GenomeConnect was developed by a team of Pennsylvania’s Geisinger Health System investigators and collaborators from the ClinGen project to establish an online patient community where people who previously had genetic testing can input their test results for analysis by the ClinGen team.
The online portal bolsters the ClinGen laboratory database (ClinVar) by coupling patient-entered health information with clinical laboratory data for a comprehensive database that helps clinicians and researchers better understand genetic variants and their impact on health. GenomeConnect also allows patients who underwent genetic testing to interact with each other in a secure online community.
"A data repository, even one as robust as ClinGen, is just the first piece of the pie when it comes to fully understanding the role genetics play in the prevention of disease and the development of treatments and therapies," said Andrew Faucett, director of policy and education, Geisinger Health System. "By allowing patients to input additional medical information, GenomeConnect is designed to empower patients and allow them to contribute to our understanding of the human genome. Together with patients, we can learn more about the human genome and the ability to re-establish contact with patients and request additional information about their health information is critical to the clinical use of genetic testing."
The Geisinger Genomic Council encourages the use of reference laboratories that have pledged to contribute past, present and future genomic data to national databases in an effort to increase medical knowledge and improve patient care.
"In order to advance patient care and continue genomic work to help improve the interpretation of genetic variants, it is vital that data from clinical testing be made publicly available while simultaneously respecting patient confidentiality," said Christa Lese Martin, a Principal Investigator of the ClinGen project and director of the Autism & Developmental Medicine Institute at Geisinger. "GenomeConnect honors both of these pledges and will pay long-term dividends in patient care by developing an unrivaled database of genetic and clinical information."
Patient portals like GenomeConnect make genomic discoveries possible by bringing together information from a large number of patients. The project is enrolling an unlimited number of participants with genetic test results and their family members, and participation takes place entirely online using a computer, smartphone or tablet.