Direct to Consumer Genetic Testing and the Over-Production of Genetic Information

bernstein-gaia-lgCross Posted at HealthLawProf Blog

23andMe, the Internet genetic testing company, which offered genetic testing for health conditions and ancestry, has received extensive publicity in recent months. In November 2013, the FDA ordered 23andMe to stop marketing its health-related genetic test results to customers because their product is a “device”, which requires FDA approval. In its letter to 23andMe the FDA focused on the harms of consumers’ interpretation of genetic test results without the appropriate medical guidance.

And for sure, consumers’ independent interpretation of genetic results is potentially harmful. But, another important concern not addressed by the FDA is the need to regulate and constrain the production of genetic information in the first place – at the time that a consumer decides which tests to take. Direct to consumer genetic testing companies, like 23andMe, usually offers a battery of multiple tests that the consumer purchases without careful selection of what information is desirable to her. And, although genetic information can help improve and control health outcomes, not all genetic information is made equal and not all tests results are similarly desirable for all people. In my essay Direct to Consumer Genetic Testing: Gatekeeping the Production of Genetic Information, I discuss the problem of indiscriminate production of genetic information and argue for the need for a medical gatekeeper not just for the interpretation of genetic test results but earlier on to guide consumers through the selection of tests.

The guidance of a medical practitioner (particularly a genetic counselor) at the test selection stage is important to avoid the production of genetic information that is unsuitable for the specific person who wants to undergo testing. First, some people may prefer not to know certain genetic information about themselves because there are no effective preventive measures, and they do not want to live with the knowledge that they are likely to incur a certain genetic disease. For example, currently, the most effective prevention for breast cancer is a mastectomy. Some women would welcome the information and the ability to prevent the disease. But, others may not view this as a preventive measure they can endure and would prefer not to undergo a genetic test for the breast cancer genetic mutations. Second, some genetic tests convey little information. Certain positive genetic test results indicate only a slightly higher probability of incurring the disease than the likelihood in the general population. Finally, some genetic tests may lack solid scientific validity, whether due to the state of the science or the effect of many mutations and environment factors that act in conjunction. For all these reasons, catering the selection of genetic information to the person testing can be as important as regulating the interpretation of the results stage.

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Direct to Consumer Genetic Testing — The Need for Early Filtering of Genetic Information

bernstein-gaia-lg[Ed. Note: We are pleased to welcome Professor Gaia Bernstein to Health Reform Watch. Articles about her recent scholarship, "Over-parenting," may be found at the ABA Journal and The New York Times Magazine.]

Genetic testing for adult onset diseases used to be mainly a medical service. In most cases a person who had a certain genetic disease that was prevalent in her family would go to test to see if she carries the genetic mutation. For example, a woman who had several cases of breast cancer in her family would test for the breast cancer genetic mutation BRCA1/BRCA2 to see if she carries the mutation and has a high probability of getting the disease. But, the proliferation of direct to consumer genetic testing changes the nature of the service to a consumer service. Companies like 23andme and Pathway Genomics (who was planning to start selling its kits in Walgreens) offer consumers the option to buy packages of tests (ranging from 25 to over a 100 conditions). Consumers often buy the tests to satisfy their curiosity or they may even receive them as a gift. People purchasing the testing packages usually do not consult a medical professional when deciding to undergo the tests and receive the results alone by accessing a website.

Yesterday I spoke before the FDA, which is considering regulating direct to consumer genetic testing. My presentation was based on a symposium piece I am working on. I argued for the need for a medical professional to guide people throughout the process and advise them not just on the interpretation of the results but also earlier in the process to determine what genetic information they actually want to have.

Interpreting the results of genetic tests is not easy. Unlike other over the counter tests, like a pregnancy test, which gives a clear positive or negative result, genetic tests are about probabilities. Even a person who tests positive for a certain mutation may still not get sick depending on other non-genetic factors. People have a hard time understanding the results of genetic tests and for that reason there have been many calls to require the guidance of a medical professional for the delivery of the results.

But I believe focusing on the interpretation of the results is only half the issue. It is important to have professional guidance also at the outset to determine what tests to undergo. A medical professional should guide individuals and tailor the panel of tests to the individual who desires to test. Why is that? Well, first of all, some people, if they get a chance to give it some thought, may not want to know all their genetic information. For example, a person may prefer not to know that he is likely to get Alzheimer’s at a young age. Secondly, not all genetic information is made equal. Some genetic tests do not convey that much useful information. For example, a positive result in some tests may only demonstrate a slightly higher likelihood of getting the disease than the probability in the general population. Eliminating such tests at the outset will facilitate the interpretation of the results. It would be possible to focus on the truly important positive results at the end of the process.

To achieve all this it is important for the law to require the guidance of a medical professional who is not a representative of the genetic testing company. A medical professional working for the genetic testing company may have good knowledge of the tests, but could have an interest in having the consumer purchase as many tests as possible. This could place him in a conflict of interest with the consumer who could be best off by purchasing a more limited panel of tests tailored specifically for him.

Cross-Posted at PrawfsBlawg

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