August 9, 2019

What it's like to get 'devastating' health news from 23andMe

Daily Briefing

    Like millions of others, journalist Dorothy Pomerantz decided to have her DNA analyzed by 23andMe, but she "was devastated" when her results showed a significantly increased risk of breast and ovarian cancer. Pomerantz in a STAT News opinion piece reflects on what it was like to receive the life-altering news via email instead of from a counselor.

    What providers need to know about genetic testing

    Pomerantz's story

    As a journalist, Pomerantz describes herself as "naturally curious," so last summer she completed 23andMe's home DNA testing kit, hoping to learn whether she could "blame [her] penchant for salty food on [her] genes."

    But rather than being fun, the results left her in "tears," Pomerantz writes. She opened the email containing her results and learned she had the BRCA1 gene mutation, which puts her at a significant risk of developing breast and ovarian cancer. Pomerantz writes that, after some searching on the internet, she learned that 72% of women with a BRCA1 mutation develop breast cancer, and 44% develop ovarian cancer.

    After spending 20 minutes researching the mutation, Pomerantz recalls that she "felt like [she] couldn't breathe anymore." So she turned to her gynecologist, who referred her to a breast doctor at Cedars-Sinai in Los Angeles.

    At Cedars-Sinai, Pomerantz's doctor said they should verify her results, and they ordered a new genetic test through "a hospital-approved lab." A few weeks later, a genetic counselor called Pomerantz and "confirmed the mutation."

    Ultimately, Pomerantz decided the best path forward for her was surgery. She elected to have her ovaries removed and underwent a mastectomy with implant reconstruction.

    The problem with getting bad news in an email

    While Pomerantz was ultimately able to connect with a genetic counselor and pursue treatment, she remains concerned about how she initially learned of her condition. Receiving the results via email, Pomerantz writes, was "the worst way possible."

    Pomerantz explains that "23andMe replaces [a conversation with a genetic counselor] with a digital tutorial that every user must go through before she or he can view results for any of the reports the company deems sensitive." However, for some patients that might not be enough, Pomerantz suggests. "I hate to admit it, but I clicked through that tutorial without paying it too much attention," Pomerantz writes.

    According to Pomerantz, speaking with a genetic counselor was a "totally different" experience. The counselor, Pomerantz explains, "was sympathetic and knowledgeable. … She left me feeling that while I had a difficult road ahead, I was going to get through this."

    Altovise Ewing, a medical science liaison for 23andMe, said, "We recognize that people will have different responses to the information presented. We always encourage customers to have the results confirmed in a clinical setting where they can engage in conversation with a health care provider."

    Pomerantz writes that while she understands "it's unreasonable to expect 23andMe to have counselors on hand to talk customers through difficult results, it's hard not to wish that option had been available to me and other people who get bad news."

    Nonetheless, Pomerantz writes that she is ultimately grateful she learned about her BRCA1 mutation in her 23andMe test. If she hadn't, she writes, "I likely would not have seen a doctor and a genetic counselor and had my genes tested. And instead of being able to take preventive action, I would probably have ended up undergoing the same surgeries but with the added complications that come with chemotherapy."

    The broader debate over the risks of learning about life-threatening gene

    As at-home genetic tests grow in popularity, there's been wider debate over the potential consequences of learning one's genetic risk for life-threatening conditions.

    Writing in a separate opinion piece in STAT News, Erik Parens, a senior research scholar at The Hastings Center, and Paul Appelbaum, a professor of psychiatry, medicine, and law at Columbia University, note that while bioethicists have expressed concern that "the results of genetic tests would do [patients] a lot more harm than good," data suggest that such "concerns [are] overblown."

    For instance, they note that "first major randomized clinical trial on the effect of disclosing genetic information" related to Alzheimer's disease "found that people who decided to learn about their genetic risk of developing Alzheimer's disease did not experience large, negative psychological impacts."

    Further, "[t]he same held true for people who, after a process of informed consent, decided they wanted to receive information about single genes associated with Huntington's disease and breast and ovarian cancer," Parens and Appelbaum add. 

    However, Parens and Appelbaum acknowledge some caveats. For one, they note that "individuals are not averages." Parens and Appelbaum write, "There is evidence that some individuals do experience large negative psychological impacts from receiving genetic information."

    Second, Parens and Appelbaum note that "smaller-than-predicted negative effects don't mean no negative effects." They point to a study involving Alzheimer's disease risk that found that patients who were told they were at risk were more likely to show memory lapse than people who also had the risk but weren't told of it (Pomerantz, STAT News, 8/8; Parens/Appelbaum, STAT News, 7/30).

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