Clinical whole genome sequencing can reduce unresolved chronic genetic disease cases. But the technology has to be used properly.
Thumbnail and photo have been modified. Courtesy of Scientifist.
Eight healthcare and research organizations from the U.S. and Canada have joined forces to launch the Medical Genome Initiative to expand access to high-quality clinical whole genome sequencing for the diagnosis of genetic diseases, according to a release.
The organizations 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 in Toronto and Stanford Medicine.
Clinical whole genome sequencing technology can be used to analyze the human genome in a clinical setting and can detect variation for patients with a rare genetic disease. The technology has the potential to reduce unresolved, complex, costly and chronic genetic disease cases.
“By coming together, the (Medical Genome Initiative) can provide an informed perspective on how to best implement this promising new technology and measure its utility,” said Christian Marshall, Ph.D., co-director of the Centre for Genetic Medicine at the Hospital for Sick Children and chairperson for the Medical Genome Institute.
The Medical Genome Initiative will look at the best practices used in clinical and laboratory settings for the application of clinical whole genome sequencing and will initially focus on clinical whole genome sequencing analytical validity, clinical utility measures, clinical data infrastructure and data sharing.
“With the launch of this consortium, we’re bringing together clinical laboratory and medical genomics experts who are pioneering the application of (clinical whole genome sequencing) in routine clinical testing and clinical research for patients with genetic diseases,” said Marshall.
While evidence on clinical whole genome sequencing is positive, clinical laboratories and health systems lack the recommended best practices to inform test validation and deployment for genetic-disease populations, Marshall added.
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