Free the Data – an Open Genomics Research Platform of BRCA1 and BRCA2 Mutations
October 29, 2013 by Jennifer Cobb
A Data for Communities Grantee from Captricity
In spite of advances in cancer detection and treatment, we are still far from understanding what causes cancers, and how to prevent this devastating disease. The discovery linking mutations in the BRCA1 and BRCA2 genes with up to 10 percent of all breast cancers brought us one step closer to this understanding, but our knowledge is still far from complete. This uncertainty has led to hundreds of women making unnecessarily severe life choices, such as radical mastectomy, while hundreds more develop cancer that could have been prevented.
Since the genes were discovered, thousands of women have been tested. Their data could help shed light on many remaining questions and inform effective prevention and treatment methods. Until recently, data on the BRCA1 and BRCA2 genes was owned and locked away by Myriad, the company that discovered and patented the genes. That all changed in June of 2013 when the Supreme Court ruled it illegal to patent the genetic sequence of a healthy gene. The ruling in June meant that women can now get tested from a wide array of providers, increasing competition and lowering the cost of the tests. Testing is likely to become more widespread as a result. While overturning the patent does not mean that Myriad, or other companies, have to release results, it became clear that aggregating the results produced by different companies would generate significant value.
It was this insight that ushered in Free the Data, a coalition effort managed by Genetic Alliance, a non-profit committed to promoting an environment of opennesscentered on the health of individuals, families and communities. Free the Data, launched on October 29th during Breast Cancer Awareness Month, is an open, searchable database of genetic variants or the BRCA1 and BRCA2 mutations. This first of its kind initiative will allow clinicians to better understand the meaning of these genetic mutations, and empower women and men affected to make better-informed decisions. It also opens the possibility of collaboration between healthcare leaders and policy makers on understanding breast and ovarian cancer and providing higher quality patient care.
Captricity and Free the Data
There is one key wrinkle. All of the Myriad results, like 95% of all lab results, are only available as PDFs or paper forms. Captricity is proud to be partnering with Genetic Alliance to extract machine-readable information from the static forms. These forms include general information as well as test result data captured in a table, and a brief interpretation.
Captricity’s HIPAA-compliant data capture solution means that we can capture only the data that women have elected to share. For women who choose to also submit their clinical information, and have agreed to the appropriate privacy terms, Captricity will digitize this information as well, enabling a very rich research data set.
Accessibility of genetic data is expected to rapidly expand as the availability of genetic information increases and patentability decreases. The value of genetic information grows when it is aggregated and shared. Captricity is proud to be participating in this first-of-its-kind project. Congratulations to the team at the Genetic Alliance on their receipt of a Captricity Data for Communities grant.