Home delivery for everything from fresh produce to custom-selected clothing has become a way of life for many Americans. While most home-delivery conveniences are generally changing our lives for the better — giving us more time and choices — at-home genetics kits that reveal information about the risk of developing certain cancers represent a risky step in our on-demand culture.
The FDA recently gave 23andMe the green light to sell the first direct-to-consumer tests for mutations in the BRCA1 and BRCA2 genes, which are linked to serious risks of developing cancer. All a buyer has to do is ship a saliva sample to the company. Six to eight weeks later, the results are delivered through an online portal.
Mutations in the BRCA1 and BRCA2 genes were initially linked to breast cancer, hence the names (“BReast” and “CAncer”). We now know that they also increase the risk of ovarian, prostate, and pancreatic cancer. Women with mutations are at least five times more likely than women without them to develop breast cancer, and up to 20 times more likely to develop ovarian cancer. Men with BRCA2 mutations are at much higher risk of developing an aggressive form of prostate cancer.
Learning you have a BRCA mutation can be life-altering for patients and for their family members, who may also carry the mutation. In my work as a medical oncologist specializing in the management of inherited cancer, I help individuals understand their cancer risks along with strategies for cancer prevention and early detection. For most people, this is a complex and stressful conversation.
When a BRCA1 or BRCA2 mutation is discovered early, the information can be lifesaving. Women ask me: Should I have my breasts removed and, if so, when? I know I need to have my ovaries removed, but I am worried about menopause, so how long can I wait? When do I tell the man I am dating that I have a BRCA mutation? Men ask me about their risk of prostate cancer. Almost everyone worries about passing the mutation along to their children.
In our clinic, we generally set aside an hour for the initial discussion, with additional discussions over time. The same is true in similar clinics across the country. This kind of discussion and explanation isn’t something you’ll get with your 23andMe results.
Over the past decade, researchers have made fundamental advances in our knowledge of inherited susceptibility to cancer. We also now have targeted therapies, including a recent FDA approval for BRCA-associated metastatic breast cancer.
But there’s more to breast and ovarian cancer risk than BRCA1 and BRCA2. Genetic tests that I and other physicians order can evaluate up to 30 such genes. For most individuals with a strong personal or family history of cancer, insurance will cover the cost of tests a health care provider orders.
In contrast, the test available through 23andMe generates an incomplete picture (and you pay the full cost out of pocket).
A patient who came to my clinic in 2012 is an example. That was a year before the FDA warned 23andMe that it was marketing a diagnostic tool without approval, and highlighted the danger of the potential health consequences of false positive or false negative results. This patient — let’s call her Jane — told us about a very significant family history of cancer. Her sister died of ovarian cancer at 48, her mother at 62. Her maternal aunt was diagnosed with breast cancer at 49, and her maternal grandmother with colon cancer at 46. Jane had done testing through 23andMe and was under the impression that she was negative for BRCA1 and BRCA2 mutations.
Here are the problems:
Jane was not of Jewish descent. There are thousands of known mutations in the BRCA1 and BRCA2 genes. 23andMe tests for just three of them, and these three are commonly found among individuals of Ashkenazi Jewish descent. But the test is unlikely to be useful to those who are not of Ashkenazi descent; further analysis is needed. That means Jane may have a BRCA mutation even though 23andMe did not report one.
BRCA1 and BRCA2 are not the only cancer genes. Mutations in many other genes also increase the risk of breast and other cancers. These other genes are also important in understanding your risk. Families with Lynch syndrome, for example, have an increased risk of ovarian, colon, and uterine cancer due to non-BRCA genes. Based on Jane’s family history, she needed to be tested for this syndrome. Without including other genes, her testing would have been incomplete and not useful.
Family history matters. Even if Jane does not have a BRCA mutation, she still has a significant family history of cancer, which calls for enhanced screening and prevention strategies.
The best information is actionable. The best way to use genetic information to improve your health is to work with your health care team to interpret test results in the context of personal and family history.
Jane’s misunderstanding of her 23andMe results led her to underestimate her cancer risk. We tested her for 25 different cancer-related genes. She did not have a specific mutation in any of these genes. Even so, we recommended increased screening and prevention options on the basis of her strong family history. We also recommended that other members in her family be tested to see if we could identify the family’s specific genetic risk.
Genetic testing can be lifesaving, but it must come with all the facts — which are mounting by the day — and appropriate professional support to help individuals live and plan for the best chance of a healthy life, no matter what the results reveal. That’s something a mail-order kit just can’t do.
Susan Domchek, M.D., is executive director of the Basser Center for BRCA at the University of Pennsylvania and a medical oncologist in Penn’s Abramson Cancer Center. She reports having received honoraria from AstraZeneca, Clovis, and Bristol-Myers Squibb.
It is good to have more doors open for patients to have more access to information concerning their health, and of course to have full access and ownership of their medical records and test results, something that is relatively new in the scheme of things. Patients often self-select where they start based on access, awareness of options, cost, and other factors, and may start with one door, and progress to others.
I would love to see the same type of careful attention that genetic counselors offer patients for cancer, in toxicology for chronic diseases. How many people have been silently harmed by toxic mold exposure in the home or the workplace? By chemicals and pesticides that show up in our tissues? By mercury exposure from dental amalgam fillings or fatty fish? By additives in the fine print of many food products? By medical or dental device materials which may not be “right for you” given your genetic variants and immune response, as biocompatibility screening is rarely advised in advance?
Perhaps this is another area were genetic counselors, cross-trained in toxicology and functional medicine, could offer great value.
I literally had this exact conversation with a young lady about 15 minutes ago. Several of the good clinical genetics labs offer complete reliable testing for BRCA 1 &2 for as low as $300 now so I counseled her to think about waiting until she could afford the more complete testing rather than spending money for the limited testing offered by the direct to consumer testing company. I think in the long rum more women will be hurt by this than helped.
For <$300, she could have more comprehensive testing than just BRCA1/2. Testing quality and accuracy definitely does vary by laboratory too. If she has significant family history though, her insurance is likely to cover testing.
Excellent article — I would like to see the medical/genetics community take a stronger stance against this. The benefit of detecting a positive BRCA mutation with this “at-home test” seems to be significantly outweighed by the combined risks of a) false negative tests, b) lack of appropriate counseling, and c) general consumer misinformation.
The customer needs to be told sometimes that the customer is not always right.
I disagree. Granted, 23andme test is completely incomplete and federal oversight should mandate that DTC companies spell that out clearly for consumers. But this is more about empowering the consumer and easing up ever so slightly the staunch paternalism that is rampant in the medical community (and I am a scientist studying medical genetics). The myth that someone upon learning they are BRCA mutant+ will rush to cut off their breasts and ovaries is hysteria. They would still need to see an oncologist and genetics counselor and surgeon. While i concur that 23andme’s platform is wholly incomplete and rife with hyperbole, they are first movers, along with Helix, in this space that will mature and advance humanity.
I actually don’t think we disagree that much; though our views are slightly different. Granted, my last remark was probably a bit glib.
I agree that paternalism in medicine is problematic, and I am not a supporter of consumers/patients GENERALLY being told what they can and cannot do without dialogue, consent, justification, etc. I also agree that a boundary needs to exist between consumers/patients and their access to these tests. If I’m performing this test in the hopes of learning where my ancestors came from, fine — it’s difficult for me to see the harm in that. If I want to know if I might carry a gene that confers an increased risk of cancer and could subsequently lead to additional testing/treatment, I should really be discussing this with my doctor or some other expert who has an understanding of the foundational issues (that I, the consumer, probably lack).
I don’t want to stifle the companies that offer this testing; there is incredible potential in this industry. I simply don’t believe unfettered access to medical testing is a net positive.
Ideally, patients should discuss testing with a genetic counselor or an informed healthcare provider. Practically, I think some of the interest in DTC testing is coming from the fact that genetics and family history is Not being addressed when patients see a physician. Physicians often aren’t very informed about genetics, and even when they are–physicians have less and less time to spend with patients, and going over family history and having a meaningful conversation with patients about genetic testing just isn’t practical. The result of an insistence on lengthy pre-test counseling and genetic counseling requirements before testing has been that patients often just don’t get offered testing at all. A survey published in JAMA last year indicated that only 50% of >700 newly diagnosed high-risk breast cancer patients had testing done. Most common reason for not getting testing done? Their doctor didn’t recommend it to them. The author is one of the most recognized names in hereditary cancer genetics. Patients who get to spend “an hour for the initial discussion, with additional discussions over time” with her or a genetic counselor in her clinic are fortunate. But this is not a model that can scale to meet public health needs and it ends up worsening disparities in healthcare and health (as does DTC testing).
Most of the (print) news coverage I have seen has done a good job of highlighting the limitations of this testing. I appreciate that this article points out that more comprehensive testing is often covered by insurance. As genetics professionals, we often see the harm of DTC testing—or the harm of a patient who was misinformed by a non-genetics healthcare provider about the hereditary cancer risk and genetic testing. It is possible that good will come of this testing too— true positives that would not otherwise be identified and greater awareness of the availability and medical actionability of hereditary cancer testing generally.
E, what has been left out .. how good is the data security? That is: if you were Type 1 diabetes, would you really want it, on a data site, with questionable security? Could that possibly damage your employability and/or insurance rates?
Don’t use your real name. Use a P.O. Box.