1:00 - 1:20 pmSaturday, September 17
LK 102
GenomeConnect - making connections and engaging patients in genomic discovery
LK 102
GenomeConnect - making connections and engaging patients in genomic discovery
Geisingner Health System and GenomeConnect
Technological advances in genetic testing have allowed for an increasing number of genomic variants to be discovered in the human genome. Although awareness of the relationship between genetics and health... Read more

Description

Technological advances in genetic testing have allowed for an increasing number of genomic variants to be discovered in the human genome. Although awareness of the relationship between genetics and health has advanced in recent years, the impact of many variants on health and disease remains unclear. Consequently, many patients and families are the first to be identified with a given genetic change and experience an “N of 1” result – the situation where causality of a genetic variant cannot be determined if it has only been seen in a single person. They are turning to social media and other web resources to try to find others with the same genetic diagnosis or researchers studying their particular genetic change. GenomeConnect, an online patient registry developed as part of the NIH-funded Clinical Genome Resource (ClinGen) project, serves as a secure way for individuals and families to connect with one another and partner with researchers. 

GenomeConnect is open to anyone who has had any genetic testing, regardless of test results or diagnosis. Participation is completely online, so individuals can join from anywhere in the world. As of January 2016, the growing community currently includes 431 participants from 48 states and 21 countries. After consenting online, participants complete a health survey that collects detailed information about their health history. Participants have indicated a history of a variety of conditions including chromosome abnormalities, childhood and adult onset single gene disorders, mitochondrial conditions, and even those without a known diagnosis explaining their health history or healthy individuals who have undergone predictive, direct-to-consumer, or carrier testing. Finally, participants are asked to upload a copy of their genetic testing report and the GenomeConnect staff collects important information about any genetic variants in a standardized manner. In addition to variants in known disease causing genes, some participants have had genetic variants found in candidate genes, or genes that have not been associated with a known condition. 

By enrolling in GenomeConnect, participants have the ability to connect with other individuals, clinicians, and researchers. Using the secure online portal, participants can search for others based on diagnosis, age, and other demographics. Participants also can elect to receive information about clinicians, laboratories, or researchers trying to connect with them. Individuals with variants in candidate genes also can connect through GenomeConnect’s involvement in Matchmaker Exchange, a tool for patients, clinicians, and researchers to search for genetic and phenotypic matches in an effort to determine if a genetic variant in a candidate gene is the explanation for a particular condition. 

GenomeConnect also provides a means for patients to actively contribute to genomic discovery, fostering a better understanding of the relationship between genetics and disease. Collaborative efforts to encourage the sharing and public availability of genomic information have resulted in a number of clinical and research laboratories contributing genetic data to publicly available databases. Often times, however, these laboratories do not have access to critical phenotype information that could aid in interpreting these variants. After participants complete their health survey and upload their genetic testing report, their genetic and health information are prepared for de-identified data sharing with approved, public databases to facilitate interpretation of genetic variants. Overall, GenomeConnect provides a means for participants to connect with others while providing clinicians, laboratories, and researchers with genetic and health information that will allow for advances in genomic medicine. This presentation will focus on the importance of data sharing, how patients can play an integral role in data sharing efforts, and how registries such as GenomeConnect enable patients to become active partners in data sharing and genomic discovery. 

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