title: GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.
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.
authors.affiliation: Geisinger Health System, Danville, Pennsylvania.
authors.forename: Brianne E
authors.initials: BE
authors.lastname: Kirkpatrick
authors.affiliation: Geisinger Health System, Danville, Pennsylvania.
authors.forename: Erin Rooney
authors.initials: ER
authors.lastname: Riggs
authors.affiliation: Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.
authors.forename: Danielle R
authors.initials: DR
authors.lastname: Azzariti
authors.affiliation: PatientCrossroads, San Mateo, California.
authors.forename: Vanessa Rangel
authors.initials: VR
authors.lastname: Miller
authors.affiliation: Geisinger Health System, Danville, Pennsylvania.
authors.forename: David H
authors.initials: DH
authors.lastname: Ledbetter
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.|Claritas Genomics, Cambridge, Massachusetts.
authors.forename: David T
authors.initials: DT
authors.lastname: Miller
authors.affiliation: Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.|The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.|Harvard Medical School, Boston, Massachusetts.|Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.
authors.forename: Heidi
authors.initials: H
authors.lastname: Rehm
authors.affiliation: Geisinger Health System, Danville, Pennsylvania.
authors.forename: Christa Lese
authors.initials: CL
authors.lastname: Martin
authors.affiliation: Geisinger Health System, Danville, Pennsylvania.
authors.forename: W Andrew
authors.initials: WA
authors.lastname: Faucett
mesh_terms: D016208:Databases, Factual; D004194:Disease / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D033181:Information Dissemination / Q000379:methods*; D010358:Patient Participation; D010641:Phenotype; D057285:Precision Medicine; D014584:User-Computer Interface
keywords: data sharing; genotype/phenotype; matchmaker exchange; patient portal; patient registry