Last week’s Supreme Court ruling that Myriad Genetics may not hold a patent on the BRCA gene marks a major milestone in the journey toward realizing personalized medicine and furthering the ability for meaningful patient empowerment.
The ruling is likely to speed the development of success in molecular medicine for a couple of reasons. First, this frees other companies to now develop new tests of those genes without having to obtain permission or pay royalty fees to a patent owner. Several companies have already announced their intent to offer BRCA testing at a price far less than Myriad’s BRCA Analysis test. But, second, this ruling also allows the development of clinical test to sequence multiple genes at once, without being hindered by the patents held on any of the genes to be sequenced–BRCA or hundreds of others. Most believe that the future of molecular medicine will soon include this sort of rapid and inexpensive whole genome testing.
BRCA1 gene testing in and of itself is an important molecular tool, as recently illustrated by Angelina Jolie. She described how she accessed BRCA testing, used those results to understand her risk for developing cancer, and made a personal choice to reduce that risk through preventive mastectomy.
Myriad Genetics was involved in each step of this story. By studying the genetics of subjects within families with a strong history of inherited breast and ovarian cancer, the BRCA1 gene was identified and cloned in 1994 by investigators working with and for Myriad. Over time, additional BRCA gene mutations were discovered, tests were developed to check for BRCA1/2 gene mutations, and data was assembled to track the outcome of patients found to have mutations of BRCA genes in order to better estimate the risk of developing cancer based on a given test result. We now know that a mutation in BRCA1 is associated with an >85% risk for developing breast cancer and >40% risk of developing ovarian cancer. The creation of this test and the data to interpret the results has profoundly changed the way a patient with a family history of cancer considers their risk and enables them to make the tough decisions about surgery to prevent future cancers.
The Supreme Court ruling did not change the ownership issues that surround the data obtained by Myriad (or other testing companies) assembled from the results of the thousands of individuals who have had their test. This data is extremely valuable to patients, as it enables more accurate interpretations of what a positive or negative test result may mean. Breaking down these data silos is the next important step in advancing personalized, molecular medicine. Recently, there have been major advances there as well. Just two weeks ago, a strong alliance aimed at allowing secure sharing of genomic and clinical data was announced to develop an “evidence base for biomedicine that is larger than any one party alone can develop” to improve the power of interpreting molecular test results.
Angelina Jolie’s Op-Ed had an important title: “My Medical Choice.” She was able to access the BRCA1/2 test, gain knowledge of not only the test result, such as a BRCA1 mutation, but also the data to interpret that result (87% risk of developing breast cancer), and make her own informed decision of electing preventative mastectomy. The LIVESTRONG Foundation supports efforts that increase access to molecular testing, develop methods to securely share the molecular and clinical data from thousands of cancer patients needed to interpret the results of molecular testing, and empower patients to obtain their own results and that shared data to make informed decisions about their care.