npj Genomic Medicine (Apr 2022)
Best practices for the interpretation and reporting of clinical whole genome sequencing
- Christina A. Austin-Tse,
- Vaidehi Jobanputra,
- Denise L. Perry,
- David Bick,
- Ryan J. Taft,
- Eric Venner,
- Richard A. Gibbs,
- Ted Young,
- Sarah Barnett,
- John W. Belmont,
- Nicole Boczek,
- Shimul Chowdhury,
- Katarzyna A. Ellsworth,
- Saurav Guha,
- Shashikant Kulkarni,
- Cherisse Marcou,
- Linyan Meng,
- David R. Murdock,
- Atteeq U. Rehman,
- Elizabeth Spiteri,
- Amanda Thomas-Wilson,
- Hutton M. Kearney,
- Heidi L. Rehm,
- Medical Genome Initiative*
Affiliations
- Christina A. Austin-Tse
- Center for Genomic Medicine, Massachusetts General Hospital
- Vaidehi Jobanputra
- Molecular Diagnostics Laboratory, New York Genome Center
- Denise L. Perry
- Illumina Inc.
- David Bick
- HudsonAlpha Institute for Biotechnology
- Ryan J. Taft
- Illumina Inc.
- Eric Venner
- Human Genome Sequencing Center, Baylor College of Medicine
- Richard A. Gibbs
- Human Genome Sequencing Center, Baylor College of Medicine
- Ted Young
- Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children
- Sarah Barnett
- Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic
- John W. Belmont
- Illumina Inc.
- Nicole Boczek
- Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic
- Shimul Chowdhury
- Rady Children’s Institute for Genomic Medicine
- Katarzyna A. Ellsworth
- Rady Children’s Institute for Genomic Medicine
- Saurav Guha
- Molecular Diagnostics Laboratory, New York Genome Center
- Shashikant Kulkarni
- Baylor Genetics and Baylor College of Medicine
- Cherisse Marcou
- Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic
- Linyan Meng
- Baylor Genetics and Baylor College of Medicine
- David R. Murdock
- Human Genome Sequencing Center, Baylor College of Medicine
- Atteeq U. Rehman
- Molecular Diagnostics Laboratory, New York Genome Center
- Elizabeth Spiteri
- Department of Pathology, Stanford Medicine, Stanford University
- Amanda Thomas-Wilson
- Molecular Diagnostics Laboratory, New York Genome Center
- Hutton M. Kearney
- Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic
- Heidi L. Rehm
- Center for Genomic Medicine, Massachusetts General Hospital
- Medical Genome Initiative*
- DOI
- https://doi.org/10.1038/s41525-022-00295-z
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 13
Abstract
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.
