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

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

Abstract 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...

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Bibliographic Details
Main Authors: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum
Format: Article
Language:English
Published: BMC 2021-08-01
Series:BMC Medicine
Subjects:
Cardiovascular disorders
Clinical genetics
Hereditary cancer syndromes
Monogenic disorders
Population screening
Proactive genetic screening
Online Access:https://doi.org/10.1186/s12916-021-01999-2

Internet

https://doi.org/10.1186/s12916-021-01999-2

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