ClinGen: A new era for genetic interpretation [news release]

ClinGen: A new era for genetic interpretation  – University of North Carolina

Jonathan Berg, MD, PhD, is a UNC Lineberger member and an assistant professor in the UNC School of Medicine. James P. Evans, MD, PhD, is a Lineberger member and the UNC School of Medicine Bryson Distinguished Professor of Genetics and Medicine. (Source: UNC)

From the 2 June 2015 news release

CHAPEL HILL – Millions of genetic variants have been discovered in the last 25 years, but interpreting the clinical impact of the differences in a person’s genome remains a major bottleneck in genomic medicine. In a paper published today in The New England Journal of Medicine, a consortium including investigators from the University of North Carolina School of Medicine and UNC Lineberger Comprehensive Cancer Center present ClinGen, a program launched to evaluate the clinical relevance of genetic variants for use in precision medicine and research.

“Sequencing has revealed that there are potentially several million genetic variants per person,” said Jonathan Berg, MD, PhD, a UNC Lineberger member, an assistant professor in the UNC School of Medicine Department of Genetics and this year’s ClinGen steering committee chair. “Right now there is a certain degree to which we can infer what those variants do, but most of them remain really beyond our understanding of how they are affecting human health, if at all. Through ClinGen, we’re working to evaluate the clinical relevance of genes and variants, and to provide a public database so that labs and clinicians will have a resource that they can go to as a way to understand their patients’ genetic testing results.”

Clinicians and researchers hope to use information about genetic variants not only to make predictions about an individual’s risk of disease, but also to develop more accurate clinical trials and better, tailored treatments and care for patients. However, labs and clinicians may interpret the same variant differently.

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