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Advocacy group anecdotes present one-sided picture of genetic testing for breast cancer

Mary Chris Jaklevic is a freelance health reporter who joined our review team in April 2016. She tweets as @mcjaklevic.

Genetic testing for breast and ovarian cancer risk is cheaper and easier than ever. But just because a test is available doesn’t mean everyone should get it.

That message didn’t come through in a recent series of patient anecdotes published on Women’s Health magazine’s web site:

Each of these stories featured a healthy young woman who decided to undergo testing for mutations associated with increased risk of breast and ovarian cancer. Two of the women had family histories of cancer that spurred their decisions, but the third had no known risk factors and was simply “curious” to learn about her genetics.

multi pipette research of cancer stem cellsBecause insurance wouldn’t pay for her test, the woman with a clean history paid $249 to Color Genomics for a test kit. “We all have access to this technology now, and it allows you to understand your risk for disease,” she said, after receiving a negative result. “So if I can take a genetic test that can tell me if I’m at a higher risk, why wouldn’t I do that?”

What was missing: A balanced discussion of genetic testing limitations

Why not, indeed? This coverage didn’t tell us, missing a keen opportunity to educate readers about the limitations of genetic testing for breast and ovarian cancer, and the full extent of uncertainties around the best actions to take if a woman does test positive. Each step in the process carries drawbacks that need to come through in reporting, so women come away informed.

Here are but a few:

  • Less than 1 percent of the general population has a mutation in the BRCA1 or BRCA2 genes, the most common genes associated with hereditary breast and ovarian cancer syndrome (HBOC), according to the American Society of Clinical Oncology.
  • Testing positive does not mean a person will get cancer. It’s estimated that 55 to 65 percent of women who inherit the BRCA1 mutation and 45 percent of those who inherit the BRCA2 mutation will get breast cancer by age 70, according to the National Cancer Institute. An estimated 39 percent of women who inherit a BRCA1 mutation and 11 to 17 percent of women who inherit a BRCA2 mutation will develop ovarian cancer by age 70.
  • A negative result does not guarantee a person won’t get cancer. Only 10 to 15 percent of women diagnosed with breast cancer and a similar percentage of those with ovarian cancer have a BRCA mutation. Most cancers are tied to non-genetic factors such as age, lifestyle choices, and viral exposures.
  • Some gene mutations cannot be classified as harmful or benign, leaving people in a state of uncertainty.
  • A positive result can lead a person to feel anxious, depressed, or angry and face difficult choices about whether to have preventive surgery.

It’s important that these pitfalls are not glossed over in the excitement to promote a seductive new technology.

Also missing: Advocacy group’s ties to industry

The patient anecdotes were “created in partnership” with advocacy group Bright Pink to mark the September launch of its Explore Your Genetics web site, which provides information about testing including links to genetic counselors and testing companies.

Bright Pink, an up-and-coming not-for-profit with a stated aim of educating young women and their providers about breast and ovarian cancer, lists two gene testing companies, Myriad Genetics and Color Genomics, among its sponsors along with Hologic, a diagnostics firm. Color Genomics co-founder and President Othman Laraki was a keynote speaker at a recent Bright Pink fundraiser.

Those industry ties were missing in the Women’s Health coverage.

Similarly, a 10-minute interview about the new web site on ABC’s WLS-TV Channel 7 with Bright Pink founder and CEO Lindsay Avner yielded no information on the drawbacks of genetic testing, nor the group’s industry ties.

News outlets often neglect to report ties between patient groups and industry, as HealthNewsReview.org recently chronicled in posts about a new muscular dystrophy drug and biosimilars.

Avner, who underwent a risk-reducing double mastectomy after testing positive for a BRCA mutation, told the ABC station the goal of the web site is to address “any small barrier that was holding a woman back” from testing, such as concern about discrimination based on genetic status. Avner appeared with her husband, Gregg Kaplan, who lost his previous wife to breast cancer after she tested positive for a BRCA mutation.

Avner rightly points out that most women and men who carry harmful BRCA mutations don’t know it. A 2012 analysis estimated just 14 percent of nearly 350,000 estimated female carriers in the U.S. who are 20 and older had been identified.

“We have a lot of work to do with a lot of women that desperately need to be getting tested and they need to be taking action,” including enhanced screening and surgery, Avner said.

Should all women really get tested?

But Bright Pink further asserts that women without risk factors may want to get tested because, as Avner said: “We think that about 50 percent of people who carry the BCRA 1 or 2 gene mutation don’t actually have a family history (of cancer).”

That figure is misleading because it comes from research on Ashkenazi Jewish families, who have a higher prevalence of harmful BRCA mutations than the general population, said Ellen Matloff, a certified genetic counselor and the president and CEO of My Gene Counsel.  “Just (having) that ancestry warrants genetic testing and counseling,” she said.

Prevalence of BRCA mutations in the general population is 0.2 to 0.3 percent, or one in as many as 500 people, versus 2 percent, or one in 50 people, in Ashkenazi Jewish families, according to data collected for the U.S. Preventive Services Task Force.

While a few health professionals have asserted that genetic tests should be offered to all women as well as men in order to identify the small number who carry dangerous mutations, the idea is controversial.

For one thing, it could lead to rash decisions. “There’s a big fear factor for women,” said Sharlene Hesse-Biber, a sociology professor at Boston College who studies the psychosocial impact of genetic testing. “They’re often not prepared for the result, and very often many of them launch into surgery to remove breasts and ovaries too quickly, when it’s not clear they need to.”

Hess-Biber also worries about a proliferation of online decision tools — established by for-profit testing companies as well as not-for-profits — that are not vetted for accuracy and could put people on a path to genetic testing that may not benefit them.

For example, Bright Pink’s digital AssessYourRisk tool, which is available on its Know Your Genetics web site, advises those at minimal risk: “If you want to confirm that your baseline risk truly is average, consider talking with your healthcare provider or a genetic counselor about whether genetic testing is right for you.”

“It’s encouraging people to get into the testing net, even if you are normal,” Hess-Biber said.

Bright Pink says its 19-question quiz has been used by more than 300,000 women and recently announced a deal with ContextMedia to distribute it in thousands of physicians’ offices. But HealthNewsReview.org could find no information on the site about how the tool was developed, what data it’s based on, or whether it is updated based on new research — information Hess-Biber said should be disclosed.

‘We need to be sure we aren’t doing more harm than good’

“Are they in a position to make such a recommendation? And where does this tool come from? Nobody is asking those questions,” Hess-Biber said. “There should be some oversight on the efficacy and validity of these decision-making tools.”

Genetics counselors generally don’t recommend testing based on curiosity alone. And the U.S. Preventive Services Task Force discourages genetic counseling or testing of people whose family histories don’t suggest an elevated risk.

In fact, people without Jewish ancestry or a personal or family history of cancer are more likely to learn they have a “variant of unknown significance” than a harmful mutation, said Matloff.

“This can be anxiety-provoking for the patient and his/her providers, and may lead to over testing, over-screening, and even prophylactic surgeries that may not be needed.  We need to be sure we aren’t doing more harm than good,” she said.

If a harmful mutation is found, there’s still uncertainty about the significance of that mutation in families where there’s no cancer history, Matloff said. “Is (the risk) high enough to warrant surveillance, medication, or prophylactic surgery? The truth is, we don’t know.”

No definitive next steps for women who do test positive

While women such as those in the Women’s Health series may find genetic data empowering, for others it can lead to an excruciating state of limbo. The Women’s Health stories would have been stronger if they had included this point.

For example, in a New York Times essay, Waiting for Cancer, Patricia Fall writes about inadvertently learning she carries the BRCA1 mutation. She relates “a series of false alarms that take me on an emotional roller coaster” as she undergoes continual blood tests, mammograms and breast ultrasounds to detect any sign of disease.

She says, “There is a lot of guilt and anxiety that comes with knowing too much. The guilt of not being able to bring myself to have the surgeries that could ultimately extend my life; and the guilt of knowing that I am likely to have passed my damaged DNA onto at least one of my three children.”

And Cynthia Graber writes about her fear of living in fear in a Slate essay, Why I Won’t Get the Genetic Test for Breast Cancer. If she were to test positive for a BCRA mutation, she said, “statistics would push me toward removing my breasts and ovaries” based on data from high-risk families that may not apply to her situation.

As a result, “I wouldn’t be able to have children. I’d lose sensation in my breasts—a crucial part of my sexual enjoyment—and possibly strength in my arms. Oophorectomy also kick-starts menopause: That can mean early bone weakening, cardiovascular disease, even dementia.”

She concludes that surgery is not a step she’s willing to take. Genetic data, Graber writes, may become “more and more powerful, but it will never provide simple answers.”

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Comments (8)

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Steven Charlap, MD

October 14, 2016 at 12:27 am

A well articulated and thoughtful article. The question is with physicians often failing to collect detailed family cancer history and anyways lacking up to date knowledge to properly interpret such data, where does one go for good advice? The problem exposed by this article is clear; the solution less so. I may have found a solution, but it’s not ready for prime time. Stay tuned.

Kelly Kashmer

October 14, 2016 at 1:39 pm

Great article that really highlights the importance of meeting with a genetic counselor first. I would however, disagree that testing is easier and cheaper than ever. Without doctors pushing to get family history and people actually having the conversation with a medical professional there are many missed opportunities. Insurance companies should be jumping all over this in terms of coverage. It’s a preventative measure in either surgery or screening for hereditary breast or ovarian cancer.
NothingPink.org

Erin Williams

October 14, 2016 at 5:30 pm

Commenting on behalf of Bright Pink: As Bright Pink is mentioned, and critiqued in conjunction with this Women’s Health article review, we feel strongly that the following distinctions and corrections be addressed. Bright Pink is a 501©3 organization focused specifically on the prevention and early detection of breast and ovarian cancer, not simply on education about the diseases. While Bright Pink tools and resources were mentioned in the Women’s Health articles, clarification should be given regarding the author’s review of these articles and the messages conveyed within them, versus review of Bright Pink resources independently.

Bright Pink believes that all women should feel empowered to explore the emerging science of mainstream genetic testing, and everyone should have access to the resources needed to evaluate whether this option is right for them. Lindsay Avner’s statement about removing barriers reflects this position, and does not advocate for testing for every woman. Education and linkage to available resources is in line with Bright Pink’s mission to help women know what steps they can take to reduce risk of, and therefore potentially prevent, breast and ovarian cancer.

Regarding sponsors, Bright Pink has a diverse set of sponsors that range from retail brands to foundations to corporations who believe in the work we do. Sponsors do not influence our policy or our public recommendations.

AssessYourRisk.org, like all of our programmatic content and tools, is proprietary and developed by Bright Pink under the guidance of our Chief Medical Officer and other medical professionals of various specialties. It’s research-based and the algorithm behind the assessment was designed to reflect NCCN guidelines relative to genetic testing, screening and risk management.

It is important to note that both of the Bright Pink websites in question, AssessYourRisk.org and ExploreYourGenetics.org, have been evaluated and given the seal of approval by the National Society of Genetic Counselors. All Bright Pink content is reviewed bi-annually to ensure resources and tools stay up to date and reflect the current guidance.

AssessYourRisk.org has been designed to assist women in having meaningful conversations with their health provider about their breast and ovarian cancer risk. It is not meant to replace a doctor’s visit or be used as a diagnostic/screening tool. This disclaimer is present throughout the tool, and is a repeated across Bright Pink resources.

As the Women’s Health articles were focused on individuals, and not Bright Pink itself, we would like to clarify that our strategic imperative is to provide resources that are of service to all women, with diverse backgrounds and of all risk levels. Bright Pink agrees that a positive genetic test result and even simply the process of considering genetic testing can create a state of “limbo” and as an organization we address those concerns, and more, head on in ExploreYourGenetics.org. In addition, we connect women with additional resources, including genetic counselors and our own support programs that provide peer support for woman at high risk of breast and ovarian cancer. Please visit https://www.exploreyourgenetics.org/support/ to learn more about these options.

    Shayna Robinson

    October 25, 2016 at 3:34 pm

    I think it’s interesting Bright Pink defensively responded and offered up the risk assessment tool evaluation and “seal of approval” from the National Society of Genetic Counselors–an organization who’s mission is promoting “the professional interests of genetic counselors and provides a network for professional communications.” It lists nothing of patient advocacy. Furthermore, telling readers you are a 501c in the first paragraph, does not make you immune to conflicts of interest, especially when the “seal of approval” from the NSGC may or may not have been acquired through a partnership that may have been monetarily motivated. I went to the NSGC website and looked at their own conflict of interest policy which talks about how they have a policy but doesn’t actually tell you what it is, short of the fact that it is, at minimum, evaluated annually by it’s board.

      Maureen May, MS, LCGC

      November 8, 2016 at 12:38 pm

      The extensive NSGC Code of Ethics is freely available as is the Conflict of Interest Policy. The main page for these is http://www.nsgc.org/p/cm/ld/fid=11 and you can follow the links through at the bottom to review the entirety of each document. The Conflict of Interest Policy specifically is at http://www.nsgc.org/p/cm/ld/fid=13

      Sarah Hummel MS. LCGC

      November 8, 2016 at 12:40 pm

      I appreciate you said that because the NSGC recently updated their website and it appears that in the process the NSGC Code of Ethics and Conflict of Interest policies may have become more difficult to navigate to. http://www.nsgc.org/p/cm/ld/fid=11
      I was able to find links to the detailed NSGC Code of Ethics and Conflict of Interest at the link above :).
      It is definitely important that these policies are transparent and available and I appreciate you highlighting your difficulty finding this information. I am a genetic counselor and member (but by no means an official representative) of the NSGC and will also inform my colleagues about your difficulty finding the detailed information you were looking for.

      Jehannine Austin, PhD, MS, CGC

      November 8, 2016 at 2:47 pm

      Thank you to the NSGC members who shared links to our Code of Ethics and Conflict of Interest policies. To clarify, NSGC’s mission statement is as follows: The National Society of Genetic Counselors advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services. For more information please visit http://bit.ly/2ejoqEK.

      Regarding our endorsement, NSGC does not require and will not accept any financial incentive for endorsing a product, publication or other resource. The Board of Directors engages in a rigorous, standardized process to evaluate any request for endorsement. NSGC endorsement requires that the product was developed with the involvement of medical advisors, has a regular timeline for content review, fits with our mission, delivers clear benefit to our members and their patients and is transparent regarding the source of all content and funding. Our endorsement indicates that a product or publication has met these requirements.

Sandra Brown, MS, LCGC

November 8, 2016 at 4:12 pm

Very thoughtful article, thank you! I would add one and likely the most valuable item to your list of what is missing: an accurate cancer risk assessment and accurate management recommendations. It’s not enough to know your family history and genetic test result, its even worse if you don’t have support in understanding your family history and interpreting your genetic test result and potentially harmful if you don’t have support in choosing what genetic test and risk mamagement best fits your personal and risk assessment needs. Genetic counselors specialize in performing cancer genetic risk assessment by analyzing family history and genetic test results ( from hopefully an affected relative) and writing evidence based personalized risk assessments and management recommendations. Without an accurate risk assessment, there is always the possibility of more harm than good.