23andMe has announced a relaunch of its direct-to-consumer genetic test kit which will report whether individuals carry genes associated with 36 disorders as well as non-medical information. The FDA ordered 23andMe to stop selling its Personal Genome Service in 2013 as the agency had not approved the tests, but the company says its new service now meets regulatory standards.
Dr. Cecile Janssens, Professor, Deparment of Epidemiology, Emory University (webpage):
Expertise: Translation of genomics to applications in clinical and public health practice including assessment of the clinical validity and utility of predictive testing.
“When I learned about the news, my initial response was to see what new test 23andMe were offering. When the FDA approved their DNA test earlier this year, I commented* that this was not the same test it had halted earlier. And this new test is also not the same one as 23andMe were offering before the FDA halted it (a decision I defended**).
“The new test offers carrier status, ancestry information, and predisposition tests to wellness and trait characteristics. The company has substantially improved the information that they provide to customers. For the predisposition tests, they accurately say that DNA is only one of the factors that matter, and that the information should mainly be considered to learn ‘how DNA relates to these traits’.
“The carrier status reports include 36 diseases, for which they list how many variants they are testing for each and for which populations the test are most relevant. The fineprint below the table says that ‘[their] tests can be used to determine carrier status in adults, but cannot determine if you have two copies of the genetic variants.’ This is interesting because all the diseases are recessive, which means that a person needs to have two copies of the gene to develop the disease. Also, all the diseases are either present at birth or develop during childhood and adolescence: adults know already that they will not carry two copies because they themselves don’t have the disease.
“The company is not testing the diseases that raised most concerns in the past. It does not test predisposition to common diseases such as heart attack, asthma and hip fractures, for which lifestyle factors are often more important; it does not test high risk variants such as BRCA1 and BRCA2 for breast and ovarian cancer and APOE for Alzheimer; and it does not include pharmacogenetic testing. It will be most interesting to follow what FDA is going to decide for these tests.”
Dr. Dietrich Stephan, Chairman and Professor of the Department of Human Genetics, University of Pittsburgh Medical Center (webpage):
Expertise: Population genetics and methods to accelerate the translation of new discoveries into clinical practice
“The new medical genetic test that 23andMe are launching includes carrier tests, and this is a very specific class of genetic information that tells a person if they are at risk of disease or carry a gene that might predispose their children to a severe genetic disease.
“The FDA has recently ruled that genetic testing companies can deliver carrier tests over the counter to consumers. 23andMe are focusing on this class of genetic tests because of the green light from the FDA. They no longer are able to communicate medical risk information on common chronic diseases directly to consumers, which is an important distinction with respect to their previous offering.
“The term carrier test breaks into 2 categories. First, very rare single gene diseases where having a broken copy of a gene it doesn’t affect you, but your kids are at risk of a severe genetic disease if they inherit the gene along with a second copy from your spouse. The other category is for cancer genes like BRCA1/2 (not included in the new 23andMe test) where if you carry a broken gene you are at risk yourself for developing cancer. In both scenarios you need genetic counselling support because this information can be very complex and scary to deal with.
“While FDA has approved carrier tests there still isn’t infrastructure to support the consumption of that information by consumers, and that’s where I have concerns.
“The other main point for consumers to be aware of is the issue of awareness and informed consent. Their genetic data and their self-reported survey data are being pushed to internal pharmaceutical development, and may be shared with external pharmaceutical partners outside of 23andMe. It’s legal and above board, but important for consumers to be aware of.”
Dr. Brian Zikmund-Fisher, Associate Professor, Health Behavior and Health Education, University of Michigan (webpage):
Expertise: Decision psychology and behavioral economics to study factors that affect individual decision making about a variety of health and medical issues.
“From a the standpoint of medical risk communication, 23andMe’s new product is very different than its old one. The new product focuses on carrier mutations, or specific gene changes, known to cause health issues when children receive the mutations from both parents. Issues like behavior and environment don’t generally matter for these diseases. If environment and behavior do matter, they matter in determining how and when a condition shows itself, not whether it will happen. Tests for carrier mutations have existed for years and have been available through doctors’ offices, especially for future parents who were concerned about the possibility of hereditary disease.
“One concern about informing people that they have these types of carrier mutations is that people may not know how to process the information without help. Genetic counseling services focus on preparing patients for the different types of results they might get before patients choose to get tested, not just on how to explain the testing results. In the 23andMe case, there is a risk that someone will decide to get tested because they are interested in one disease but end up getting potentially disturbing information about another one, one that they perhaps were less prepared to consider. While 23andMe discloses what tests are included in the product, the larger the test panel becomes, the harder it will be for patients to really consider whether they want to know each and every piece of information they might get.
“It is worth noting that the new product is very different than 23andMe’s previous Personal Genome Service, which attempted to provide consumers with personalized risk estimates for conditions that have genetic components. Part of the problem with that effort was that the 23andMe report could not possibly reflect the behavioral and environmental factors that influence many diseases like diabetes. Such risk estimates are also difficult for people to interpret without medical help. For example, it’s not obvious what a person should think or feel about having, say, a 20% risk of a disease. The current 23andMe product avoids these issues, but as a result it does not address the risk (genetic and otherwise) of most of the most common diseases Americans face.”
Declared interests (see GENeS register of interests policy):
Dr. Dietrich Stephan: “I was the founder of Navigenix, the medical version of the direct-to-consumer test that launched at the same time as 23andMe but have no current interests in direct-to-consumer genetic testing companies or carrier testing companies. I do have other interests in specialty diagnostics such as tumor testing and drug matching but they are non-conflicting.”
Dr. Brian Zikmund-Fisher: “I have no financial relationships with any for-profit companies that provide health services. Among my federal research funding, I receive funding as part of a National Human Genome Research Institute project to explore the communication and ethical issues in cancer tumor sequencing as part of precision cancer medicine.”
No further interests declared.