By REBECCA NAGY, MS, CGC,
clinical associate professor of Human Genetics and president of the National Society of Genetic Counselors
On June 13, 2013, the United States Supreme Court ruled that naturally occurring DNA cannot be subject to patent. The unanimous decision ended a four-year court battle between the petitioners in the case, the Association for Molecular Pathology, and molecular genetic testing company Myriad Genetics Laboratories, Inc. Myriad Genetics has been the only laboratory offering clinical genetic testing for the BRCA1 and BRCA2 genes for almost two decades, after obtaining numerous patents on everything from test methodology to the DNA sequence itself.
The petitioners argued that genes are a product of nature and, thus, patents held by Myriad Genetics on the BRCA1 and BRCA2 sequence were invalid. The Court agreed, ending Myriad’s 17-year long monopoly on the BRCA genetic testing market.
The ruling has far-reaching consequences for patients, clinicians, researchers and the biotechnology industry. The impact was felt immediately in the clinic, where patients with a suspected elevated risk for breast, ovarian and other cancers receive genetic counseling and testing. Within hours of the decision several laboratories announced that they would immediately offer BRCA1 and BRCA2 testing at significantly lower prices.
With test costs dropping, more insurers may be willing to cover the service, which could give more patients access to testing. Testing may also be more comprehensive and provide a more complete risk profile. The BRCA1 and BRCA2 genes can now be included in multi-gene panel testing, in which multiple genes known to contribute to a specific disease are tested at the same time.
For hereditary breast and ovarian cancer, panel testing has been problematic since Myriad’s patents prevented the inclusion of the two genes responsible for the majority of the disease. This forced women who qualified for testing to do so in a step-wise fashion, testing for BRCA1 and BRCA2 first and, if negative, proceeding to additional panel testing, often at a total cost of $6,000-$8,000 or more.
Since the ruling, several laboratories have added the BRCA1 and BRCA2 genes to their panels, and patients can now have testing for about 25 different cancer genes at a cost less than that of BRCA1 and BRCA2 testing prior to the ruling.
Clinicians should proceed with caution, however. There is little or no clinical information available for many genes included in cancer genetic testing panels, and most do not have published practice guidelines to assist clinicians when they receive abnormal results. The rate of inconclusive or unclear results is significant, and interpretation can be challenging even for seasoned experts.
Pre-test counseling and risk assessment are also more complex. Clinicians will need to collect and review the family history, be familiar with the spectrum of cancers that might be associated with the various genes and their mutations, and then determine which test might provide the best assessment for that particular family.
Furthermore, it is critical to provide effective pre- and post-test genetic counseling and to interpret test results accurately. Individuals must receive correct and up-to-date information to help them make informed decisions, some of which are irreversible and life-changing. Many busy clinicians may also find it challenging to incorporate ever-changing genetic information into patient care. However, it is crucial that the benefits of increased access that may result from this ruling not be diminished by inappropriate genetic testing and misinterpreted results.
Exactly how the Supreme Court decision will affect the biotech industry remains unclear, and experts have come down on both sides. Those critical of the ruling claim it will stifle discovery and innovation. Those in favor claim that the ability to patent specific testing methods and synthetic DNA, such as cDNA, which remain patent-eligible, allows enough freedom for the diagnostic testing market to remain profitable.
Whatever the outcome, it is likely that the issue of patents as they apply to DNA and genetic testing methodology will come before the courts again. Indeed, on July 9, 2013, Myriad filed a lawsuit against two of the companies now offering BRCA1 and BRCA2 testing, claiming infringement on the remaining patents that were not challenged by the original lawsuit. One of these labs, Ambry Genetics, counter-sued Myriad, claiming violation of anti-trust laws. A preliminary hearing took place in early September.
Although the story of the BRCA1 and BRCA2 gene patents may not be over, this ruling is a victory for patients. Physicians and other healthcare providers can now offer patients more options to assess breast and ovarian cancer risk, and women with hereditary breast and ovarian cancer and their families now have greater access to high quality, affordable genetic testing.
BRCA1 and BRCA2
CANCER RISK AND GENETIC TESTING
- A woman’s risk of developing breast and/or ovarian cancer is greatly increased if she inherits a deleterious mutation in BRCA1 or BRCA2.
- Men with these mutations also have an increased risk of breast cancer, and both men and women who have harmful BRCA1 or BRCA2 mutations may be at increased risk of additional types of cancer.
- Genetic tests can check for BRCA1 and BRCA2 mutations in people with a family history of cancer that suggests the presence of a harmful mutation in one of these genes.
- If a harmful BRCA1 or BRCA2 mutation is found, options are available to help a person manage cancer risk.