By Nathan Eddy, Healthcare IT News | February 27, 2019
Health and research entities to advance genome sequencing for disease diagnosis.
A consortium of eight health care and research organizations in the U.S. and Canada, including the Mayo Clinic and the Broad Institute of MIT and Harvard announced the launch of the Medical Genome Initiative.
WHY IT MATTERS
The initiative will work to expand access to clinical whole genome sequencing (cWGS) for the diagnosis of genetic diseases, with a focus on the publication of common laboratory and clinical best practices for the application of cWGS.
Clinical whole genome sequencing is the laboratory process of sequencing all 3 billion base pairs in the human genome to identify a disease-causing mutation, and has the potential to reduce the number of unresolved pediatric rare genetic disease cases–especially when utilized as a first-tier clinical test.
Evidence indicates early utilization of cWGS could deliver precise molecular diagnosis to enable change in medical management, thus reducing the number of unresolved, complex, costly and chronic genetic disease cases, especially for newborns and children.
THE BIGGER TREND
Rare genetic diseases affect more than 350 million people globally and are a particularly significant source of mortality among children, according to a report from non-profit rare disease research advocate Global Genes.
In addition to cWGS analytical validity, initial topic areas of focus for the Initiative include 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 cWGS in routine clinical testing and clinical research for patients with genetic diseases,” Christian Marshall, co-director of the Centre for Genetic Medicine at SickKids and chairperson of the Medical Genome Initiative, said in a statement.
Marshal added that while emerging evidence on cWGS is positive, 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,” he continued.
OTHER PARTICIPANTS
Among the other founding member institutions of the initiative are Baylor Genetics, the HudsonAlpha Institute for Biotechnology, sequencing and array technologies specialist Illumina, Rady Children’s Institute for Genomic Medicine, the Hospital for Sick Children in Toronto and Stanford Medicine.
In December researchers at HudsonAlpha pinpointed a previously unknown cause of a serious seizure disorder most common in babies, potentially opening the door to new diagnostic and treatment options for infants that show signs of epilepsy.
They identified a variant that cues a poisonous piece of genetic code, called a poison exon, to be included in the final instructions for making a crucial protein — the findings were published in the American Journal of Human Genetics.