GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

• Published in: Human mutation Vol. 36; no. 10; pp. 974 - 978
• Main Authors: Kirkpatrick, Brianne E., Riggs, Erin Rooney, Azzariti, Danielle R., Miller, Vanessa Rangel, Ledbetter, David H., Miller, David T., Rehm, Heidi, Martin, Christa Lese, Faucett, W. Andrew
• Format: Journal Article
• Language: English
• Published: United States Hindawi Limited 01.10.2015
• Subjects: data sharing; Databases, Factual; Disease - genetics; Genetic Predisposition to Disease; Genetic testing; Genome, Human; Genomics; genotype/phenotype; Humans; Information Dissemination - methods; Laboratories; matchmaker exchange; Patient Participation; patient portal; patient registry; Patients; Phenotype; Precision Medicine; User-Computer Interface; genotype/phenotype; patient portal; matchmaker exchange; patient registry; data sharing
• ISSN: 1059-7794; 1098-1004; 1098-1004
• DOI: 10.1002/humu.22838

ABSTRACT As the utility of genetic and genomic testing in healthcare grows, there is need for a high‐quality genomic knowledge base to improve the clinical interpretation of genomic variants. Active patient engagement can enhance communication between clinicians, patients, and researchers, contributing to knowledge building. It also encourages data sharing by patients and increases the data available for clinicians to incorporate into individualized patient care, clinical laboratories to utilize in test interpretation, and investigators to use for research. GenomeConnect is a patient portal supported by the Clinical Genome Resource (ClinGen), providing an opportunity for patients to add to the knowledge base by securely sharing their health history and genetic test results. Data can be matched with queries from clinicians, laboratory personnel, and researchers to better interpret the results of genetic testing and build a foundation to support genomic medicine. Participation is online, allowing patients to contribute regardless of location. GenomeConnect supports longitudinal, detailed clinical phenotyping and robust “matching” among research and clinical communities. Phenotype data are gathered using online health questionnaires; genotype data are obtained from genetic test reports uploaded by participants and curated by staff. GenomeConnect empowers patients to actively participate in the improvement of genomic test interpretation and clinical utility. GenomeConnect is a project supported by the Clinical Genome Resource (ClinGen) providing the opportunity for patients to add to the genomics knowledge base by securely sharing health history and genetic test results. This paper covers a variety of topics including project development, the special roles of patients and laboratories, the relationship between GenomeConnect and the ClinVar database, the matchmaking capabilities of GenomeConnect, and the partnerships that GenomeConnect helps to form to increase data sharing and advance precision medicine.