that provided feedback, 97 % felt PHP was easy to use and 98 % easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.


Family health historyPersonalized risk assessmentClinical decision supportPrenatal careGenetic screening

Supplementary material

10995_2013_1358_MOESM1_ESM.pdf (214 kb)
Supplementary material 1 (PDF 215 kb)
10995_2013_1358_MOESM2_ESM.pdf (43 kb)
Supplementary material 2 (PDF 44 kb)

Copyright information

© Springer Science+Business Media New York 2013