Bringing Informed Interpretation to Vexing Variants

May 15, 2014
Bringing Informed Interpretation to Vexing Variants

Alex Philippidis

While the first traffic light flashed 18 years before the first car was built, the rules of the road have long lagged behind technology where genetic testing is concerned, especially in distinguishing functional gene variants from those that cause disease.

That is starting to change as groups of researchers and clinicians hammer out guidelines for statistically rigorous and evidence-based clinical interpretation of variants found through next-generation sequencing.

On April 23, a working group of 27 experts in genomic research, analysis, and clinical diagnostic sequencing convened in a 2012 workshop by the NIH’s National Human Genome Research Institute (NHGRI) published an open-access paper in Nature presenting its proposed guidelines for evaluating evidence supporting variant causality.

Daniel MacArthur, Ph.D., of Massachusetts General Hospital and Chris Gunter, Ph.D., of Marcus Autism Center and Emory University, led the working group in drawing up guidelines that cover evidence assessment for candidate disease genes and candidate pathogenic variants, as well as standards for reporting, publishing, and even sharing data.

The group listed priorities for research and infrastructure development: Developing standardized, quantitative statistical approaches for assigning probability of causation; large-scale genotyping of reported disease-causing variants; building public databases of those variants, with up-to-date supporting evidence, plus variant and allele frequency data from large, diverse population samples; and greater sharing of data by research and clinical labs.

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