Medical Genome Initiative wants to facilitate genomic medicine

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A newly formed organization will be working on ways to scale the use of high-quality clinical whole genome sequencing to diagnose and treat genetic diseases.

The Medical Genome Initiative—created through the support of eight leading healthcare and research organizations as founding members—will look for ways to expand the use of clinical whole genome sequencing (cWGS) to aid in treatment of patients.

Founding member institutions of the initiative include Baylor Genetics; Broad Institute of MIT and Harvard; HudsonAlpha Institute for Biotechnology; Illumina; Mayo Clinic; Rady Children’s Institute for Genomic Medicine; The Hospital for Sick Children (SickKids Toronto); and Stanford Medicine.

The Initiative will focus on the publication of common laboratory and clinical best practices for the application of cWGS. Specifically, initial topic areas for the Initiative include cWGS analytical validity, clinical utility measures clinical data infrastructure and data sharing.

Many experts see genomic sequencing as a key tool in improving the specificity of treatment and diagnosis; however, it’s challenging to determine how best to use the vast information derived from the process for research and then application to treatment. The Medical Genome Initiative aims to capitalize on cWGS toward this end.

Executives of the new organization say cWGS is a comprehensive method for analyzing the human genome in a clinical setting, and emerging evidence shows cWGS can detect most forms of clinically relevant variation for patients with a rare genetic disease. Early deployment of cWGS has the potential to deliver precise molecular diagnosis to enable change in medical management, thereby reducing the number of unresolved, complex, costly and chronic genetic disease cases, especially for newborns and children.

However, for cWGS to be implemented at scale, recommended best practices are needed to guide the clinical community.

“With the launch of this consortium, we’re bringing together clinical laboratory and medical genomics experts who are pioneering the application of cWGS in routine clinical testing and clinical research for patients with genetic diseases,” says Christian Marshall, co-director of the Centre for Genetic Medicine at SickKids and chairperson of the Medical Genome Initiative.

“Emerging evidence on cWGS is positive, but clinical laboratories and healthcare systems looking to implement this technology for genetic-disease populations lack recommended best practices to inform test validation and deployment,” Marshall adds. “By coming together, the Initiative can provide an informed perspective on how to best implement this promising new technology and measure its utility.”

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