The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Christian R Marshall; David Bick; John W Belmont; Stacie L Taylor; Euan Ashley; David Dimmock; Vaidehi Jobanputra; Hutton M Kearney; Shashikant Kulkarni; Heidi Rehm; Medical Genome Initiative

doi:10.1186/s13073-020-00748-z

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Genome Med. 2020 May 27;12(1):48. doi: 10.1186/s13073-020-00748-z.

Authors

Affiliations

¹ Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.
² HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
³ Illumina Inc., San Diego, CA, USA.
⁴ Illumina Inc., San Diego, CA, USA. staylor1@illumina.com.
⁵ Stanford Medicine Clinical Genomics Program, Stanford Health Care, Stanford, CA, USA.
⁶ Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
⁷ New York Genome Center, New York, NY, USA.
⁸ Mayo Clinic, Rochester, MN, USA.
⁹ Baylor College of Medicine and Baylor Genetics, Houston, TX, USA.
¹⁰ Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Abstract

Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS.

Keywords: Clinical whole-genome sequencing; Diagnostics; Rare genetic disease; Standards.

MeSH terms

Genome, Human*
Humans
Rare Diseases / diagnosis*
Rare Diseases / genetics*
Whole Genome Sequencing* / standards