GenomeConnect is part of the larger ClinGen effort that I began to discuss last week, but this aspect is specifically a portal for patients who have (or may get) genetic testing results of various types. The ClinGen team will use this interface to capture the testing data–the genotypes, and the health history, or phenotypes, and they want the patients to feel like active partners in the use of the information with doctors and researchers. It also allows patients to connect with others who have similar medical history or diagnoses. The participation details page notes that this is all de-identified, and that participants can choose which types of inquiries to respond to later.
This week’s video provides details about the goals of this piece of the project (see screen shot). Adults and children (with guardian consent) can be included [there’s a brochure with that note, PDF]. They also specifically note that you don’t have to have a genetic diagnosis yet. They also show examples of the kind of health survey data they will collect from participants. They also note that they intend to maintain contact with participants, in case they need to clarify or update issues in the records, or potentially involve them in future studies. You can log back in to change health data if your health changes over time. They will include single gene testing results, disease panels, whole exome or genome sequencing, karyotypes, chromosomal microarrays, or GWAS. The input data will be curated by trained Genome Connect professionals, and de-identified data will be shared with other participants if you choose. They say that currently they cannot get submission information directly from health care providers, but that may be a direction they add in the future.
Getting patients involved, and delivering real benefits to them, will be crucial for acceptance and adoption of genomics. And it may advance research by connecting investigators with families who wish to participate in studies. But there are a lot of barriers. This week I was watching the NHGRI’s meeting: Genomic Medicine Meeting VIII: NHGRI’s Genomic Medicine Portfolio (GM8) #GenomicMed8. I was surprised at how much of the discussion was devoted to getting payers to cover the sequencing and testing. This included both insurance systems US-style, but also national payer systems (there were representatives from Canada, the EU, etc there too). Consenting (and re-consenting later for future research) was also discussed. Counseling access can be a problem. There was a whole segment on the second day on these issues, but they kept coming up interspersed in all the other discussions too. GenomeConnect was one of the named projects in an overview of patient-facing tools. Others included Genetics Home Reference, Cancer Genetics PDQ, Genetic Alliance, MEDLINEPlus, NORD / GARD, and OrphaNet. Other tools that were aimed more at explanation of results included LabTestsOnline, MyResults, YourGenome, and My46. All of these have different scope and features, of course, and some are limited to certain research or treatment facilities. But more efforts continue to be developed to get people involved in research and effective use of genomic information for health.
GenomeConnect overview and more details at the ClinGen site: http://clinicalgenome.org/genomeconnect/for-participants/what-is-genomeconnect/
GenomeConnect site for patients: GenomeConnect.org
If you want to provide information to patients about this resource, there are details and flyers and such here: http://clinicalgenome.org/genomeconnect/for-providers/
Rehm, H., Berg, J., Brooks, L., Bustamante, C., Evans, J., Landrum, M., Ledbetter, D., Maglott, D., Martin, C., Nussbaum, R., Plon, S., Ramos, E., Sherry, S., & Watson, M. (2015). ClinGen — The Clinical Genome Resource New England Journal of Medicine DOI: 10.1056/NEJMsr1406261