This is a guest post by the GenomeConnect team.
Patients with new genetic diagnoses are increasingly turning to social media and other web resources to try and find other families with the same genetic diagnosis and research opportunities. GenomeConnect, an online patient registry developed as part of the National Institutes of Health funded Clinical Genome Resource (ClinGen) project, is a resource to help patients form connections and partner with researchers to make genomic advances possible.
Participation and enrollment in GenomeConnect are open to anyone that has had genetic testing, regardless of diagnosis or test result. Additionally, participation is completely online allowing individuals from around the world to participate. After completing the online consent process, participants are asked to complete a health survey that reviews each body system to capture basic health information. From there, participants are asked to upload their genetic testing report to allow GenomeConnect staff to capture important genomic information. After participants have shared their genetic and health information through the online portal, that information is prepared for de-identified sharing with approved, publicly available databases, such as NCBI’s ClinVar database, a repository for genomic variants.
Once enrolled, GenomeConnect participants have the ability to match with one another via the secure online portal to gain support and learn more about their/their children’s phenotypes. As Andy Faucett, Genetic Counselor and GenomeConnect Lead Investigator points out, “Giving participants the chance to connect with other individuals who have the same genetic change or a change in the same gene is one of the most requested registry features. GenomeConnect can provide this connection which is especially beneficial for conditions that do not have their own registry or those that do not collect genetic information.” Moreover, participants can potentially receive information through GenomeConnect staff about clinicians, laboratories, or researchers interested in connecting with them.
In addition to providing participants with a means to form connections with other individuals, clinicians, laboratories, and researchers, GenomeConnect also provides a way for patients to actively contribute to genomic discovery through data sharing. The paradigm in research has been shifting with patients becoming increasingly active participants and contributors to many areas of scientific inquiry. Now, those in genomic research have recognized the value and importance of partnering with patients and crowdsourcing information as they work towards making genomic discoveries possible.
Currently, more than 80 million variants have been discovered in the human genome, and, although our understanding of the relationship between genetics and health has advanced in recent years, we are still unable to interpret many variants’ impact on health and disease.1 In an effort to develop an authoritative source of information about clinical validity, pathogenicity, and actionability of the millions of identified genomic variants, researchers at more than 75 public, academic, and private institutions across the United States, including Baylor College of Medicine, Geisinger Health System, Harvard Medical School, Stanford University, and the University of North Carolina, are collaborating as part of the ClinGen project. The researchers involved in the ClinGen project recognize that, because many genomic variants are rare, facilitating the sharing of genomic and phenotype data is imperative if we are to understand the role these variants play in health and disease.
Through growing collaborative efforts which promote open sharing of genomic information, a number of clinical and research laboratories are now contributing data to ClinVar and other publicly available databases. Often times, however, the submitting laboratories do not have access to detailed phenotype information. As a clinical genetics laboratory director and a ClinGen Principal Investigator, Christa Lese Martin, PhD, FACMG explains, “Having detailed phenotypic information makes the classification of more variants possible, leading to improved clinical care for patients. Through GenomeConnect, patients can contribute to this process by directly providing vital information about their health.” The ClinGen Resource is invested in engaging patients as collaborators in genomic discovery through GenomeConnect and will continue to partner with individuals willing to register and share their genetic and health information to help us understand the genome.
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