Frequently Asked Questions
Genetic testing laboratories produce hundreds of thousands of genetic testing reports every year. However, since these reports aren’t published in research journals genetic testing data about variants and their clinical significance often isn't available in the public domain. Free the Data wants to change this. Clinical laboratories need this data to inform and improve interpretations of genetic testing results, which are of great importance to patients and their physicians. Investigators need this data to improve our understanding of the causes of different diseases, and drive research into better testing and treatment. As part of Free the Data's effort to make this data available in the public domain, we urge laboratories that offer BRCA1 and 2 testing to share genetic testing data with ClinVar.
This letter is addressed to labs who offer genetic testing for the BRCA1 and 2 genes but do not currently share that data with ClinVar. For a list of labs who already share BRCA1/2 data with ClinVar, please visit our hall of fame!
Other data sharing projects are also working to share genetic variants with open access databases, and while we encourage laboratories to support these efforts by sharing all of their genetic variant data directly with ClinVar, we also commend the labs who participate in these efforts!
Interested in learning more about other data sharing projects? Try visting the websites of the Clinical Genome Resource Project, the Global Alliance for Genomic Health, the Canadian Open Genetics Repository, or the PROMPT Initative.
Free the Data currently focuses its efforts on the BRCA1 and 2 genes, which occupy a unique position in the genetic testing landscape. Until recently there were strict limitations on who could and couldn’t offer clinical testing for BRCA1/2 in the United States. While some of these restrictions have been lifted since the Supreme Court ruling on gene patenting in 2013, one company still owns nearly all the data about these genes. This data is not available to other genetic testing labs, so it is difficult for labs and clinicians to compare results and seek second opinions. This is especially problematic for variants of unknown significance (variants whose effect on human health is not yet known).
The BRCA1/2 genes are an extreme case of a problem that exists for many other genes as well: genetic testing data is not readily available, and this makes it hard for labs to compare interpretations and conduct research. This is why our letter encourages genetic testing laboratories to share data for all the genes they test.
ClinVar is a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH). ClinVar archives genetic testing data, from information on genetic variants and their expression to information about genetic variants’ relationship to human health.
While many other data sharing projects and databases exist, ClinVar provides a centralized resource for genetic variant data where projects can come together. Using centralized resources such as ClinVar will help to eliminate data silos and facilitate collaboration in research and medicine.
A lot! We believe that better health through open access to genetic testing data and other health information depends on the participation of many parties. In addition to asking clinical laboratories to share their data with ClinVar we are also asking individuals to take part. Women and men are invited to share their BRCA1 and 2 reports through Free the Data, together with data about their health. Our innovative PEER platform*, Platform for Engaging Everyone Responsibly, allows individuals to choose personalized privacy settings and share health data in a safe way. Individuals upload their anonymous BRCA1/2 reports and answer related health questions about breast and ovarian cancer. Free the Data then shares reports with ClinVar. Researchers and labs that view the reports in ClinVar can access users’ health data in PEER… but only if those users have allowed it. Users choose who can or cannot see their data, and who must ask first.
Free the Data is not just for individuals who have received genetic testing for BRCA1/2, however: we need your help to spread the word! We invite organizations and individuals to join the coalition to Free the Data, and work with us to build an open access resource of genetic variation and phenotypic information that accommodates different attitudes about data sharing.
*The PEER platform is a product from Free the Data partners Genetic Alliance and Private Access.
Other questions? Contact us!
Ready to sign on? Go back to Free the Data's Letter to Labs.