A Genetic History Questionnaire-Based System in Primary Prenatal Care to Screen for Selected Fetal Disorders

Abstract

DNA (and other) diagnostic tests are now available for a number of serious, but uncommon, fetal disorders. We designed and evaluated a screening system for this purpose in primary care, coupled with targeted information for practitioners and patients. We developed a 15-question family history form for completion by office staff or patients, addressing conditions for which definitive diagnosis was available, linked to secondary questionnaires to follow up on "yes" answers. Guidelines for assessing risk, follow-up recommendations, and information resources were also linked. Following pilot testing, this screening system was introduced throughout Maine. We enrolled 212 providers (85-90% of the state's pregnancies). In a subsequent survey, 85% of the practices were screening all new patients and 3% some; 12% did not use the system. Time for form completion averaged 7 min. Overall, provider satisfaction was 4.4 on a five-point scale. Patients responded favorably; a minority was anxious or overwhelmed. Total referral calls to Maine's genetic/perinatal centers did not increase, but calls about family history of genetic disorders or maternal conditions increased significantly. This screening system for guiding appropriate use of DNA (and other) testing in pregnancy can be used successfully in primary care.

Personalizing Prenatal Care Using Family Health History: Identifying a Panel of Conditions for a Novel Electronic Genetic Screening Tool

“…FHH tools that have been developed to assist the prenatal provider -for example, the first prenatal assessment and genetic evaluation tool [28] -are largely paper-based and face challenges in dissemination, maintenance of current content and integration into emergent health information technology systems. Medical care at all levels is in need of integrated data collection and risk assessment systems that employ standardized terms and machine-readable algorithms for sustain ability and interoperability.…”

“…Examining professional guidelines from ACOG, ACMG, the National Society of Genetic Counselors, the American Academy of Pediatrics and other national guideline setting organizations to identify conditions for which there are recommendations to incorporate disease-specific FHH screening in primary prenatal care; Searching the published literature database PubMed using keywords (e.g., 'family history', 'family health history', 'prenatal outcomes' and 'perinatal outcomes') to find literature supporting the use of FHH during the prenatal period to assess risk or manage maternal/child health conditions; Reviewing available prenatal FHH and genetic screening tools (Table 1) from professional organ izations [108,109], foundations [110] and commercial groups [111,112] to determine the types of FHH information prenatal providers are currently collecting and using [28].…”