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

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

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multi pipette    research of cancer stem cells

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:

‘I Had No Idea I Had an Increased Risk for Breast Cancer–Until My Dad Got Pancreatic Cancer’
‘How My Father’s Genetic Test Led Me to Make a Radical Decision About My Health’
‘I Wanted to Know Exactly How at Risk I Was for Cancer–So Here’s What I Did’.

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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Updated: October 13, 2016 — 2:00 pm

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