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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Eden V HaverfieldEdward D EsplinSienna J AguilarKathryn E HatchellKelly E OrmondAndrea Hanson-KahnPaldeep S AtwalSarah Macklin-MantiaStephanie HinesCaron W-M SakSteven TuckerSteven B BleylPeter J HulickOra K GordonLea VelsherJessica Y J GuScott M WeissmanTeresa KruisselbrinkChristopher AbelMichele KettlesAnne SlavotinekBryce A MendelsohnRobert C GreenSwaroop AradhyaRobert L Nussbaum
Published in: BMC medicine (2021)
This is one of the first real-world examples of specialists and primary care providers using genetic screening with a multi-gene panel to identify health risks in their patients. Nearly one in six individuals screened for variants associated with actionable monogenic disorders had clinically significant results. These findings provide a foundation for further studies to assess the role of genetic screening as part of regular medical care.
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