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

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.

Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature

“…Patient-entered FH data, including the use of electronic risk assessment models, has been demonstrated to reduce the time required by healthcare professionals to collect information and has not resulted in poorer quality of data. 51,52 Point-of-care FH tools provide actionable clinical decision support for PCPs and have been developed for prenatal care, 53,54 family medicine, 55 and pediatrics. The exponential increase of genetic and genomic information is quickly exceeding the ability of humans to remember and process.…”

Survey of family history taking and genetic testing in pediatric practice

“…FHH is in the first wave of historical information that can direct a more targeted history-taking (by specific inquiries), suggest the search for additional features on physical examination, and lead to a variety of testing (radiographic, metabolic, genetic, and others). The importance of the FHH cannot be over-emphasized in the evaluation of the patients in the twenty-first century (Doerr et al 2014;Edelman et al 2014;Guttmacher et al 2004;Pyeritz 2012;Wu et al 2015;Yoon et al 2002).…”

Comprehensive process model of clinical information interaction in primary care: results of a “best-fit” framework synthesis

“…57 Clinicians also assess risk in relation to negative outcomes, such as falling or disease progression. 83,141,150,[155][156][157][158][159][160][161][162][163][164][165] Clinical reasoning (Box 6). Clinical reasoning is a "context-dependent way of thinking and decision making in professional practice to guide practice actions.…”