Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach

• Published in: Molecular genetics & genomic medicine Vol. 7; no. 5; pp. e630 - n/a
• Main Authors: Zion, Tricia N., Wayburn, Bess, Darabi, Sourat, Lamb Thrush, Devon, Smith, Erica D., Johnston, Tami, Martin, Brissa, Hagman, Kelly D. F., Parra, Melissa, Antolik, Christian
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.05.2019; John Wiley and Sons Inc
• Subjects: cardiology; Cardiovascular disease; Classification schemes; clinical validity; detection rate; gene characterization; Gene sequencing; gene vetting; Genes; Genetic Predisposition to Disease; Genetic Testing - methods; Genetic Testing - standards; gene–disease relationship; Humans; Laboratories; Multifactorial Inheritance; multi‐gene panel genetic testing; Original; Validity; gene-disease relationship; gene vetting; multi-gene panel genetic testing; detection rate; gene characterization; cardiology; clinical validity

Background Advances in sequencing technology have led to expanded use of multi‐gene panel tests (MGPTs) for clinical diagnostics. Well‐designed MGPTs must balance increased detection of clinically significant findings while mitigating the increase in variants of uncertain significance (VUS). To maxi...