A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting.

Aly KhalifaClinton C MasonJennifer Hornung GarvinMarc S WilliamsGuilherme Del FiolBrian R JacksonSteven B BleylStanley M Huff
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Labs have heterogeneous workflows and generally have a low adoption of standards when sending genetic test reports back to EHRs. Core interpretations are often delivered as free text, limiting their computational availability for clinical decision support tools. Increased provision of genetic test data in discrete and standard-based formats by labs will benefit individual and public health.