Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC medicine - 18 Aug 2021
Haverfield Eden V, Esplin Edward D, Aguilar Sienna J, Hatchell Kathryn E, Ormond Kelly E, Hanson-Kahn Andrea, Atwal Paldeep S, Macklin-Mantia Sarah, Hines Stephanie, Sak Caron W-M, Tucker Steven, Bleyl Steven B, Hulick Peter J, Gordon Ora K, Velsher Lea, Gu Jessica Y J, Weissman Scott M, Kruisselbrink Teresa, Abel Christopher, Kettles Michele, Slavotinek Anne, Mendelsohn Bryce A, Green Robert C, Aradhya Swaroop, Nussbaum Robert L
Abstract excerpt
BACKGROUND: The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines from the American College of Medical Genetics and Genomics (ACMG) have encouraged reporting pathogenic variants that confer personal risk for actionable monogenic hereditary disorders, but only as secondary findings from exome or genome sequencing. The Centers for...
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