title: 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.
authors.forename: Emily A
authors.initials: EA
authors.lastname: Edelman
authors.forename: Bruce K
authors.initials: BK
authors.lastname: Lin
authors.forename: Teresa
authors.initials: T
authors.lastname: Doksum
authors.forename: Brian
authors.initials: B
authors.lastname: Drohan
authors.forename: Vaughn
authors.initials: V
authors.lastname: Edelson
authors.forename: Siobhan M
authors.initials: SM
authors.lastname: Dolan
authors.forename: Kevin S
authors.initials: KS
authors.lastname: Hughes
authors.forename: James
authors.initials: J
authors.lastname: O'Leary
authors.forename: Shelley L
authors.initials: SL
authors.lastname: Galvin
authors.forename: Nicole
authors.initials: N
authors.lastname: Degroat
authors.forename: Setul
authors.initials: S
authors.lastname: Pardanani
authors.forename: W Gregory
authors.initials: WG
authors.lastname: Feero
authors.forename: Claire
authors.initials: C
authors.lastname: Adams
authors.forename: Renee
authors.initials: R
authors.lastname: Jones
authors.forename: Joan
authors.initials: J
authors.lastname: Scott
mesh_terms: D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods; D023281:Genomics / Q000379:methods* / Q000639:trends; D006453:Hemoglobinopathies / Q000208:ethnology / Q000235:genetics; D006801:Humans; D008487:Medical History Taking / Q000379:methods*; D010375:Pedigree; D011247:Pregnancy; D011295:Prenatal Care / Q000379:methods* / Q000639:trends; D011320:Primary Health Care / Q000379:methods; D044469:Racial Groups / Q000706:statistics & numerical data; D012189:Retrospective Studies; D018570:Risk Assessment / Q000379:methods*; D012984:Software
keywords: clinical decision support; family health history; genetic screening; performance measure; prenatal care