Determining the proper interpretation of DNA changes is often difficult. As new types of genetic tests are developed, more DNA changes are being detected. Laboratories and researchers often look at published literature to help them determine the interpretation for a particular change, but many of these changes have little information publically available regarding their consequences. Some laboratories and researchers have access to databases of DNA changes that they can use to determine if a change had been seen before but perhaps not reported in the literature, but these are not all publically available and can sometimes contain incorrect information.
The Clinical Genome Resource (ClinGen), funded by the National Institutes of Health (NIH), will create tools and resources to help us understand how genetic changes affect human health. We will focus on:
Sharing Data: ClinGen encourages laboratories, physicians, and patients to share genomic and health information with the public, through resources such as ClinVar. ClinVar is a free, publically available database of DNA changes, their clinical interpretations (benign, mutation, variant of uncertain significance), and the evidence supporting these clinical interpretations. Results from genetic tests performed in laboratories around the world will be deidentified and stored within ClinVar, a publically available database operated by the National Center for Biotechnology Information (NCBI).
Building Knowledge: ClinGen will assemble groups of expert curators to review publically available information and determine which genes are important to human health, which changes in those genes actually cause disease, and which of these gene/disease pairs are most important for clinical care. We will also explore ways to automate these processes to allow us increase our output over time. All information generated by the ClinGen project will be made publically available to further public knowledge.
Improving Care: By identifying which genes and DNA changes are most important to patient care, we will move closer to the promise of personalized medicine. ClinGen will work to make this information readily available to clinicians through electronic health records.
This project will also help us to rapidly accumulate more information regarding DNA changes, contributing to our knowledge base regarding the effects of genetics on human health and disease.
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.