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.
Implementation of an electronic genomic and family health history tool in primary prenatal care
Version of Record online: 10 MAR 2014
© 2014 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Implementation of Genomic Medicine
Volume 166, Issue 1, pages 34–44, March 2014
How to Cite
2014. Implementation of an electronic genomic and family health history tool in primary prenatal care. Am J Med Genet Part C Semin Med Genet 166C:34–44., , , , , , , , , , , , , , .
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: firstname.lastname@example.org
- Issue online: 18 MAR 2014
- Version of Record online: 10 MAR 2014
- Health Resources and Services Administration (HRSA). Grant Number: #U33MC12786
- family health history;
- clinical decision support;
- performance measure;
- prenatal care;
- genetic screening
“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.