The Consumer Genetic Testing Paradox: Should Women Follow Angelina Jolie’s Lead on BRCA Screening?

“GUT CHECK” is a popular column by STAT, primarily dedicated to fact-checking trending and controversial topics in the marketplace.Investigation, such as consumer genetic testing. VCBeat has summarized the key viewpoints, with a particular focus on the necessity of BRCA (breast cancer gene) testing.

A previous survey by STAT-Harvard revealed that only a small fraction of Americans have undergone genetic testing to assess disease risks for themselves and their offspring. However, the majority expressed interest in taking such tests in the future to understand their susceptibility to cancer or Alzheimer’s disease.

A separate survey conducted by STAT on the physicians it commissioned revealed that,Physicians’ enthusiasm for the value of genetic testing in the general population is far from sufficient., which also explains why few people opt for genetic testing.

Linda Girgis is a physician practicing family medicine in southern New Jersey. HeIt indicates that there is no basis for conducting this test, and there is a lack of feasible therapeutic approaches to address the identified risks. These tests can only be successfully implemented after large-scale studies demonstrate the benefits of genetic testing; otherwise, significant resistance will be encountered.

A survey by STAT and the Harvard T.H. Chan School of Public Health shows that,Most Americans oppose future research utilizing genetics, such as creating "designer babies" by altering the DNA of embryos.. However, even the genetic technologies currently available have not been widely adopted.

Social celebrities, such as the actress Angelina Jolie, have agreed to undergo testing for genetic variants that increase disease risk, and a large number of companies, such as 23andMe and Ancestry.com, have begun promoting these tests to consumers. However, surveys have found thatOnly 50% of Americans reported having heard of genetic testing or seen related materials.。

Only 6% of adults reported having undergone genetic testing. Among this group, 35% expressed concern about health issues in their future offspring, 25% wished to gain a deeper understanding of their family genetic history, and 18% were concerned about their own future health problems. In the survey, 81% considered genetic testing “beneficial,” while 10% did not share this view.

No company has had a greater impact on research into breast and ovarian cancer in women than Myriad Genetics. Its DNA testing technology identifies women at high risk of developing these cancers, saving millions of lives. Many women, upon learning they carry cancer-causing mutations in their breast and ovarian genes, have opted for prophylactic mastectomy and oophorectomy to preempt the threat posed by these genetic risks.

In 1996, the company launched a groundbreaking genetic testing technology and secured patents for “BRCA” (breast cancer susceptibility genes). Leveraging BRCA testing, the company generated $2 billion in revenue. However, the company’s fortunes took a turn in 2013 when the U.S. Supreme Court invalidated its core patents, stripping it of its monopoly on BRCA testing. Other laboratories began offering such tests for only a few hundred dollars—a fraction of the $4,000 charged by Myriad Genetics.

Myriad’s revenue declined, failing to reverse the company’s downward trend even after Hollywood star Angelina Jolie publicly announced her BRCA test results from Myriad and her subsequent mastectomy, which had raised public awareness of Myriad’s BRCA testing. The company’s current stock price is half of what it was before the court’s ruling.

In a desperate bid for survival, Myriad has staked everything on an aggressive strategy. STAT has found that the company has begun employing tactics to undermine its new competitors. In interviews with STAT, genetic counselors, physicians, and rival companies reported that Myriad’s sales team has been active across China, spreading rumors that other companies’ BRCA testing technologies are flawed and may miss life-threatening genetic mutations.

In May 2013, Angelina Jolie announced that she had undergone a double mastectomy after testing positive for the breast cancer gene.

Following actress Angelina Jolie’s announcement in May 2013 that she had undergone a bilateral mastectomy after testing positive for a BRCA mutation, many women rushed to get tested for cancer-causing BRCA variants due to the “celebrity effect.” This is actually unnecessary. A research study published last month in The BMJ reached this conclusion:Celebrity endorsements can have a significant and immediate impact on the adoption of new healthcare technologies. They are cost-effective and can rapidly reach a broad audience; however, they may fail to effectively engage the subpopulations at highest risk for the underlying conditions.。

Other studies have also shown that the number of individuals undergoing BRCA testing increased significantly after Jolie’s public statement, a phenomenon attributed to the “Angelina Effect,” though the current impact is even more pronounced. Although insurance payment records indicate that among 10 million women aged 18 to 64, the number of those undergoing BRCA testing rose by 64%, this increase occurred within just 15 days after Jolie announced her BRCA test results and underwent surgery.

However, the number of individuals undergoing mastectomy has not increased accordingly.It was originally believed that an increase in the number of people undergoing BRCA testing would lead to a corresponding rise in the number of mastectomies performed.As explained by health economist Dr. Anupam Jena and Sunita Desai, a graduate student at Harvard Medical School: Once women learn that they carry cancer-causing BRCA mutations, they are more willing to undergo mastectomy than to endure the psychological torment of uncertainty.

However, the two researchers found that the proportion of patients undergoing mastectomy within 60 days after BRCA testing decreased. This proportion dropped from 10% (in the four months prior to Jolie’s statement) to 7% (in the eight months following Jolie’s statement, through the end of 2013).

This indicates that women who underwent BRCA testing following Jolie’s announcement had a lower likelihood of carrying BRCA mutations than those tested before her statement.Researchers suggest that women with a family history of breast or ovarian cancer undergo BRCA testing, but they also note thatMost women who underwent testing did not show an increased risk of cancer, sounding an alarm about the adverse consequences of celebrity endorsements for medical tests and treatments. According to their calculations, the cost of additional testing amounted to as much as $13.5 million.。

Genetic counselors, physicians, and women who tested positive for BRCA mutations sparked social media backlash against the study.

On one hand, the assertion that most women who underwent testing due to the “Angelina effect” tested negative (and should never have undergone such testing) is based on the low rate of mastectomies.

“Regarding cancer-causing mutations, researchers ‘do not know how many of these women tested positive,’” Mary Freivogel told STAT. A genetic counselor based in Denver, she was elected president of the National Society of Genetic Counselors. Therefore, asserting that “BRCA testing is unnecessary” represents an ill-advised leap.

Critics also argue that the 60-day period is too short to quantify the number of individuals who underwent mastectomy following BRCA testing.

In March 2015, writer Suzanne Zuppello identified a cancer-causing gene through BRCA testing, and in October, she underwent a double mastectomy. Such delays are common. It takes two weeks to receive test results, at least one week to consult with a breast surgeon and a gynecologic oncologist, several weeks to decide between surveillance (frequent breast imaging) and surgical intervention (both approaches offer equivalent efficacy for BRCA-positive women), additional weeks to schedule necessary preoperative breast X-rays or magnetic resonance imaging (MRI), considerable time spent agonizing over the decision to undergo surgery, and at least one week to secure an appointment with the operating surgeon, Zuppello wrote in the media. All these factors delay the mastectomy that many patients wish to undergo as soon as possible after receiving positive BRCA test results.

The assertion that women affected by the “Angelina effect” are not in the high-risk group (as recommended for BRCA testing),Another peculiar explanation is that it is difficult to have insurance companies bear the $3,000 testing fee.。

These women have almost never undergone testing, unless they have a family history of breast or ovarian cancer (as Jolie stated). Following an analysis of insurance coverage by researchers at Harvard University, experts indicated that the cost of this test is likely covered by insurance, as these women represent the most appropriate candidates for coverage (rather than those who blindly emulate celebrity actions out of panic).

“We don’t know how many people meet the guidelines for BRCA testing,” said Freivogel, but insurers have stated that “most of these women likely do meet the criteria for testing.”Furthermore, upon learning of a BRCA mutation, many women opt for surveillance rather than mastectomy, partly due to concerns about undergoing such a life-altering surgery.。

Prior to Jolie’s public statement, women who underwent this test may have differed significantly from those who had previously taken other tests: they had no family history of the disease and all their clinical indicators were normal, yet they were too afraid to undergo testing. It was only after Jolie’s courageous announcement that they found the courage to proceed.

It is precisely this fear and tendency that cause women to delay life-changing decisions, which also explains whyAmong women who underwent testing before Jolie’s statement, 10% had a mastectomy within 60 days after the statement, whereas only 7% of women who underwent testing after the statement did so.。

Harvard University’s Jena stated, “For many women, 60 days may be too short, which is absolutely true.” Although their primary finding was a decline in the number of mastectomies performed within 60 days following BRCA testing, the rates of mastectomy within both 90 and 180 days after BRCA testing were also lower after Jolie’s announcement than before.

“Given the ‘considerably high’ likelihood of undergoing mastectomy within 180 days,” Jena stated that the vast majority of women who underwent BRCA testing in the wake of Jolie’s announcement did not ultimately proceed with prophylactic mastectomy, most likely because their follow-up test results were negative.

This is a lengthy line of reasoning: not undergoing mastectomy within six months after BRCA testing implies that no mastectomy was performed; no mastectomy implies a negative BRCA test result; and a negative BRCA test result implies that women do not need to undergo testing. Clearly, such reasoning leads to a circular argument. Many consumer genetic tests are still in the research phase.

Editor’s Note:The views expressed in this article are compiled from publicly available online sources and do not represent the views of VCBeat.

References:

【1】https://www.statnews.com/2016/02/12/consumers-arent-wild-genetic-testing-doctors/

【2】 https://www.statnews.com/2017/01/05/angelina-jolie-brca-testing/

【3】http://www.bmj.com/content/355/bmj.i6357