How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey

Author:

Mighton Chloe,Clausen Marc,Shickh Salma,Baxter Nancy N.,Scheer Adena,Sebastian Agnes,Muir Sarah M.,Kim Theresa H.M.,Glogowski Emily,Schrader Kasmintan A.,Regier Dean A.,Kim Raymond H.,Lerner-Ellis Jordan,Bayoumi Ahmed M.,Thorpe Kevin E.,Bombard YvonneORCID

Funder

Canadian Centre for Applied Research in Cancer Control

St Michael's Hospital Foundation

Canadian Institutes of Health Research

Canadian Cancer Society

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference50 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

2. The clinical utility of exome and genome sequencing across clinical indications: a systematic review;Shickh;Hum Genet,2021

3. The challenge of genetic variants of uncertain clinical significance: a narrative review;Burke;Ann Intern Med,2022

4. National Comprehensive Cancer Network (NCCN). NCCN clinical practice guidelines in oncology V1.2022: Genetic /familial high-risk assessment: breast, ovarian, and pancreatic. NCCN Clinical Practice Guidelines; 2021. Accessed March 28, 2023. NCCN.org

5. Understanding genetic variants of uncertain significance;Joynt;Paediatr Child Health,2021

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