Primary Care Physician Experiences with Integrated Population-Scale Genetic Testing: A Mixed-Methods Assessment

Increased availability and awareness of genetic testing requires collaboration between genetics and non-genetics providers. Thus, researchers conducted interviews and surveys with primary care practitioners (PCPs) to investigate the perceived value and barriers of incorporating DNA-10K, a  population genetic testing program, into primary care. The program includes tests for genes associated with hereditary cancer and cardiac conditions, pharmacogenomics, ancestry and common trait information. The utility of the genetic test result was endorsed by PCPs, however, they highlighted logistical challenges in incorporating genetic testing into their practice. Furthermore, PCPs reported low confidence with tasks related to ordering, interpreting and managing the results of genetic tests, and identified the need for additional education. PCPs reported recommending patients’ family members undergo genetic testing most commonly for cancer risk, followed by cardiac risk and pharmacogenomics. However, less than half felt confident in their ability to explain genetic test results related to cancer risk.  As genetic testing becomes increasingly utilised in clinical care, findings from this study may be beneficial for other institutions undertaking the challenge of clinical implementation of genomics-guided care across their health system.

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