Family History Module ASHG

Submitted to the 2012 American Society of Human Genetics Annual Meeting


Title:  The Pregnancy and Health Profile Pilot Project:  Evaluating the impact of integrating a novel family history and genetic screening tool on patients, providers, and clinical practice.



Emily Edelman, MS, CGC

Bruce Lin, MPH

Teresa Doksum, PhD

Brian Drohan, PhD

Kevin Hughes, MD

Siobhan Dolan, MD, MPH

Vaughn Edelson, BS

James O’Leary, BS

Lisa Vasquez, MPA

Sara Copeland, MD

Joan Scott, MS, CGC

Effective patient-entered and EHR-compatible collection tools are needed to support translation of family health history (FH) into prenatal care. However, there are limited data about the impact of computerized tools on patient and provider acceptance and outcomes. “The Pregnancy and Health Profile,” (PHP) is a free prenatal genetic screening and risk assessment software for primary prenatal providers that collects FH during intake and provides point-of-care CDS for providers and education for patients. Our objective was to evaluate patient and provider outcomes of PHP in clinical practice. The study population included diverse prenatal providers and patients at 4 sites in IN, ME, NC, and NY. Evaluation included provider pre and post knowledge and usability surveys, pre and post chart audits to assess FH risk assessment, and patient satisfaction surveys. Quantitative survey results were entered into a SPSS database and analyzed using descriptive statistics, Fisher’s exact test, and paired t-tests. Qualitative thematic analysis was used for responses to open-ended questions. 513/618 (83%) patients of diverse age and education levels provided feedback; 81% were white, 11% black, and 9% Latina. Patients felt PHP was easy to use (96%) and understand (98%). Ninety-six percent were not worried about the confidentiality of entering FH into PHP. Twenty of 65 providers (10 OBs and 6 family medicine physicians, 2 nurse midwives, 1 nurse, and 1 dietician educator) provided feedback. Providers felt the data collection and patient education aspects of PHP were useful (60%; 67%); there was mixed feedback on the usefulness of the CDS report. Provider confidence in identifying and managing genetic risks improved after using PHP in practice (p<0.05). In 2 of 3 sites with performance measure data, PHP improved documentation of a 3-generation FH (p<0.001). PHP improved documentation of race and ancestry for patient and/or father of the baby in all 3 sites (p<0.001). This study is one of the first to report on the integration of FH into primary prenatal practice. These data demonstrate that PHP is acceptable to patients and providers for providing FH and that PHP collects FH equal to or better than standard practice. Our results can inform future strategies that use point-of-care tools or online portals to improve patient participation around FH and provider management of genetic risks. Additional research is needed to validate patient-entered data in the prenatal setting.

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