Best practices for the interpretation and reporting of clinical whole genome sequencing.

TitleBest practices for the interpretation and reporting of clinical whole genome sequencing.
Publication TypeJournal Article
Year of Publication2022
AuthorsAustin-Tse, CA, Jobanputra, V, Perry, DL, Bick, D, Taft, RJ, Venner, E, Gibbs, RA, Young, T, Barnett, S, Belmont, JW, Boczek, N, Chowdhury, S, Ellsworth, KA, Guha, S, Kulkarni, S, Marcou, C, Meng, L, Murdock, DR, Rehman, AU, Spiteri, E, Thomas-Wilson, A, Kearney, HM, Rehm, HL
Corporate AuthorsMedical Genome Initiative*
JournalNPJ Genom Med
Volume7
Issue1
Pagination27
Date Published2022 Apr 08
ISSN2056-7944
Abstract

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test.

DOI10.1038/s41525-022-00295-z
Alternate JournalNPJ Genom Med
PubMed ID35395838
PubMed Central IDPMC8993917