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DANVILLE, Pa. – How do we know when a change in one of your genes can cause a disease? What evidence is required? How strong does that evidence have to be? 

These are questions experts in the field of genomics are still grappling with, and the usefulness of genetic information in health care depends partly on the answers.

Until now there have been limited ways to answer these questions. Geisinger geneticists, along with other leading experts in the field under the National Institutes of Health-funded Clinical Genome Resource project (ClinGen), have developed a standardized framework for making these kinds of decisions.

Published today in the peer-reviewed journal American Journal of Human Genetics, the new standard lays out a potential path for moving forward to evaluate the thousands of potentially disease-causing genes that have yet to be scrutinized.

“Getting it right is of the utmost importance,” said Christa L. Martin, Ph.D., director of Geisinger’s Autism & Developmental Medicine Institute (ADMI) and a co-author on the paper. “The wrong determination could lead to incorrect patient care and cause geneticists to overestimate the association between a change in a gene and a disease before all the evidence is in.”

Of the 20,000 protein-coding genes, currently only about 3,000 have been reported in association with an inherited genetic disease. With genetic testing becoming increasingly common, doctors and other health care providers need to know what disease could result from a change in a particular gene in order to better interpret genetic results and manage patient care.

The newly published standard lays out a framework for combining evidence from the published literature and other resources along with expert analysis to assign graded categories to a gene to determine if there is strong enough evidence to connect a particular gene with a particular disease. The process also includes feedback loops for re-assessing genes over time as new scientific evidence accumulates.  

“Developing a standard for making these decisions is important not only for future routine health care, but for large community or national research population health programs,” said Erin Riggs, assistant professor at Geisinger’s ADMI and another co-author.

About Geisinger
Geisinger Health System is an integrated health services organization widely recognized for its innovative use of the electronic health record and the development of innovative care delivery models such as ProvenHealth Navigator® and ProvenCare®. As one of the nation’s largest health service organizations, Geisinger serves more than 3 million residents throughout 45 counties in central, south-central and northeast Pennsylvania, and also in southern New Jersey with the addition of AtlantiCare, a National Malcolm Baldrige Award recipient. The physician-led system is comprised of approximately 30,000 employees, including nearly 1,600 employed physicians, 12 hospital campuses, two research centers and a 551,000-member health plan, all of which leverage an estimated $10.5 billion positive impact on the Pennsylvania and New Jersey economy. Geisinger has repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit, or follow the latest Geisinger news and more on Twitter and Facebook