By Clinical Informatics News Staff 

October 24, 2014 | ClinGen, the NIH-funded consortium dedicated to aggregating and curating data from genetic testing labs to accelerate genomic medicine, this week launched the online GenomeConnect portal, letting individual patients directly contribute their medical histories and genetic data to the project. Information in GenomeConnect will be anonymized and made available to researchers to discover and confirm connections between genetic variants and a range of disorders, health risks and clinical phenotypes.

ClinGen is a response to a structural problem in the field of genomic health. Because testing occurs in a wide range of unconnected laboratories, insights from one lab are too rarely shared with others, making it difficult to assemble the large study populations needed to confirm clinical observations. (For a detailed look at this issue, see "As Genetics Moves to the Clinic, Pathogenic Variants Still Subject to Doubt and Debate.") GenomeConnect aims to enlist patients who have undergone genetic testing and want to contribute to a broadly-shared knowledge base, helping to make genetic tests more powerful and reliable in the future. Interested patients can upload the results of their testing, and answer a detailed health survey, which can be updated in the future to reflect health changes over time. Patients in GenomeConnect can also connect confidentially with one another based on shared medical and genetic factors, potentially making it a network for families dealing with rare disease to find one another. Patients' identities are never shared with anyone without their explicit consent.

GenomeConnect was created by a team at Geisinger Health System of Pennsylvania, one of the largest networks of hospitals and care centers in the country, which has established itself as a leader in genetic medicine and an active supporter of the ClinGen project. Geisinger announced earlier this year that it is pursuing its own massive sequencing project on 100,000 members of its patient population, in partnership with Regeneron. That project aims to connect genomic data with patients' electronic health records to generate new medical discoveries. (See "Regeneron Partners with Clinical Network on Large Genetic Study.")