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.

Keywords: data sharing; genotype/phenotype; matchmaker exchange; patient portal; patient registry.

Figure 1

Sources of Data for Open Sharing. The sources of information for genomic databases like ClinVar are varied. GenomeConnect enables patients, who have copies of their genetic test reports and are valuable sources of rich phenotypic data, to be contributors of information.

Figure 2

Participant Engagement Experience in GenomeConnect. This figure highlights the process a participant undergoes to join and participate in GenomeConnect. A participant logged into their account sees which steps require their attention. They receive email notifications from GenomeConnect if there is a survey to complete or research opportunity to consider in a manner that protects their privacy. A re-linking code is maintained by GenomeConnect for controlled recontacting of participants. Participants determine if they wish to receive any invitations from researchers or participants and if they agree, they then respond individually to each request.

Figure 3

Bi-directional Communication in GenomeConnect. GenomeConnect maintains two-way communication with the various parties involved. For example, laboratories are notified when reports from their lab are uploaded by GenomeConnect participants, and those desiring further phenotype data are able to request further information, helping them to improve test interpretation. GenomeConnect staff maintain email communication and communication via the participant portals to alert participants to health surveys available for them to complete and notifications of others desiring contact with them. Participants maintain control over the invitations and surveys to which they respond.