Exclusive gene patent on BRCA: Adding burden to an already overburdened community

The United States Patent and Trademark Office (USPTO) is gathering information on the impact of gene patenting on genetic diagnostic in order to prepare a report to Congress under the America Invents Act. The USPTO is soliciting public commentary on this important issue by organizing public hearings. This past Thursday, Lisa Schlager, Vice President of Community Affairs and Public Policy testified on our behalf. It is our position that the awarding of an exclusive patent for the BRCA 1 and BRCA 2 gene to Myriad Genetics has adversely affected access to care and research specific to hereditary breast and ovarian cancer adding additional burden to our already overburdened hereditary cancer community. You can read our more on our testimony here and our summary on the issue on our USPTO advocacy page.

In our thirteen years of advocating for and serving the hereditary cancer community, we have seen firsthand the adverse affects from exclusive gene patenting. We testified that:

• Exclusive licensing of BRCA testing stifles research, including:
  • Research on PARP inhibitors, targeted therapy for BRCA-associated cancer: 
    Although PARP inhibitor research has been promising, seven years later the drugs have yet to gain FDA approval.  In a meeting with the FDA, FORCE was told that for targeted therapies that benefit a distinct population, (such as people with a BRCA mutation) to gain FDA approval, any companion laboratory test identifying the target population must be FDA approved as well. BRACAnalysis—Myriad’s test for BRCA mutations is NOT FDA approved. Myriad is a CLIA‐approved laboratory; they were never required to receive FDA approval in order to market their test, and it doesn’t appear that they currently have plans to seek FDA approval. Because Myriad holds the patent on the gene, no other lab can develop an FDA‐approved test to identify BRCA mutation carriers.  As a result, drug companies have opened up registration studies for the wider breast and ovarian cancer populations—comprised mostly of people who do not carry BRCA mutations. The two largest registration trials didn’t meet primary end‐points, likely due to the broader study population chosen. This has delayed development and approval of these agents.
  • Research that helps determine which BRCA genetic changes are deleterious and which are not
    BIC (Breast Information Core) is a large international consortium organized by the National Human Genome Research Institute (NHGRI), which is part of the National Institutes of Health.  BIC’s goal is to provide critical research to determine gene changes that may be cancer‐causing vs. those which aren’t. Around 2004, Myriad stopped contributing data to the BIC database.  About 7% of BRCA tests return with an inconclusive result and data from BIC is used to help better classify these variants to determine if they are cancer‐causing. According to a 2010 article in the Genomics Law Report, the company [Myriad] quietly stopped contributing data [to BIC] in favor of building its own database to retain a competitive advantage over other gene testing companies once their patent runs out.
• Exclusive licensing negatively impacts BRCA test interpretation
  Myriad no longer contributing to the BIC database has impeded the interpretation of a type of test known as a Variant of Uncertain Significance (VUS). Once the patent does expire, the fact that Myriad no longer contributes mutation information to the BIC consortium will limit other laboratories’ ability to interpret certain test results. According to a 2011 article from the New York Times, withholding this data may provide a competitive benefit to Myriad over other laboratories after their patent expires. But it comes at the cost of critical information that could help provide information to families that have inconclusive genetic test results right now.
  
• The excessive cost of testing limits access and negatively affects clinical care
  There is now evidence-based information demonstrating that identifying those who have the highest risk for breast and ovarian cancer can lower breast, ovarian, and all-cause mortality through genetic testing and surgical prevention. The cost of prevention, both in dollars and human lives, is less than the cost of treating cancer once it is diagnosed. Yet, people are being denied access to critical health information due to the excessive cost of BRCA testing. Financial assistance for BRCA testing is limited, especially for people who have any type of health insurance.With patent exclusivity and a monopoly on the test, Myriad has increased the cost of their test even as the cost of genetic technology and gene sequencing has gone down. Due to the exorbitant price, some insurers are no longer covering the cost of BRCA testing.

FORCE asked the USPTO to place a moratorium on issuing further gene patents until the impact on access to care and research had been better studied. Additionally, in 2010, the Secretary’s Advisory Committee on Genetics Health and Society (a panel of experts convened through NIH to report to the Secretary of Health on issues related to genetics and health care) submitted a report to Secretary of Health Sebelius on the topic of gene patenting. We encouraged the USPTO to adopt, or at the very least, to cite the SACGHS recommendations when reporting to Congress on the results of their hearings.

The USPTO will be convening a second public hearing on Friday, March 9, 2012, beginning at 9 a.m., Pacific Standard Time (PST), and ending at 4 p.m. in San Diego, California. Testimony from both hearings will be available via webcast on the USPTO website. They are also accepting written public commentary sent by email to genetest@uspto.gov.

We would like to hear what you think about this issue. Please fill out our short survey and share your opinions on the impact of exclusive patents on BRCA or other genes.

Comments Submitted to the Secretary’s Advisory Committee on Genetics Health and Society

Yesterday I had the honor of being asked to submit public commentary to the Secretary’s Advisory Committee on Genetics Health and Society.  This committee reports to the Secretary of Health and tackles the emerging and challenging issues being faced as genetic research expands at a rapid pace.  The committee seemed very interested in my statement and members of the committee had positive comments about FORCE and the role we play as an organization advocating for people and families affected by hereditary cancer.  Unfortunately even with a growing number of genetic tests becoming available, there are large regulatory gaps that allow tests that have not be validated to be marketed to consumers without any governing agency overseeing the information being transmitted to consumers.  This is very different from the situation with pharmaceutical agents where the FDA has a role not only in determining what medications are available, but also in overseeing what manufacturers can say about their products, how they are marketed, and in tracking adverse events caused by the product.

Below is a summary of the comments I presented.

 

“I thank the Secretary’s Advisory Committee on Genetics, Health, and Society for inviting me to present comments.  I’m founder and Executive Director of the national nonprofit organization Facing Our Risk of Cancer Empowered (FORCE), an organization devoted to improving the lives of individuals and families affected by hereditary breast and ovarian cancer.  Part of our mission includes advocating for the health and wellbeing of our community affected by these cancers. The goal of my testimony is to alert the SACGHS of a growing issue regarding genetic testing that seems to be increasing in frequency and is taking a toll on the community that I serve and to remind you that people are making real-life decisions based on genetic test results.

 

Unfortunately, once a test is offered to the public, consumers assume and expect that the test has been validated, has gone through an FDA approval process, has clinical utility, and any marketing claims must be true.  The lack of government oversight on laboratory tests by CLIA-approved laboratories is leaving a large knowledge and regulatory gap that is being filled in by parties not necessarily acting in the best interest of consumers.  Lack of government oversight with regards to appropriate genetic testing and assuring access to genetics experts:

• Leads to wasted healthcare spending as inappropriate tests are ordered and improperly interpreted
• Leads to consumer harm as people are being given inappropriate or incorrect information about the meaning of a genetic test results
• Denies consumers information about standards-of-care and denies them the ability to report adverse events or circumstances

At FORCE we have begun to document adverse outcomes in cases where people were not given access to, nor made aware of the option of consulting with an expert in cancer genetics prior to testing. This includes cases where people were told their tests were negative when they were positive, positive genetic tests being disclosed to people while driving, full-sequencing genetic testing being ordered when a single-site test was appropriate, and a recent case where the wrong test was ordered leading a woman to believe she was BRCA negative, when she was actually BRCA positive. This particular woman chose a lumpectomy and radiation over mastectomy based on the negative test result. 

An alarming (but perhaps easily remedied) aspect of the situation is that the above situations can be linked back to actions and communications from the companies doing the testing:

• At more than one conference I listened as genetic testing company exhibitors presented to health care professionals that “you don’t need to refer a patient to a genetics expert first.  You can order the test and if they positive you can then refer them if they want.”
• At a professional society meeting for oncology nurses about genetic testing in physicians’ offices (which was sponsored and entirely moderated and organized by a genetics lab) one panelist held up an educational piece prepared by the sponsor and stated, “This is all you need to begin genetic testing in your practice.”  That particular piece only discussed the genetic tests that were offered by that lab and had no discussion on other genetic tests or hereditary conditions which might have been equally or even more appropriate for patients.
• Recently I participated in a panel and listened in shock as one panel member representing a DTC genetic testing portal boasted of how her company gives patients access to genetic tests that were not recommended by their physician and which they provide outside of standard-of-care recommendations.  It is unclear how a physician could interpret the off-label use of a test they didn’t think was medically necessary and how the patient might use such results to make medical decisions absent of any clear guidelines or supportive research. 
• At the same panel discussion on direct-to-consumer testing, one genetics expert in the audience likened this scenario to the proverbial “fox guarding the henhouse.” 

Government intervention and implementation of the following will help alleviate the problem:

• More oversight of, and at least one agency with jurisdiction over genetic tests and how they are marketed to consumers and physicians.  Consumer stakeholder input should be included if possible.
• Consumers need to know about and be given access to trained experts in genetics, and any published standard-of-care guidelines if available on the genetic condition in question. It should not be up to the laboratory to determine who is or is not competent to order and interpret genetic tests
• Laboratories need to be held accountable for their marketing materials for consumers and physicians with regards to genetic tests
• We need an agency to track adverse events with regards to genetic tests

It should not be up to the test developers to govern themselves or determine the appropriate amount of information, nor to designate the minimal competency for conveying this information.

Thank you for your time and attention.”