Free Our Genetic Data

Last month the Supreme Court ruled that patents on genes were invalid, endorsing the case I helped the American Civil Liberties Union make against Myriad Genetics. The company had patented the sequences for two human genes, BRCA1 and BRCA2, that when mutated are linked to breast and ovarian cancers. Until the Court’s decision, Myriad had a monopoly on testing for those genes in the U.S.

Myriad no longer has that monopoly, but our work to prevent corporate intellectual property claims on genetic information from harming patients and research is not over. Myriad is now using the dominant position it built up to construct a private database of the genetic variants found in patients that took the BRCA test. This unparalleled record of the natural variation in these important genes, collected from patients, is claimed to be Myriad’s own intellectual property.

This is a particularly dangerous outcome of the company’s dominant position. Doctors can’t assess the significance of gene variants found in their patients through genetic testing without free exchange of information. Imagine if radiological images or histopathology slides of cancers were examined by a single monopoly holder without the medical community being able to assess and learn from what these images and tissue specimens teach us.

Myriad’s database prevents patients from easily getting second opinions on diagnoses made based on the company’s BRCA tests. Other U.S. companies can now offer similar tests, but checking the validity of the result of a gene test is only one part of a second opinion. Patients also need to be able to seek confirmation that the variant they have really does mean what the testing laboratory says it means. That can’t happen if Myriad—or any other company—is the only one with data on the variants of a gene that exist and their associations.

Having clinical reports locked up in a single laboratory, treated as intellectual property, with a black-box, nontransparent protocol for assessing the clinical significance of these variants is not good medicine.

Late last year, I launched an effort called the Sharing Clinical Reports Project, a grass-roots, volunteer effort to have doctors and patients work together to free valuable data from BRCA1 and BRCA2 test reports. Colleagues of mine who see patients at hereditary cancer clinics remove identifying details from BRCA1 and BRCA2 test reports and place them—along with Myriad’s interpretation of the results—into the public ClinVar database. Run by the National Center for Biotechnology Information, ClinVar aggregates information about genetic variation and its relationship to human health.

Sharing Clinical Reports has now added over 6,000 thousand reports on BRCA1/2 tests and is in the process of enlisting cooperation from clinics around the country to add tens of thousands more over the coming year.

In this way we hope to allow clinicians and geneticists to access the valuable data and interpretations Myriad has collected about what BRCA variants mean, and that should help patients. This is not my opinion alone. The American Medical Associations’s House of Delegates adopted a resolution in 2009 stating that:

“Physicians have ethical responsibilities not only to learn from but also, when possible, to contribute to the total store of scientific knowledge. Physicians should strive to advance medical science and make their achievements known through publication or other means of disseminating such information. This encourages physicians to innovate and to share ensuing advances to patients, colleagues, and the public. The use of patents, trade secrets, confidentiality agreements, or other means to limit the availability of medical procedures places significant limitation on the dissemination of medical knowledge, and is therefore unethical.”

A newer AMA resolution passed in June 2013 that calls for the public release of all genetic testing variant information in a manner consistent with privacy and HIPAA protections. The medical community is on record in support of these efforts and against private databases that limit the dissemination of medical knowledge.

The battle against gene patents may be over, but we must continue to prevent the use of other intellectual property tactics to monopolize data vital to enabling researchers and clinicians to help patients.

Robert Nussbaum is a professor in the department of medicine and the Institute of Human Genetics and chief of the Division of Genomic Medicine at the University of California, San Francisco. He worked as an expert with the American Civil Liberties Union team whose lawsuit challenging Myriad’s gene patents won in the Supreme Court in June 2013.