May 7 2014
by Todd Hixon

Do You Want To Understand Your Health Risks?

FDA Slaps Personal Genomics Startup 23andMe With Stiff Warning – Forbes.

Spit, Genes, and the FDA – Marketplace.

Linda Avey co-founder of personal genomics and...
Linda Avey co-founder of personal genomics and biotechnology company 23andMe (Photo credit: Wikipedia)


Huge buzz arose from news of the FDA’s warning letter to 23andMe, the personal-genetic-profile-for-$99 startup, demanding that it “immediately discontinue marketing its Personal Genome Service (“PGS”) until such time as it receives FDA marketing authorization” and warning that “failure to take adequate corrective action may result in … seizure, injunction, or civil money penalties”. You can find the full letter here.

23andMe, which has raised $160 million from prominent venture investors(1), is facing a crisis. Is this a case of bureaucratic hobnail boots trampling a scrappy, innovative digital health start-up? Are we being deprived of the right to know what destiny is written in our personal genetic codes?

This is a complicated matter. I’m parsing it into three issues:

  1. Gaining insight into how our bodies work and our risk for disease is very important.
  2. The genetic basis of disease is complex, and people might misinterpret genetic information.
  3. It’s a big mistake to let regulators think you are ignoring them.

1. 23andMe claims to provide insight into genetically-linked diseases and disease carrier status (eg, diabetes, breast cancer, coronary heart disease, lactose intolerance) and response to drugs (eg, Plavix, a blood-thinning drug prescribed for people at risk for strokes, more). It also provides information that helps analyze ancestry.

This is information that people need. For example, a friend’s family has suffered several cases of ovarian cancer. Some family members had genetic testing and discovered that a mutated BRCA gene is indeed descending through the generations. A harmful BRCA mutation raises the risk of Ovarian cancer over 10 times versus the population average (more). And ovarian cancer is rarely detected early because it has few symptoms until it is advanced. If a woman knows she is at risk, she can be monitored more closely, or she can choose to have her ovaries removed after child-bearing years. If a man knows he is a carrier, he can advise his children to be tested.

Diseases that are influenced by lifestyle, eg, coronary heart disease and diabetes, are among the major public health challenges of our age (more). Healthy living does a lot to reduce risk: eg, stop smoking, get exercise, lose weight, eat more veggies/fiber and less fat/carbs, and see your doctor regularly. The problem is, these things are hard, and many people ignore the risk. If genetic information can get people motivated, that’s a big plus.

2. Understanding genetic information is tricky. For example, it’s well known that BRCA gene mutations are linked to breast cancer. However, inherited familial risk is a strong factor in only 5% of breast cancer cases. But, a woman with a harmful BRCA mutation has a 60%-80% chance of developing breast cancer in her lifetime, versus a 10%-12% chance for an average woman (sources: 12). Men have much less risk of breast cancer, but they can pass the gene to their daughters. So, if you have the gene, there is grave risk and you need to get medical advice. If you don’t have the gene, your risk is still close to the population average: over one woman in ten.

And, test results are often less than 100% accurate. Sometimes there are false positive results (finding BRCA mutation where none exists) or false negative (failing to find the mutation when it does exist). Hence, a positive result often needs further testing to confirm the result, and a negative result may not eliminate risk. Prostate Specific Antigen (PSA) testing in men to identify prostate cancer is a good example: it has a high percentage of false positives, and results have to be interpreted carefully.

Hence, it’s clear that people need skilled advice to interpret genetic information, and particularly to evaluate the options for mitigating risk, e.g., prophylactic removal of breasts or ovaries. And, there is risk that without this advice, some will draw the wrong conclusion: eg, interpret the absence of a harmful BRCA mutation to mean no need for mammograms and self-screening.

But, does that mean that we should be prevented from accessing our genetic information unless we go to a genetic counselor? This costs several thousand dollars, which is out of reach for many people. I think not. We all need to take ownership of our health. That means we need to know what our risks are, what is going on, and when to seek help. The best response from the health care system is to educate people to know what this information means (to the extent an average person can) and know when to seek help. It’s much like other health problems: we need to know enough to seek help with chest pain, a lump in the breast, or a skin wound that does not heal.

3. The FDA’s letter is not hard to understand. They assert that PGS falls within a category of products that need to receive an approval before it can be sold legally in the U.S. FDA believes that the accuracy of PGS has not been adequately demonstrated: “we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended use.” And FDA recounts a long series of interactions with 23andMe leading up to the warning, and concludes that 23andMe has failed to provide information to validate its tests that was requested and promised to the FDA, and 23andMe is nonetheless marketing the PGS. The statement 23andMe posted on its website acknowledges the letter but sheds little light on why they have proceeded as they have (more). I don’t know both sides of the story here, but it’s plain that the FDA believes 23andMe has flaunted regulations and the regulatory process.

My conclusions: people should not be denied a cheap and easy access to their genetic information. But, they need education and advice to help them use that information wisely. And, while I am no fan of regulation, I see an obvious need for enforcement of quality standards for medical diagnostic tests.



  1.  Including NEA, Mohr Davidow, Google Ventures, and Sergey Brin.

[This post first appeared at on November 20, 2013.]



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