F

orty years ago, when the first at-home pregnancy tests became available, some physicians warned against their use. They thought women might not be able to handle such information on their own and claimed that the results might trigger them to make irrational decisions — some went so far as to claim it would lead to suicides. Looking back, it seems unthinkable that we questioned women’s ability to access this kind of information.

My company, 23andMe, recently received FDA authorization for the first ever direct-to-consumer genetic test for an inherited risk for cancer. Specifically, it tests for variants in the BRCA1 and BRCA2 genes known to significantly increase chances of developing breast and ovarian cancer. Historically, access to this type of testing has been gated by insurance companies and couldn’t be obtained without an order from a physician or genetic counselor. Making this kind of test directly available to consumers is a huge milestone in empowering people to be in control of their own health information.

I was disappointed to see that some of the initial reaction to this FDA authorization had a similar tone as the early reaction to at-home pregnancy tests. Some critics believe that people can’t handle this kind of information on their own, and that learning about a genetic cancer risk should be conveyed only by medical professionals.

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I disagree.

While doctors and genetic counselors play an important role in delivering health care and health information, I am an advocate for consumers having more direct access to personalized information so they can take charge of their health. Making genetic testing affordable and accessible enables more people to learn important — and potentially lifesaving — information about themselves.

We know from our research and the work of others that you don’t have to be an expert to handle genetic health risk information. People do not base rash or ill-informed decisions about their health on it. We also discovered through our research that a number of our customers who learned that they carry potentially harmful BRCA-related genetic variants never knew they were at risk for breast or ovarian cancer and would never have been tested for them through the traditional system. For some of these people, the information they got from a direct-to-consumer genetic test truly saved their lives.

As part of the FDA authorization process, 23andMe had to demonstrate that we can deliver genetic risk information to customers in a way they understand. In rigorous studies submitted to the FDA for our previously authorized Genetic Health Risk Reports, which are similar to our BRCA1/BRCA2 report, we demonstrated user comprehension of 90 percent or greater.

The BRCA1/BRCA2 report has limitations, and we worked hard to make sure that customers will be able to clearly understand those limitations. We clearly disclose that we do not test for all possible BRCA gene variants and that the test cannot diagnose breast or ovarian cancer. The report also makes it clear that many other factors outside of genetics influence one’s risk for cancer.

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This 23andMe test looks at just three variants among the thousands of mutations that contribute to cancer risk. These variants are found mostly in people of Ashkenazi Jewish ancestry. But they are the most well-studied BRCA risk variants, and having one of them — no matter one’s ethnicity — could mean an increase of 45 percent to 85 percent in the chance of developing breast or ovarian cancer by the age of 70. Several studies have shown that as many as 50 percent of people with one of these mutations wouldn’t qualify for breast or ovarian cancer screening under current medical guidelines. These people likely would not be prescribed a genetic test, and thus have no real options for learning this information if not for openly accessible consumer genetic testing.

Now that the BRCA1/BRCA2 report is available, we know that among our existing customers, several thousand will learn they are carriers of one or more of the variants we test for. Without affordable and direct access to this critical information, many would never know they are at high risk for cancer.

I applaud the FDA for recognizing that people want personalized health information about themselves, and that there are responsible ways for making that information accessible. As is the case for at-home pregnancy tests, I believe that years from now we’ll look back and wonder why we questioned that individuals would be able to understand and responsibly act on carefully delivered health information.

Anne Wojcicki is the CEO and co-founder of 23andMe.

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  • The article is based on a faulty comparison of the home pregnancy test to 23andMe’s direct to consumer (DTC) genetic test for hereditary cancer risk.

    Wojcicki argues that when pregnancy tests were first developed, many medical providers did not support their use because they didn’t feel women could ‘handle’ such information. Of course, now the idea of restricting the availability of pregnancy tests seems paternalistic and unfounded. But comparing the complexity, necessary level of comprehension, and potential subsequent ramifications of pregnancy test results to cancer genetic test results is irresponsible and shows a lack of appreciation of the stark differences between the two.

    Pregnancy tests give you one of two answers, and it’s very clear what each of those answers mean: a ‘+’ means you’re pregnant, and a ‘-’ means you’re not. Pretty straightforward.

    With cancer genetic testing, a ‘positive’ generally comes with well-established guidelines that outline the specific risk and recommendations for screening and/or prevention. Many people with a limited background in healthcare, and even those within the healthcare field, find it difficult to know where to begin the process of establishing care for hereditary breast cancer. And more concerning is that a negative result, in the context of 23andMe’s testing, doesn’t mean that a person may not have higher risk for hereditary breast and other cancers. Rather it only means that the three mutations they screened for were not found. There are over 1,000 known mutations in the BRCA genes, and most people who have a BRCA mutation will not have one of the three 23andMe tests for.

    Wojcicki also touted a 90% or greater comprehension on their ‘Genetic Health Risk Reports’. It is unclear what was evaluated with these comprehension studies. As a genetic counselor, I find that even after a lengthy conversation about a very specific topic, such as hereditary cancer risk, patients still have questions or gaps in understanding of the meaning of their test results for their health and cancer risk. To receive information in a report with no other context buried amongst other health information is surely not the most effective or efficient way to communicate information that could potentially have significant ramifications.

    As much as Wojcicki and 23andMe want to promote ‘you don’t have to be an expert to understand genetics’, recent unfortunate cases demonstrate the harms that can result when these tests are misused or misunderstood. Wojcicki says in her opinion that ‘(P)eople do not base rash or ill-informed decisions about their health on [genetic health risk information]’. As the above article demonstrates, that is not at all the case.

    Meeting with a medical professional who has a background in genetics can help to put any genetic test results into context for a person, but also for family members who could also be at an increased risk. In fact, with the FDA authorization that Wojcicki applauds in her article, also came a warning that “the use of the test carries significant risks if individuals use the test results without consulting a physician or genetic counselor.” 23andMe also does have this disclaimer on their website, although it is in extremely small print. And some surveys have shown that up to 91% of people sign off on terms and conditions such as this without reading them. It seems reckless and irresponsible for Wojcicki to publicly promote her opinion that experts are not needed to make valuable use out of this information while the disclaimer on their website supports the contrary.

    Wojcicki also touts the medical benefits of finding out you carry one of the three BRCA mutations that 23andMe tests for. However, on 23andMe’s Terms of Service, they state, ‘The Genetic Information provided by 23andMe is for research, informational, and educational use only’, and ‘The Services are not intended to be used by the customer for any diagnostic purpose and are not a substitute for professional medical advice.’

    There seems to be some dissonance between 23andMe’s legal disclaimers and marketing which seems to encourage consumers to take medical action based on their results. The finding of a deleterious mutation in BRCA gene provides a molecular diagnosis of Hereditary Breast and Ovarian Cancer syndrome (HBOC).

    Furthermore, the FDA said in their released statement that ‘Consumers and health care professionals should not use the test results to determine any treatments, including anti-hormone therapies and prophylactic removal of the breasts or ovaries. Such decisions require confirmatory testing and genetic counseling.’

    The primary marketing message behind 23andMe and other DTC tests is that empowerment will come through access to personal genomic information . While such information can be a building block toward empowerment, it cannot stand alone. To be fully understood, it needs to be considered within the context of a person’s own health and family history. Few people have the comprehensive medical knowledge to interpret the nuances of their own genetic testing results and how they relate to their individual circumstances.

    Healthcare professionals with expertise in genetics, such as genetic counselors, can provide the perspective that can ensure that the most appropriate tests are utilized within the proper context. They can also provide direction and support to enable people to truly act in their own best interest. Genetic information with context and the support necessary to take steps towards better health can be truly empowering.

  • Anne Wojcicki stated in her piece that carrying one of these variants “could mean an increase of 45 percent to 85 percent in the chance of developing breast or ovarian cancer by the age of 70.” Is this a demonstration of 23andMe’s ability to effectively communicate implications of these test results to the public? Because she got it wrong. Carrying one of these mutations causes an increase to a cumulative lifetime risk of about 45-85% for breast cancer. That is roughly 4 to 7 times the general population’s lifetime risk. So the increase in risk is 300 to 600 percent, not 45 to 85 percent. And, the cumulative lifetime risk for ovarian cancer is different from that of breast cancer and varies depending on which gene we’re considering. It seems that this information may be more complex than Ms. Wojcicki has understood…maybe it would help if she met with a genetic counselor.

  • To the previous posters objecting to this article, I must say that you make the usual mistake of the last 100 years, in conflating certification by some academic hierarchy with demonstrated lack of self-interest in yet another medical topic. Since the AMA was founded in the 1830s, with the express purpose of securing State monopolies on medical practice for those the AMA’s friends certify, we have seen attempts to limit both medical practice and acknowledgement of competence spread ever wider with each new technology. Your objections to 23&Me are seen in the same vein as the last 180 years of efforts to secure market control.

    People no longer believe that there are disinterested comments coming from monopolists in general, so why should they believe it from you? The false dichotomy stated by Teresa Masters sums up your attitudes, …”Is 23&Me humanitarian or commercial?” The obvious answer being that it is, in fact, both, with all the usual attributes of *any* activity done by members of a species of large, obstreperously violent primates. Self-interest is *always present. Caveat Emptor.

  • I suspect the FDA reviewers think they are being kind in their attempt to protect me from information about myself, but this blatant gnostic paternalism makes me question their judgment in all areas, not just as it relates to DNA analysis. Managing my emotional well-being is not part of the FDA charter, nor is protecting me from potentially-distressing aspects of reality.

    The arguments from the healthcare professionals for suppression of this information reek of a desire to protect their income: “This data should only be available to people who pay me for a professional consultation.”

    • David D
      As one of those who earns a living by my knowledge and by charging people who need that information I have to agree with you 100%
      I have worked with the FDA for 30 years and it is a constant issue between them being a gratuitous parent looking after its flock and what it really is, an agency created to protect Americans from poor quality or poorly designed products or worse nefarious unscrupulous companies out to hurt us, period.
      There is no doubt that Anne’s company 23 and Me is not evil does a fine job especially being shackled like she is by the FDA and eventually when enough data is collected will find some amazing new inroads to disease and genetics we never even thought to suggest where related
      I have NO problem with trying to protect people but as you pointed out we don’t need to be treated like children to withhold every potentially negative fact in order to not have us get upset or worse make us feel desperate
      Anyone who assumes that as one poster suggested that because their test shows that they have a “predilection” to a certain disorder and then uses that genotype to make medical decisions is ridiculous and any provider stupid enough to allow that type of pressure to guide their decision process needs to have their license to practice seriously evaluated.
      The data collected is only going to help the world. Allow her to collect more and tie the actual sequences to more and more potential diseases and we open the door to real healthcare modification.
      Imagine if thru the huge data collection process it is found that a genetic sequence that was thought to only regulate eye color actually is directly related to colon cancer or cardiovascular disease.
      We can ONLY determine thru MASSIVE data collection and mining the potential relationships that exist
      Too bad the FDA is too small minded to see that
      Maybe 23 and Me is still allowed to mine the raw data in the background without telling us the results until the results are more profound.
      One can only hope
      As far as my colleagues who suggest that only us with educational understanding and licenses should hold the keys I can’t and don’t agree
      Knowledge is king and I say let the people reign
      Dr. Dave

  • The comparison between predictive genetic testing (BRCA testing for the three AJ founder mutations, as offered by 23andMe) and a pregnancy test, is a poor one. A pregnancy test diagnoses an active medical “condition” (pregnancy). There is nothing to interpret. The test is positive or negative, with the caveat that false positives and negatives can occur, of course. A negative result does not have different meanings depending on family history and whether or not other family members have taken the test, as it does with BRCA testing. A positive result doesn’t tell you that your siblings and children are at a 50% chance of also being pregnant, whereas a positive BRCA test does tell you that your siblings and children have a 50% chance of also testing positive and thus having the same increased cancer risks.

    As someone working in the medical genetics community, I have had patients come to me with clear misunderstandings about their 23andme genetic test results, so the headline stating that ‘consumers don’t need experts to interpret 23andme test results’ has, in practice, proven to be false. And admittedly, that the CEO of 23andMe has penned an article so clearly demonstrating her personal lack of understanding of the implications of hereditary cancer testing, has certainly raised my level of concern about this company.

  • If you think you’re getting accurate genetic testing results for $199 I have some beach front property in Arizona to sell you. 23andme is a gimmic by getting FDA approval for only a couple variants and then the consumer believes the whole test is valid when it’s been published that a very large number of their test results end up being false.

  • Exactly, they seem perfectly capable of sharing the information to the ‘patient’ or consumer or highest bidder. Life/Health Insurance anyone?

  • Although the piece alludes to the fact that only some of the most variants of BRCA will be reported in 23 and Me, it will be crucial to ensure that patients understand what this means. Not having one of these few common pathogenic variants is NOT the same as having the BRCA 1/2 genes sequenced and being found not to have a mutation. I worry that despite their stated efforts to inform patients that some patients will see no BRCA 1/2 mutations identified and feel falsely reassured they have undergone “BRCA testing.”

  • It would be helpful if STAT labeled this piece as an infomercial. Yes, the author clearly says, in the second paragraph, “My company” and yet many readers seem to take the statements in it as if they were peer-reviewed scientific proofs, rather than a sales pitch. Strangely, this is exactly the problem with the company’s presentation of test data: the caveats are included, but it’s only human to jump to the “conclusion.” This is also exactly true of the company’s business model, which relies on selling data to consumers and then re-selling it to pharmaceutical companies. This, too, is mentioned on the company’s website; but many people are surprised to hear it. Don’t take anything you read in an advertisement on face value.

    • Pete —

      The article is labeled at the top as “Opinion” which is reinforced by the OPINION label on any social media accompanying it.

      Pat Skerrett
      Editor, STAT’s First Opinion

    • Exactly, they seem perfectly capable of sharing the information to the ‘patient’ or consumer or highest bidder. Life/Health Insurance anyone?

  • 23andMe has been a leader in affordable genetic testing, in DTC testing, and in putting ancestry and medical data in the hands of the individual, where it belongs. It is extending the potential of precision medicine – and precision devices (what we really need for patient safety and health) – beyond oncology into many other fields, including functional medicine.

    • BRCA was “patented” when my Pathways DNA was done. Took the Supreme Court to declare against.
      Medical wisdom has declared and in some States still decides what each individual should know about their own body. 23&Me does as well. BRCA if present may impact men insofar as prostate cancer is concerned. That also should be an awareness. “Equal Rights”
      How about APOE? Why not?
      Is 23&Me humanitarian or commercial?

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