Environmental scan of family chart linking for genetic cascade screening in a U.S. integrated health system.

ABSTRACT: Background: An alternative to population-based genetic testing, automated cascade genetic testing facilitated by sharing of family health history, has been conceptualized as a more efficient and cost-effective approach to identify hereditary genetic conditions. However, existing software and applications programming interfaces (API) for the practical implementation of this approach in health care settings have not been described. Methods: We reviewed API available for facilitating cascade genetic testing in electronic health records (EHRs). We emphasize any information regarding informed consent as provided for each tool. Using semi-structured key informant interviews, we investigated uptake of and barriers to integrating automated family cascade genetic testing into the EHR.

SUBMITTER: Haas CB 

PROVIDER: S-EPMC9403414 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature