Public-facing genetic registry launched

geneticA genomic research project funded by the National Institutes of Health (NIH) dedicated to finding which genetic variants are most relevant to patient care has launched a registry where people can enter de-identified information about their genetics.

The Clinical Genome Resource project has launched its GenomeConnect patient portal, the PharmGKB Blog reports. The patient portal, or registry, is a repository for voluntarily-provided genetic information that has been stripped of all personal identifiers, such as name, birthdate and contact details. Members of the public can enroll and, once a personal account is created, provide medical history information through a survey and upload genetic test results if available.

The overall goal of the project is to harness both research data and information collected from the hundreds of thousands of clinical genetic tests performed each year to advance knowledge of how genetics affect patient care. According to the GenomeConnect website:

“A patient portal (also called a registry) is a secure place for patients to voluntarily share and store detailed information, so that connections can be made between that information and healthcare providers and researchers who wish to study it. Registries make medical discoveries possible by bringing together information from a large number of patients.”

De-identified health and genetic information will be studied by Clinical Genome Resource staff and made available to interested researchers and select databases to allow the scientific community to learn from the data. The compiled information will help researchers interpret genomic data more accurately.

Personal identifying information, such as name, birthdate and contact information, will never be shared. GenomeConnect states that thay are “very serious about protecting the privacy of particpants.”

Why share this sort of information? Many pharmacogenetic studies are unable to draw conclusions on the effect of a certain genetic variant due to insufficient patient numbers. What’s more, including large numbers of patients in clinical trials can be overwhelmingly expensive and can hinder a site’s ability to conduct a desired study.

As the PharmGKB Blog writes, including this information in the GenomeConnect database allows it to be part of large-scale studies designed to further the understanding of the impacts of genetics on health. In addition, researchers can use the same pool of data to study different outcomes, which may help control costs and facilitate more studies. The more data made available, the more effectively researchers can identify patterns and draw conclusions.

The pharmacogenetic testing offered through the YouScript Personalized Prescribing System is just one type of genetic testing available on the market. Visit the Clinical Genome Resource project website for more information on how to get involved.