Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors

Clinical laboratory implementation of next-generation sequencing (NGS)-based constitutional genetic testing has been rapid and widespread. In the absence of widely adopted comprehensive guidance, there remains substantial variability among laboratories in the practice of NGS. One issue of sustained discussion in the field is whether and to what extent orthogonal confirmation of genetic variants identified by NGS is necessary or helpful. The Association for Molecular Pathology Clinical Practice Committee convened the NGS Germline Variant Confirmation Working Group to assess current evidence regarding orthogonal confirmation and to establish recommendations for standardizing orthogonal confirmation practices to support quality patient care.

Source: Journal of Molecular Diagnostics - May 17, 2023 Category: Pathology Authors: Kristy R. Crooks, Kelly D. Farwell Hagman, Diana Mandelker, Avni Santani, Ryan J. Schmidt, Robyn L. Temple-Smolkin, Stephen E. Lincoln Tags: Special Article Source Type: research