Who Benefits from Genetic Disease Testing? Possibly You.

As all the world knows, actress Angelina Jolie had her breasts cut off as way to prevent breast cancer that she was very likely to get some day. Jolie took action after a genetic test revealed that she carried a variant of the BRCA 1 gene that boosted her lifetime risk of breast cancer to nearly 90 percent. So why shouldn't every woman take this test?

The usual response is that only 10 percent of women have this genetic risk of breast cancer. Writing over at the Washington Post's "She The People" blog, Lisa Friedman, a partner in the Enterprise Development Group in Palo Alto, California, does not find that figure all that comforting. Friedman explains:

Almost one in 10 of the women who get breast or ovarian cancer are born with a gene that could warn them. Advance warning could give them choices for early detection and even for prevention — but most of them still don't know.

In the U.S. alone, close to 300,000 women are diagnosed with breast cancer every year. That means 300,000 this year, 300,000 next year, the year after that, and every year until we find a cure. Globally,1.6 million women are diagnosed every single year….

Another 22,000 women each year will get the news that they have ovarian cancer—a diagnosis that is much more dangerous because by the time a woman feels symptoms, her cancer has most likely already spread. Without an early warning, a woman may feel fine until her cancer is no longer treatable. In the United States, more than 14,000 women each year die from ovarian cancer, known in treatment centers as "the silent killer."…

For nine out of 10 of these women, there currently is nothing we can do to help them in advance. Their diagnoses of breast or ovarian cancer are sporadic, random, impossible to predict. But 10 percent of these women can learn their risk ahead of time. They can take steps that make it extremely unlikely that they will ever get [this kind of cancer].

As it happens, Friedman's test result showed that she, like Jolie, was at higher risk and so she decided to get a prophylactic double mastectomy. It turned out to be too late, because she already had breast cancer.

Currently, the most comprehensive breast and ovarian cancer test is offered by Myriad Genetics for the steep price of $3,000 to $4,000. But Myriad's patent monopoly will soon end and be made irrelevant anyway by much cheaper whole genome testing. Even now, the genome screening company 23andMe includes testing for the three major BRCA variants that account for account for 80-90 percent of all hereditary breast and ovarian cancer cases among women with Ashkenazi Jewish ancestors. Anyone can get that test with lots of other genetic information for only $99.

It wasn't always the case that women were allowed to have this kind of genetic information so that they could make their own choices. Way back in 1999, my article, "Warning: Bioethics May Be Dangerous to Your Health," reported the case of Joy Simha:

In 1996, a 28-year-old breast cancer survivor named Joy Simha decided to take the new genetic test for the breast cancer gene BRCA1. If Simha tested positive for the gene, she would face a 50 percent to 85 percent chance of her breast cancer recurring or of developing ovarian cancer in her lifetime. As a preventive measure, she planned to have her remaining breast removed. But her oncologists at Sloan-Kettering Memorial Cancer Center in New York refused to tell her the results of her own test.

It was just a very paternalist attitude," Simha says now. "They kept telling me, `We really feel that the results could be dangerous if they are revealed to you at the wrong time.'" So Simha took her frustration to the press. "If I did not want to know the results of my tests," she wrote to The New York Times Magazine, "I would not have given the doctors my blood."

By refusing to reveal such test results to their patient, Simha's doctors believed they were practicing medicine at the highest ethical level; keeping patients in the dark in such circumstances has been recommended by such prestigious bioethics authorities as a 53-member panel of ethicists and lawyers chaired by Stanford University law professor Henry Greely. "The test for BRCA1 should be confined to the research setting," declared the panel's report which was presented at a conference at the University of Southern California's Pacific Center for Health Policy in 1996. The ethics panel advised women not to take the commercial test for BRCA1 because "there are no known methods for preventing breast or ovarian cancer that would be particularly important to women with versions of these genes."

Nor is the panel at the USC conference alone in its opinion. In 1998, George Annas, director of the Law, Medicine, and Ethics Program at the Boston University Schools of Medicine and Public Health, conceded that the carrier of the BRCA1 gene has a high risk of contracting breast cancer. Nevertheless, he argued in his book, Some Choice: Law, Medicine, and the Market, "Since there is no way to prevent this disease, what good is knowing you will probably get it in the future?" Francis Collins, the director of the Human Genome Project, agreed in U.S. Senate testimony in 1996 that the BRCA1 test should not be commercially available to women. According to Collins, the information that a woman might get from such a test is "toxic."…

But Simha's story has a happy ending. As a result of the press attention, her doctors relented and gave her the test results. She had tested negative, and she dropped plans for another mastectomy. Far from having a "toxic" result, the test actually helped Simha avoid another dangerous and painful procedure.

And the bioethical paternalists were wrong even back in the late 20th century about there not being anything women could do with the genetic test information to prevent breast cancer. As I noted:

Furthermore, the Pacific Center was wrong in stating that there is no way to avoid breast cancer. A Mayo Clinic study published in January in The New England Journal of Medicine found that "surgery that removes the breasts as a preventive measure before the appearance of cancer reduces the risk of breast cancer by approximately 90 percent for women at moderate to high risk for the disease." That is precisely the treatment that Simha had planned.

The most important point, however, is:

But though the Mayo study is important, it is beside the ethical point: Even in the face of medical uncertainty, such decisions should be up to Simha and other at-risk women, not a panel of imperious bioethicists.(emphasis added).

Sadly, bioethical paternalism with regard to genetic testing remains rife. For example, see my 2013 blogpost, "Besides Paternalistic Bioethicists and Doctors, Who's Afraid of Their Genomes? Nobody Much."

Again, hooray for Ms. Jolie and Ms. Friedman for telling women that genetic information is not, as Collins once claimed, "toxic," and that they are competent to make decisions about their own health.

Disclosure: I am a very happy customer of 23andMe. The company tells me that I do not have the BRCA variants that also significantly increase the risk of prostate cancer.