Cancer Genetic Testing Should Be Performed in the Health Care Setting

by Lisa Schlager

There is a flood of information available about genetic tests for cancer risk in the media, and even at community events, such as health fairs and senior centers. If these promotions have caught your attention and you are considering testing, there is important information that you should know first.

Facing Our Risk of Cancer Empowered (FORCE) is a national nonprofit organization that provides resources to help people make informed decisions about genetic testing for cancer risk. National standard-of-care guidelines recommend genetic counseling with a qualified expert before and after genetic testing. FORCE agrees that talking to a health care provider with expertise in cancer genetics pre- and post-genetic testing is important. This helps assure that:

  • The right test is performed (there are many available) at a reliable, high-quality lab.
  • Your results are interpreted correctly.
  • You receive accurate information about what the results mean and your medical options.

When genetic testing for cancer risk is conducted outside of a health care setting—as described below—the likelihood of misinformation is high, which could lead to harm.

Tests Sold in Non-Health Care Settings

Members of our community have reported sales representatives aggressively promoting genetic tests directly to consumers at health fairs, senior living facilities, on Facebook, and in other non-medical settings. These sales representatives have been evasive about the actual lab performing the testing and have provided misleading information, making false promises of “free” genetic testing to people who don’t qualify and billing insurance companies or Medicare for tests which may not be medically necessary.

BRCA Testing Through 23andMe

In March 2018, the FDA approved marketing of 23andMe’s test for the three BRCA mutations most commonly found in people of Ashkenazi Jewish ancestry. Over 6,000 different mutations—in BRCA1, BRCA2 and other genes—are associated with an increased risk of cancer. The 23andMe BRCA test only looks for three of these many mutations (two in BRCA1 and one in BRCA2). This extremely limited test may provide people with a misleading understanding of their cancer risk. (in 2018, FORCE released a public statement to educate people about the limitations and drawbacks of this test.)

The FDA label warns people not to use the 23andMe BRCA test results to make medical decisions, and advises individuals to have a confirmatory test with a clinically certified lab to assure accuracy of the results. The agency also emphasizes “it is important for patients to consult their health care professional who can help them understand…their individual cancer risk.”

Using Ancestry Testing Data to Calculate Cancer Risk

Many companies (Ancestry, MyHeritage, 23andMe, etc.) offer genetic testing to help people locate relatives or learn more about their ethnicity. These tests are intended for recreational purposes and not meant to guide medical decision-making. Some third-party online programs (Promethease or Livewello, for example) allow people to submit their ancestry test results to discover additional information about their risk for cancer and other diseases. Ancestry tests, however, often do not produce comprehensive, high-quality DNA data.

FORCE has received numerous reports of people receiving incorrect information about their cancer risk after running DNA results through a third-party tool. A study published in 2018 revealed a high number of false positives in this type of information; as a result, people incorrectly thought they had a genetic mutation that increased their risk for cancer, which they do not have.

Further, it is impossible to know how many people receive false negative results, leading them to believe that they do not have a predisposition to a disease such as cancer when, in fact, they do have a mutation that increases their risk.

Genetic Testing is Regulated

You have a right to know the name of the lab performing your genetic testing. Beware of
representatives selling genetic tests for unnamed labs. Genetic tests are currently regulated by the FDA and CLIA. When ordering lab work such as a genetic test, health care providers typically order them through a trusted, CLIA-certified lab, which is regularly evaluated for quality assurance. The FDA aims to ensure that test marketing materials and claims are accurate, and that they address the information needs of the approved audience—health care providers or the public. If you have concerns or a complaint about a laboratory, you or your health care provider can file a complaint with CLIA and/or the FDA.

Regulating the Next Generation of Genetic Tests

Gene sequencing – also known as genetic testing – is the process scientists use to analyze DNA in search of mutations and variations in an effort to discover more about the connection between genes and traits, health and disease. Since the discovery of BRCA 1 in 1994, the sequencing of genes to find mutations has held importance for people with cancer in their family. With advances in biomedical technology, scientists have developed ways to process thousand of genes at the same time (in parallel) and at lower cost than earlier sequencing methods. These next-generation – or “next-gen” – sequencing (NGS) methods have brought opportunities and challenges to the field of genetics. NGS has allowed the development of panel tests that can look for mutations in many genes, including newly identified genes that might increase cancer risk. One of the challenges involves developing regulations to ensure that the resulting information is of maximum benefit to consumers. Recently, the FDA conducted a forum seeking public input about how these tests might be regulated. FORCE attended and testified on this topic.

Benefits and Challenges of NGS: Genetic tests for cancer-causing gene mutations allow people to better understand their risk for cancer, and take appropriate proactive steps against the disease. The test for BRCA mutations was the first commercially available test to help people make informed decisions about cancer prevention. Now, 20 years later, research indicates that knowing one’s BRCA status and taking risk-reducing steps can help people with mutations live longer. Experts use this information to help people make informed health care decisions to manage their cancer risk. But genetics is not an exact science, and even after two decades of research, and there are still health outcomes associated with living with a BRCA mutation that remain unknown.

We know even less about many of the genes included in NGS panel tests. These panel tests are being offered to consumers to help them assess personal cancer risk, but not nearly enough research has been conducted to identify specific risks and outcomes associated with mutations in some genes in these panels, and even less research is available concerning the best ways to manage cancer risk in individuals who have mutations in these genes.

Oversight of Laboratories That Conduct Diagnostic Tests: The federal government has regulatory standards for clinical laboratories to assure the quality of the labs and the tests they perform. But, these government agencies do not regulate other aspects of genetic testing such as:

  • Whether the tests have clinical utility
    Genetic tests for cancer risk are most useful if results can guide decision-making and most people assume that a test that is commercially available must have value for decision-making. But not all gene changes included in some NGS panel tests have been consistently linked to increased cancer risk. Some gene mutations increase risk, but not enough to change recommendations for risk management. Some genes are not associated with a specific cancer syndrome but still may increase an individual’s risk of some cancers. Currently tests that are run at certified laboratories are not required to meet any standard for clinical usefulness.
  • How the labs interpret and report variant results
    Panel testing returns a high incidence of genes that show a variant of uncertain significance (VUS) – a genetic variation for which the affect on risk of developing cancer is not completely understood. Such results make it exceedingly difficult for experts to advise patients about effective risk-management strategies and to identify family members who should consider genetic testing. Incorrect interpretation of VUS results in BRCA has led to adverse events in some patients, and with the growth of next-gen sequencing, in which VUS rates for some genes may exceed 50%, the incidence of adverse events seems likely to increase.
  • How the laboratories market these tests to doctors and consumers
    People are making medical decisions today based on panel test results, sometimes in the absence of evidence. Therefore, the information that labs provide about these tests, and how they market them to doctors and consumers are significant matters. FORCE was one of the first advocacy organizations to support government oversight of genetic test marketing. In 2009, we provided testimony to the Secretary of Health’s Advisory Committee on this topic, and based on that testimony, the FDA implemented a mechanism for health care providers to report adverse events stemming from laboratory tests.

The full potential of predictive testing can be realized only if patients receive credible and current information that helps them make fully informed decisions. Toward that end, FORCE recently testified that regulatory oversight of genetic testing laboratories ensures that:

  • Patients have access to trained genetics experts who are fully independent of testing labs and can provide them with standard-of-care genetic counseling for all the hereditary syndromes for which they may be at risk – both before and after genetic testing.
  • Individuals performing genetic counseling and interpreting test results meet minimum certification and continuing education requirements.
  • Genetic counselors receive appropriate recognition as health care practitioners by all payers, including Medicare.
  • Patients at increased risk for cancer can access services proven to reduce risk and improve survival or health outcomes—including breast MRI and prophylactic oophorectomy.
  • Resources are allocated to coordinate policies between the United States Preventive Services Task Force (USPSTF), Centers for Medicare and Medicaid Services (CMS), the Food and Drug Administration (FDA), payers, and other agencies.
  • The legal provisions of Genetic Information and Non-discrimination Act (GINA) and the Patient Protection and Affordable Care Act (PPACA) are vigilantly enforced, and expanded protections for life, disability and long-term care insurance are considered.
  • A process for reporting adverse events associated with NGS – including misinterpretation of test results – is in place and accessible to patients.
  • All laboratories contribute variant data to the publicly accessible database known as ClinVar, and quality control and oversight procedures are created for this public archive that collects information about genomic variation and its relationship to human health.

We will continue to be involved in this dialogue with the regulatory agencies to assure that the best overall health outcomes of consumers remains a priority, and will continue to update you as this topic evolves.

In the meantime FORCE is a resource for all people and families affected by or at increased risk for hereditary breast, ovarian, and related cancers. We are actively building our ABOUT Network Research Registry to study long-term health outcomes for people affected by HBOC and help improve guidelines for medical decision-making.Our registry and our FORCE programs help people who have tested positive for mutations in BRCA, PALB2, PTEN, and other genes linked to cancer, people who have a family history of cancer, those who received inconclusive test results, and those who have not had genetic testing but are concerned about their cancer risk.

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Maximizing Access to BRCA Testing by Involving Genetics Experts

Note: The below is an updated version of a post in 2008 right after the documentary In the Family was released, and actress Christina Applegate announced she had a BRCA 1 mutation. Five years later, this post is more relevant than ever. 

As the dust clears since Angelina Jolie went public with her BRCA status, the impact of her revelation has been mixed. On the positive side, the increased awareness of HBOC has opened up a public dialogue on genetic counseling, testing, cancer prevention, and access to care and has encouraged people to educate themselves about these topics. More people are considering their family history of cancer, pursuing genetic counseling and testing, and learning their options to prevent or to detect cancer earlier. Following these steps will save lives. Unfortunately, people’s initial inquiries about testing are not always met with credible information. We know from experience that where people go for additional information, resources, and support matters for their outcomes. FORCE has documented cases where people received inaccurate information about genetic testing which led to negative health consequences.

Fortunately, many people are finding their way to the expert-reviewed information and resources from FORCE and are being referred to genetics professionals. Calls to our toll free helpline have increased in direct proportion to media reports about BRCA. One of the frequent requests we receive is about financial assistance for genetic testing. Many of these calls are from individuals who have a family history of cancer and health insurance, but their insurance has denied covering genetic testing.

Many of these insurance denials and high out-of-pocket costs related to testing occur because people have not first met with a qualified expert in cancer genetics. When you consider the $3,000+ cost for “full-sequencing” BRCA 1 and BRCA 2 testing, where the entire gene is evaluated, it’s easy to understand why genetic testing is beyond the means of many people. However, under certain circumstances, a less extensive test may be more appropriate and can lower the price of testing by thousands of dollars. In other cases the choice of which member of the family receives genetic testing first can also affect cost and insurance coverage and risk assessment for the entire family. Some of these insurance denials stem from an uninformed health care provider ordering the wrong test or not identifying the best first person in a family to receive testing.

The high cost of genetic testing for BRCA is due to the fact that only one company—Myriad Genetics—can perform the gene test in the United States. They were granted exclusive patents on the BRCA genes and consequently control everything about BRCA testing, including the price. Even as the cost of genetic technology has decreased, Myriad keeps raising the price of their BRCA test.

A specially trained genetics expert will first assess an individual’s family medical history, determine which test is most appropriate, and identify which family member should be tested first. Seeing a genetic counselor prior to genetic testing can make the difference between having a test denied or covered by insurance. In fact, for people who meet specific National Comprehensive Cancer Network (NCCN) standard-of-care guidelines, many insurance companies, will pay for both genetic counseling and testing. The Patient Protection and Affordable Care Act also outlines that people who meet certain guidelines qualify for genetic counseling and testing which must be covered by their insurance without copay or deductible. A team of genetics and cancer experts can be good advocates for insurance coverage of genetic testing.

When genetic testing proceeds without counseling there is a higher likelihood of inappropriate or costlier testing. Myriad is the only entity who stands to benefits from inappropriate BRCA testing. In 2009, FORCE presented testimony to the Secretary of Health’s Advisory Committee on Genetics outlining our concerns about the aggressive marketing that was leading to increased cost and harm to our community. These concerns still remain true.

The American Civil Liberties Union (ACLU) has filed a lawsuit to invalidate Myriad’s patents. FORCE has filed an Amicus Brief in support of the ACLU’s case. The Supreme Court has heard the case and they are expected to rule by this summer. Until the cost of genetic testing goes down, genetic testing will remain out of reach for too many people, even for those who meet standard-of-care guidelines. On a national level, financial support is limited. People who meet certain criteria and have annual income below the poverty level may qualify for testing under Myriad Genetics Laboratories financial assistance program. For people whose insurance does not cover the full cost of testing, co-pay assistance is available through the Cancer Resource Foundation. Regionally, FORCE has been able to navigate many people who contact us for assistance to programs in their area but there are still many gaps in access to care.

For the uninsured or underinsured women who receive assistance for genetic counseling and testing, what then? Experts recommend annual mammograms and MRI for BRCA-positive women ideally beginning at age 25. Patient Services Incorporated (PSI) has a program funded by Right Action for Women which covers the cost for MRI for eligible young high-risk women. The National Breast and Cervical Cancer Early Detection Program, provides free mammograms for women over 40. Gaps still remain for financial assistance for breast MRI for high-risk women over age 40 and for mammograms for women younger than age 40. Financial resources for women who choose to undergo  prophylactic surgery is even more limited. Like most disparity issues in health care, the needs are many and existing resources are few.

With the media spotlight on hereditary cancer, and demand for BRCA testing increasing, FORCE has continued to emphasize the importance of referral to appropriate experts for genetic counseling before and after genetic testing. Until the disparity and cost of testing issues are resolved, given that genetic testing is expensive, financial resources are limited, and not everyone has equal access to care, the best way to maximize the number of appropriate tests, is to include genetic counseling with experts prior to the ordering of genetic tests.

Proposed Guidelines on BRCA Testing Leave Many Gaps

The United States Preventive Services Task Force (USPSTF) is a government-supported independent panel of experts that reviews and develops recommendations on select preventive health services. The panel assigns letter grades to preventive services based on their opinion of strength of the research evidence. The task force just released a draft of their guidelines on genetic counseling and testing for BRCA. Despite some strengths of the updated guidelines; important gaps remain that will directly affect patient access to genetic counseling, genetic testing, and preventive services.

Significance of These Guidelines
The USPSTF published guidelines are important to consumers for two main reasons:

  1. Primary care clinicians and health systems follow these guidelines. The content of the guidelines can affect what information doctors convey to patients about disease risk, screening, and prevention.
  2. The panel’s guidelines must be implemented based on the Patient Protection and Affordable Care Act (PPACA), which states that health plans must provide benefits without imposing cost-sharing (i.e., without a deductible or co-pay) for services that have a rating from the task force of “A” or “B.” 

USPSTF Guidelines on BRCA Testing
In 2005, the USPSTF first issued guidelines for primary care providers on “Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility.” The task force assigned a grade “B” (recommended health care providers offer this to patients) to genetic counseling and testing for women with a family history suggestive of a possible BRCA mutation. It issued a grade “D” (recommended health care providers discourage patients from using these services) to genetic testing in women without a family history suggestive of a mutation. In 2005 this guidance was greatly needed, as many primary care providers were either unaware of BRCA testing or had received most of their information from Myriad Genetics, the laboratory that sells the test. At the time, the USPSTF did not request public or expert commentary on their guidelines.

In 2011, the USPSTF announced its plan to update these guidelines, and asked for public commentary. FORCE (and other health care experts) submitted written recommendations to the USPSTF on its plan to review the research on BRCA genetic counseling and testing and update the guidelines. Despite receiving extensive suggestions for strengthening and improving the guidelines, last month the USPSTF released new draft guidelines that essentially restate the 2005 guidelines and grades with few changes. In general, I agree with the letter grades that were assigned, but I’m disappointed that this opportunity for guideline revision was not used to address critical gaps. With the recent passage of the PPACA—which references USPSTF guidelines to determine insurance coverage of some preventive services—it is more important than ever that the USPSTF guidelines on genetic counseling and testing are practical, comprehensive and evidence-based. Gaps in the guidelines will now directly affect patient access to genetic counseling, testing, and preventive services as outlined by this new legislation.

An overview of our comments is available on our advocacy page, and our full written comments as submitted to the USPSTF can be viewed here.

FORCE Concerns with the Draft Guidelines

  • The patient population covered by the guidelines is too narrow. Important groups are not specifically included in the USPSTF guideline “B” letter grade:
    • Women who have been diagnosed with cancer
    • Women with a known BRCA mutation in the family
    • Women with a family history of cancers other than breast or ovarian cancer that puts them at high risk for inherited cancer
    • Men
  • No letter grade is assigned to any risk-management options.
    The task force mentions risk-management interventions but does not assign letter grades to specific prevention and screening options. With no letter grade assigned, these preventive services are not guaranteed coverage under the PPACA, nor will health plans be directed to provide the services without out-of-pocket costs to patients.
  • The current guidelines take a single-syndrome approach to family history and genetics. The task force states: “…primary care providers should ask about specific types of cancer, which family members were affected, and the age and sex of affected family members…For women who have positive family histories of breast or ovarian cancer, primary care providers may use one of several brief familial risk stratification tools to determine the need for in-depth genetic counseling.”

Encouraging doctors to take a patient’s family history of breast and ovarian cancer is a positive step. However, the guidelines only provide instructions for referring women with a positive family history of these two cancers. Other cancers (such as pancreatic cancer) can be associated with a BRCA mutation in a family. Further, a family history of different cancers may indicate other hereditary syndromes associated with different mutations than BRCA. Lynch Syndrome, for example, is associated with a family history of ovarian, colon, and/or endometrial cancers and Cowden Syndrome is associated with breast, thyroid, and uterine cancers.

FORCE Recommendations to the USPSTF
FORCE’s submitted recommendations for addressing these gaps, focusing on issues that we felt had the most supportive research evidence:

  • Extend the evaluation and letter grade to women with a known mutation in the family
  • Extend the evaluation and letter grade to women who have been diagnosed with breast cancer and who meet criteria based on personal and family history of cancer 
  • Assign a letter grade to the following risk-management options
    • Breast MRI 
    • Risk-reducing  bilateral mastectomy
    • Risk-reducing bilateral salpingo-oophorectomy
    • Oral contraceptives
  • Review the evidence and develop one set of integrated practice guidelines for collecting family history and referral of appropriate individuals for genetic counseling, testing, and related preventive services. These guidelines should include Lynch Syndrome and other relevant hereditary cancer syndromes.

Guidelines Are Important, But A New Approach Is Needed
Focusing public health efforts on disease preventive is lifesaving. Applying risk assessment allows us to better tailor prevention and screening for those in the highest risk categories; this approach is both lifesaving and cost saving. Developing expert guidelines based on  the strength of research on preventive care is worthwhile. But we must do a better job in guiding primary care doctors specifically on topics of genetics, risk assessment, screening, and prevention of hereditary disease in order to save more lives.

The USPSTF consists primarily of public health experts rather than clinical experts in disease and genetics. This may not be the best approach for reviewing topics in the realm of personalized medicine and genetics. The Centers for Disease Control (CDC) Office of Public Health Genomics organizes a panel – the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group – which includes both public health experts and clinicians. EGAPP provides an example of a more inclusive panel for reviewing the application of genetics to public health.

The narrow approach of reviewing research for only one hereditary cancer syndrome and only specific portions of the community while ignoring other hereditary syndromes and populations at risk does not serve the public well. Using this approach, the USPSTF is missing the opportunity to help practitioners identify people at very high risk for many preventable diseases with a goal of saving lives. Health care professionals and the public would be better served by having a single set of evidence-based guidelines that address the collection and evaluation of personal and family medical history to identify people who would benefit from genetic counseling and testing for many hereditary diseases. These guidelines should include all hereditary disease syndromes and conditions that have associated genetics tests with clinical utility.

FORCE plans to work with policy-makers and other advocacy groups to outline and propose a new approach to systematic review of preventive services such as collection of family history, genetic counseling, genetic testing, and screening and prevention options. Our goal will be to address important issues including:

  • Determining which experts should be included on preventive services task force panels
  • Prioritizing the diseases and preventive services to be evaluated
  • Integrating the guidelines for different diseases and services into a single set of easy-to-follow recommendations on risk-assessment, screening, and prevention
  • Expanding coverage under the PPACA, Medicare, and Medicaid for preventive services for more diseases, populations, and medical interventions

The new USPSTF draft guidelines highlight gaps in education resources, research and access to care. There is a continued need for FORCE to take action and unite our community to advocate for more HBOC-specific research and more access to credible information, genetic counseling and testing, and risk-management options. At the same time, FORCE will be working with groups representing other hereditary diseases to address the global issue of how to better incorporate personalized medicine and genomics into public health. Stay tuned for updates.

Gene Discovery, Patents, and the Community

Recently a dear friend sent me a link to an article in the February 1996 issue of Nature Medicine. The article by journalist Adam Marcus covered a media event and panel of women’s rights advocates expressing concern about Myriad’s impending patenting of the BRCA1 gene. Panelists declared unregulated genetic testing to be the coming century’s foremost threat to individual liberty. Incredibly, 17 years after the publication of Adam Marcus’ article, the debate is still ongoing—the issue of gene patenting and the consequences of lacking regulation regarding gene patents are still present and as relevant as they were then.

Admittedly, I missed this article the first time around. In 1996, I was more likely to be reading the Journal of the American Veterinary Medical Association than a human medical journal. With a toddler, a budding veterinary career, and no significant family history of breast cancer, my focus was not on hereditary cancer. In fact, genetic testing and gene patents were furthest from my mind. But my diagnosis with breast cancer eight months later and subsequent revelation that I have a BRCA2 mutation changed that.

When I was first tested for a BRCA mutation in 1998, I was fortunate; my testing costs were covered by my health insurance. I was very grateful to have access to the test; my gratitude extended to the laboratory that made the test available to me. Although I was initially tested without genetic counseling, I went to MD Anderson Cancer Center for a second opinion and eventually found my way to a genetics expert and had access to up-to-date and credible information from experts. It wasn’t until I became immersed in my work with FORCE that I became aware of deeper issues that were the consequence of Myriad holding patents on the BRCA genes.

In 2009, Joanna Rudnick released her documentary In the Family, which shined a spotlight on Myriad’s gene patents and some of these consequences. The documentary included an eye-opening interview with Dr. Mark Skolnick, founder of Myriad Genetics. Joanna questions how a gene—a product of nature—can be patented, saying “It’s like patenting your thumb.” Skolnick compares Myriad’s patents on the BRCA genes to patents for ipods, telephones, and computers, and cavalierly asserts “there’s no controversial patent. It’s all very easy to understand if you take the time.”

In the film, Joanna brilliantly follows the Myriad interview with an interview of Dr. Mary-Claire King, who was credited with identifying the location of the BRCA gene when she was a researcher at University of California at Berkeley. Dr. King has dedicated herself to the research that proved the existence of hereditary breast cancer gene mutations. Her research laid groundwork that sent many laboratories racing to be the first to isolate and clone the gene for genetic testing.

In Rudnick’s film, Dr. Skolnick says, “I think the single greatest inventive thing I did was to create Myriad. We did it to win the race…and we won.” Asked point-blank why the cost of the test is increasing, Dr. Skolnick replies, “that’s a good question, and I think there’s a point at which we have to start looking at decreasing the cost of the test.” Yet, four years after the documentary was released, the cost of testing has gone up—BRCA testing is more expensive, even though the technology for sequencing DNA has become less expensive.

The gist of Dr. King’s interview starkly contrasts with Dr. Skolnick’s statements. Dr. King speaks about genes for which she holds patents, saying, “The critical thing about the patents we hold is that none of them are exclusively licensed. So they are completely open for anyone to use for research purposes and any company that wishes to license them can license them for a trivial amount of money.” King mentions that her last royalty check amounted to $2.73. In contrast, the February 6 edition of the Salt Lake Tribune reports Myriad’s earnings: “Myriad projects full-year 2013 revenue will fall between $575 million and $585 million. That would be a 16 percent to 18 percent increase over fiscal 2012.” The contrast is apparent and appalling.

Over the years, FORCE has appealed to government agencies and spoken to the health care community and the public regarding Myriad’s exclusive patent, and explained how the corporation’s marketing strategies and policies have increased the burden on the hereditary cancer community that we serve. In 2008 and again in 2009 we testified to the Secretary’s Advisory Committee on Genetics Health and Society, expressing our concerns with direct-to-consumer marketing of genetic tests, and specifically Myriad’s marketing practices, which we feel encourages BRCA testing without first receiving genetic counseling from qualified experts trained in cancer genetics. In our opinion, their aggressive marketing strategies have been harmful to members of our community.

In 2009, the American Civil Liberties Union filed a lawsuit challenging Myriad’s patents on the BRCA genes. On April 15, 2013 the U.S. Supreme Court will hear oral arguments on gene patenting. This hearing will represent the culmination of four years of the legal tug-of-war between Myriad Genetics and the plaintiffs, which included the ACLU and a long list of individual, advocacy, and health care professional groups. FORCE agrees with the ACLU that exclusive gene patents negatively affect access to care and research and we have filed an Amicus (Friend of the Court) brief on behalf of plaintiffs. You can read our testimony to the United States Patent and Trademark Office on the topic of how exclusive gene patenting impacts research and access to care. The Supreme Court oral arguments will be open to public participation.

For those who wish to learn more about Dr. King’s work, Decoding Annie Parker is a new  movie that follows the parallel lives of Dr. King and Annie Parker, a Canadian woman whose family was impacted by hereditary cancer. Based on a true story, the film raises the profile of Dr. King’s contribution to the discovery of hereditary breast and ovarian cancer syndrome and the BRCA1 gene mutation. It is sure to resonate with many in our community. FORCE is a proud charity partner of the movie, which stars Helen Hunt as Dr. King. A special screening will be held April 2 in New York City. FORCE will hold  screenings of the film in other cities. Stay tuned for updates.

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.

Direct-to-consumer genetic testing: the latest FORCE testimony to SACGHS and FDA feedback

Recently FORCE submitted testimony to the Secretary’s Advisory Committee on Genetics Health and Society (SACGHS) about our continuing concerns about the need for government oversight of the marketing of genetic tests to consumers and health care providers.  Below is an excerpt from our testimony.

Dear Distinguished members of the committee, I represent the lay advocacy group, Facing Our Risk of Cancer Empowered (FORCE), a national 501(c)3 nonprofit organization whose mission is to improve the lives of individuals and families affected by hereditary breast and ovarian cancer. I am here to follow up on the testimony presented last year to this committee by Dr. Sue Friedman, our Executive Director and present our mounting concerns about the unrestricted marketing that is being used by genetics laboratories and specifically Myriad Genetics. I would like to share with you how these actions are impacting members of the community that we serve. As Sue Friedman testified at the last meeting, based on what we have witnessed it is our opinion and belief that Myriad’s sales representatives discourage doctors and other health care providers from referring patients to genetics experts.

In the past, Myriad has denied use of such a strategy, and when presented with our concerns their Vice President of Marketing dismissed them as the work of a few “rogue” sales agents. However, in a recent publication, Myriad CEO Peter Meldrum was quoted as saying that Myriad’s sales force “provides doctors [with] the tools to do counseling” in-house, and as a result, physicians can bill insurers directly for the service.”

The same report stated that:

“Helping doctors to set up genetic counseling services in their own practices is a priority for the Myriad sales team, which is currently 300 reps strong, ahead of a direct-to-consumer effort in a particular geographic region. The company has carried out DTC ads in the Northeast and the Midwest, and is continuing marketing efforts in the South. According to Meldrum, sales representatives educate doctors and nurses about who should be tested on BRACAnalysis and how to handle patients’ questions about genetic risk. Also, the company’s sales reps attempt to reach doctors and show them DTC ads for BRACAnalysis ahead of its television airing in a particular locale, so they can be more prepared when patients come into their offices asking about the test.”

Having reviewed Myriad’s education materials for health care professionals, we are concerned that they focus only on the hereditary syndromes for which the lab markets a test. Unfortunately, we believe these materials are misleading and in many cases they are the only information many health care providers—particularly those being targeted by the company—receive about cancer genetics. This means that patients who might meet criteria for other hereditary syndromes (for which Myriad does not test) are not always receiving comprehensive or accurate information because their health care providers are not genetics experts and are unaware of these other syndromes. By encouraging health care providers with limited genetics expertise to provide “in-house counseling” and order testing, it is our opinion that Myriad is establishing a minimum competency for providing genetic information to patients which falls below published national expert guidelines. The lab is establishing a body of health care providers who, rather than practicing medical genetics, are trained to market BRCA testing for the company that manufactures the test. They have also begun to train a body of patients who have undergone genetic testing to act as “patient advocates” to speak out in favor of genetic testing on Myriad’s behalf. Unchecked and unregulated, Myriad has unrestricted access to providing consumers both directly and through their health care providers with unbalanced, biased information about genetic testing for hereditary cancers.

We have heard from health care providers untrained in genetics who have admitted that they have consulted with Myriad staff when determining appropriateness of genetic testing rather than consulting with a genetics expert unaffiliated with the lab, and rather than referring the patient. We feel that this is a clear conflict-of-interest: consulting with a company employee is not the same as referring a patient to a specialist not affiliated with or employed by a lab with a financial incentive for selling tests. This is another way the genetic counseling process that is a national standard-of-care is being bypassed.

Following up on prior testimony, we are continuing to hear from people who have been tested without benefit of genetic counseling and receive results from doctors or nurses who have no understanding of the significance of test results. We are also learning of many incorrect or inappropriate tests ordered at significant expense to the consumer and/or their insurance company. In some cases tests are being ordered without insurance company pre-approval and individuals learn they do not meet insurance criteria only after they have already paid for testing.

Since no regulatory body monitors or regulates the marketing of tests through CLIA-approved labs, and no entity documents reports of adverse events, we have no way of knowing just how many people are harmed every day by inappropriate genetic testing. Standard medical practice calls for a referral to a specialist when specific expertise is required. Most physicians know to refer someone with a heart murmur to a cardiologist, for example, and to send a patient with a corneal laceration to an ophthalmologist. Despite published guidelines that outline genetic counseling prior to BRCA testing as standard-of-care, because much of the general population is unaware of the existence of genetics experts, and health care providers are being discouraged from referring patients, consumers have no way of knowing that they are receiving substandard care and have no venue for registering complaints.

We urge the Secretary’s Advisory Committee on Genetics, Health and Society to recommend federal action to monitor, regulate, and track adverse events resulting from marketing by laboratories to both consumers and health care professionals, and to require doctors to know about, inform patients about, and refer patients or provide them access to standard-of-care genetic counseling prior to ordering genetic testing for a patient. Thank you.

Since our testimony, we have heard from an FDA representative encouraging the reporting of cases where genetic testing without prior genetic counseling led to emotional or physical harm.  These cases can be submitted through the FDA’s MedWatch online reporting portal.  Consumers, advocacy groups, and health care providers are encouraged to submit these cases to the FDA.  Health care providers and advocates submitting reports on a patient’s behalf should use initials or a first name only to assure HIPAA compliance and/or patient privacy.   FORCE will submit cases on behalf of consumers who wish to file a report but wish to remain anonymous.  Please contact us at: info@facingourrisk.org and put MedWatch in the subject heading.

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.”