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Hum Mutat. 2015 Oct;36(10):974-8. doi: 10.1002/humu.22838. Epub 2015 Aug 6.

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.

Author information

1
Geisinger Health System, Danville, Pennsylvania.
2
Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.
3
PatientCrossroads, San Mateo, California.
4
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
5
Claritas Genomics, Cambridge, Massachusetts.
6
The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.
7
Harvard Medical School, Boston, Massachusetts.
8
Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.

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.

KEYWORDS:

data sharing; genotype/phenotype; matchmaker exchange; patient portal; patient registry

PMID:
26178529
PMCID:
PMC4575269
DOI:
10.1002/humu.22838
[Indexed for MEDLINE]
Free PMC Article
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