In the News

Medical Genome Initiative Publishes First Best Practices Paper

October, 2020 – NPJ Genome Medicine published the Medical Genome Initiative’s first best practices manuscript: “Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.” This paper presents consensus recommendations on clinical WGS analytical validation for the diagnosis of individuals with suspected germline disease, including practical advice for test development optimization, validation practices and ongoing quality management.

The full manuscript can be accessed online here. The publication was authored by the analytical validity working group on behalf of the Medical Genome Initiative.

Medical Genome Initiative Publishes Inaugural Manuscript

May 27, 2020 – Genome Medicine published the Medical Genome Initiative’s first paper: “The Medical Genome Initiative: Moving whole-genome sequencing for rare disease diagnosis to the clinic.” This paper outlines the consortium’s aims of expanding access to WGS for rare disease through the development of laboratory and clinical best practices. The full manuscript can be accessed online here. The publication was authored on behalf of the Medical Genome Initiative by the steering committee members.

Leading Health and Research Organizations Collaborate to Launch the Medical Genome Initiative

Consortium aims to expand access to high-quality clinical whole genome sequencing for genetic diseases

February 26, 2019 – Eight leading health care and research organizations in the U.S. and Canada have signed an agreement to launch the Medical Genome Initiative, a consortium that will work to expand access to high-quality clinical whole genome sequencing (cWGS) for the diagnosis of genetic diseases. The Initiative will focus on the publication of common laboratory and clinical best practices for the application of cWGS. Founding member institutions of the Medical Genome Initiative include Baylor Genetics; Broad Institute of MIT and Harvard; HudsonAlpha Institute for Biotechnology; Illumina, Inc.; Mayo Clinic; Rady Children’s Institute for Genomic Medicine; The Hospital for Sick Children (SickKids Toronto); and Stanford Medicine.

Rare genetic diseases affect more than 350 million people globally and are a particularly significant source of morbidity and mortality among children, who commonly experience multiyear diagnostic evaluations with multiple misdiagnoses.1  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.2 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. For cWGS to be implemented at scale, recommended best practices are useful to guide the clinical community, and the Medical Genome Initiative was created to address this need.

“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, Ph.D., 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 health care systems looking to implement this technology for genetic-disease populations lack recommended best practices to inform test validation and deployment. By coming together, the Initiative can provide an informed perspective on how to best implement this promising new technology and measure its utility.”

Initial topic areas of focus for the Initiative include cWGS analytical validity, clinical utility measures, clinical data infrastructure and data sharing. Visit the Medical Genome Initiative website for more information.

About the Medical Genome Initiative

The Medical Genome Initiative is a consortium of leading clinical laboratories in the U.S. and Canada with a mission to expand access to high-quality clinical whole genome sequencing (cWGS) for the diagnosis of genetic disease. The initial focus of the Medical Genome Initiative will publish recommended laboratory and clinical practices for cWGS, along with common clinical research frameworks for demonstrating its value.

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1 Global Genes;
2 Lionel et al. Genet Med. 2018 Apr;20(4):435-443

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