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Health Organizations Collaborate to Launch Medical Genome Initiative

NEW YORK (GenomeWeb) – Eight health care and research organizations in the US and Canada are collaborating to launch the Medical Genome Initiative, a consortium that aims to expand access to clinical whole-genome sequencing for the diagnosis of genetic diseases.

The founding members include: Baylor Genetics, the Broad Institute, HudsonAlpha Institute for Biotechnology, Illumina, Mayo Clinic, Rady Children's Institute for Genomic Medicine, the Hospital for Sick Children, and Stanford Medicine.

The consortium will focus on publishing laboratory and clinical best practices for applying WGS, which the group thinks is needed in order for clinical WGS to be implemented at scale.

"With the launch of this consortium, we're bringing together clinical laboratory and medical genomics experts who are pioneering the application of [WGS] in routine clinical testing and clinical research for patients with genetic diseases," Christian Marshall, codirector of the Center for Genetic Medicine at SickKids and chairperson of the Medical Genome Initiative, said in a statement. "Emerging evidence on [clinical] WGS is positive, but clinical laboratories and health care systems looking to implement this technology for genetic-disease populations lack recommended best practices to inform test validation and deployment," he added.