By Sue Friedman

In 1996, I entered the world of breast cancer advocacy through my own diagnosis at age 33. As a veterinarian, I had some medical background, but limited information about my diagnosis or how best to navigate the system.  At the time, there were few resources focused on hereditary cancer and genetics. After my initial treatment of a unilateral mastectomy with TRAM flap reconstruction, I learned from a magazine article that I fit the criteria for a hereditary syndrome. I was angry that my health care providers hadn't given me basic information that could have saved me from unnecessary surgeries.  But they, too, were in the dark about hereditary breast cancer.  Although it cost me another two surgeries, fortunately it didn't cost me my life.  I was grateful to learn about genetic testing and preempt a second diagnosis of cancer. (Pathology from my prophylactic mastectomy found DCIS in my "healthy breast.")  The lack of adequate information and resources motivated me to found FORCE: Facing Our Risk of Cancer Empowered, the only nonprofit organization devoted to helping individuals and families affected by hereditary breast and ovarian cancer.

I am neither in favor of nor against the marketing of genetic tests directly to consumers. Many of our members have reported first learning about genetic testing for the genes associated with hereditary breast and ovarian cancer, or BRCA testing, through direct-to-consumer marketing.   Marketing efforts can raise patient awareness of available technologies. However, improperly handled information can also cause problems.  When biotech companies control the bulk of information reaching consumers either directly or through their health care providers; when health care providers and consumers perceive the information coming from these companies as complete and balanced; when clear and uniform regulations about marketing of tests is lacking; and when tests are being promoted absent of the direct input of field specialists, there is greater opportunity for unbalanced and misleading information, inconclusive or incorrectly interpreted test results, and the grave likelihood of consumer harm.

Ten years ago, the prevailing information about breast cancer risk was based on the Gail model, which predicts the risk of developing breast cancer based on limited personal and family medical information.  The drug Tamoxifen had recently been approved by the FDA for breast cancer prevention in women with a high-risk for breast cancer as indicated by their Gail model score. The pharmaceutical company provided a large number of primary care physicians with calculators that helped them quickly determine a patient's Gail model score, their breast cancer risk, and whether or not they would benefit from Tamoxifen. Very few of these physicians had any formal training in cancer genetics or risk assessment and sometimes used the calculator as the only index for measuring breast cancer risk. Unfortunately, the Gail model misses many hereditary cancer risk factors such as paternal family history, family history of ovarian cancer, and second and third degree relatives. Many high-risk women were mistakenly told that their risk for cancer was not elevated.

In this landscape, the biopharmaceutical company Myriad launched a marketing campaign offering physicians and consumers more information about hereditary breast and ovarian cancer syndrome.  Suddenly, the medical community was paying more attention to family history of ovarian cancer, multiple cases of breast cancer within a family, premenopausal breast cancer, male breast cancer, and the paternal family history. In general, this was an improvement over risk assessment based purely on the Gail model.  However, once again health care providers with little or no training in cancer genetics-and little time to provide a formal risk assessment-began offering genetic testing in their offices. In recent years, advertisements for BRCA testing have been accompanied by aggressive marketing to physicians.  Some of this messaging to physicians has promoted the notion that referral to a genetics expert prior to genetic testing is unnecessary.  Patients tested in such a setting, without the option of referral to a genetics expert prior to genetic testing, are being denied standard-of-care informed consent.  The importance of such consent is laid out by the National Comprehensive Cancer Network and other professional societies and consumer organizations.

At FORCE we have begun to document cases of people who received incomplete or incorrect information about genetic testing.  Anecdotally these cases appear to be rising in frequency. Unlike with pharmaceutical products, the adverse events associated with marketing of genetic tests may be less obvious, and documentation may be more difficult. Because many of the tests in question fall under the Clinical Laboratory Improvement Amendments (CLIA), there is no "labeled indication" for the test.  "Off label use" and adverse events are difficult to quantify. Unfortunately, once a test is offered to the public, the average consumer assumes that the test has been validated, has gone through an FDA approval process, has clinical utility, and any marketing claims must be true.

Also at issue is the lack of one trusted central source to provide credible information about available tests. Information provided by a corporation is not necessarily comprehensive; missing information may be as problematic as the information that is included.  I have watched meetings of professional societies where speakers held up educational pieces prepared by a test manufacturer and stated, "This is all you need to begin genetic testing in your practice." At a recent panel discussion on direct-to-consumer testing, one genetics expert likened this scenario to the proverbial "fox guarding the henhouse."  The creation of the Evaluation of Genomic Applications in Practice and Prevention initiative in 2004 is a step in the right direction, but it lacks the capacity to evaluate in a timely way the burgeoning number of tests offered to consumers.

The lack of uniform oversight is another concern with marketing of genetic tests. Tests and laboratories fall under several possible jurisdictions, and some commercial tests fall through regulatory gaps. Tests offered through CLIA-approved laboratories do not fall under FDA jurisdiction and as such have no requirements for test validation and demonstrated clinical utility. Although many states have laws regarding the marketing of genetic tests to consumers, the laws are patchwork and often lay out only the minimum requirements regarding direct-to-consumer testing. Recently two states, New York and California, issued "cease and desist orders" to certain companies that were offering genetic tests to consumers without physician involvement. Some of the companies were able to resolve the issues cited by hiring staff physicians to meet state guidelines. However the involvement of a physician in the ordering of a genetic test may not be enough to improve patient care. Government interest in the concerns raised by direct marketing of tests is another positive step, but without a central federal agency to lead the oversight, current efforts fall short of what is needed to protect consumers.

It is critical for health care providers, government regulators, and companies offering direct consumer access to genetic tests to remember that people are making real-life, real-moment decisions based on test results and information that they are receiving from their health care providers about the meaning of these results.  Along the way there are many areas for the introduction of misinformation and misinterpretation of tests.  Recently I participated in a panel and listened in shock as one panel member recounted several stories of how her company gave patients access to genetic tests that were not recommended by their physician and which they provided outside of standard of care and/or FDA 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.

The responsibility for improving patient experience of genetic testing is a shared one requiring input, resources, and action from many parties. We need the passage of effective federal legislation to tighten loopholes around marketing of consumer tests and remove the confusion associated with a patchwork of state laws. Not all genetic testing requires the same level of pre- and post-test counseling or education. However, it is important that the appropriate experts are involved from the beginning in determining what information is needed to help people make informed decisions.  It should not be up to the test developers to determine the appropriate amount of information, nor to designate the minimal competency for conveying this information.  A panel of health care providers, consumers, platform developers, and government officials should determine requirements for expert involvement and a minimum standard competency.  Tightening up the regulatory loopholes and enacting effective laws takes time. In the interim, health care providers need to understand the tests being marketed to their patients.  In the absence of the time or expertise to understand the tests, physicians must be willing to refer patients to the genetics experts who can understand and help interpret the tests. Professional societies need to develop clear guidelines that outline standard-of-care, including the appropriate point to refer people to other specialists. Consumer organizations need to be vigilant and educate their constituents about receiving appropriate input from medical experts prior to ordering genetic tests. Finally, the test manufacturers themselves need to demonstrate responsibility and restraint in their marketing practices by involving consumer and professional society representatives in the development of their marketing materials. By working together we can improve patient experiences of genetic testing and help people fully realize the promise of personalized medicine that these technologies bring.


Sue FriedmanSue Friedman founded the national nonprofit organization Facing Our Risk of Cancer Empowered in 1999 after learning she carried a mutation that led to her breast cancer at age 33. In 2003, Sue retired from veterinary medicine to direct FORCE full-time. Sue also works at the H. Lee Moffitt Cancer Center and Research Institute in Tampa, FL as an outreach coordinator for their Cancer Genetics Program. . She participates as an advocate on the National Comprehensive Cancer Network panel that develops standard-of-care guidelines in oncology and volunteers for the National Cancer Institute's CARRA program (consumer advocates in research and related activities).

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