ACMG is Not On Board With 23andMe’s FDA Approval
Last week saw 10 Direct to Consumer (DTC) tests from 23andMe earning approval from the US Food and Drug Administration (FDA), along with an indication that similar tests are likely to be approved in future. In response to this announcement, the American College of Medical Genetics and Genomics (ACMG) have released a statement that cautions potential customers against the limits of DTC testing.
In 2015, ACMG produced a position statement on DTC genomic tests that emphasised the importance of marrying test results with knowledgeable providers with experience to interpret them correctly. They renewed this sentiment on Friday with a statement responding to the FDA’s announcement. In particular, they wanted to highlight the need for incorporating an individual’s personal situation into their test data.
“ACMG believes that that all genetic testing gains its value when put into the context of a person’s medical and family history,” the statement reads.
The DTC tests now being offered by 23andMe do not present the results in a way that is specific to the individual taking the test and as a result, ACMG argue, they can only offer qualitative, general reports, instead of a quantitative measure of risk. To deride personalised meaning from these results, consumers will need to follow up with healthcare professionals who have access to their personal medical history.
“It is important that consumers considering accessing DTC genetic testing be aware of the type of result that they will get and the types of things that they will have to anticipate in the follow-up of the results,” ACMG said. “In order for risks to be individualized, it will be necessary to repeat the testing and to then integrate that result with other information about the individual to whom the result applies.”
Something else that was highlighted in the statement is that genotyping, the method used by 23andMe’s DTC tests, can be susceptible to false negatives (where the test does not identify an individual at high risk). The reduced sensitivity of the tests, which is lower than the standard detection of medical alternatives, may, in some cases, mislead customers who are in need of medical intervention or assistance.
“It is also important that consumers be aware of the often very limited data available about the risk to individuals randomly identified without consideration of medical or family history which would allow the result to be individualized and placed in the proper context of their lives and their health,” ACMG said.
ACMG have also expressed concern over the assertion by the FDA that similar tests from both 23andMe and other companies will likely receive similar approval. While other tests haven’t been specifically mentioned or highlighted, ACMG believe it is likely that the market will see an increase in DTC genomic tests in the near future. However, there has been no indication yet as to what input health insurance companies will be able to provide customers who wish to use these tests. The tests themselves can be paid for by the customer, but the cost of the follow-up appointments with healthcare professionals to discuss their results is still unclear. Healthcare providers may not consider the test results significant enough to cover the cost of the appointments, thereby putting the costs back onto the consumer.
The ACMG statement has outlined several changes that they believe companies hoping to provide these tests should make to ensure customer safety and satisfaction. For consumers, they suggest that providers should offer better privacy protection of genetic information and provide customers access to clinical decision support tools with properly trained healthcare professionals. This could not only provide clearer result interpretation but also reassure consumers when potentially concerning results are produced. ACMG also advise providers to organise their data collection to enable information sharing with external organisations.
“Improved interpretation of such tests will be served by broad sharing of data, not by establishing proprietary databases that are not accessible by all,” the statement reads.
Despite the concerns, however, it is important to remember that this technology is still very novel and improvements are continually being made to improve the accuracy and accessibility of these tests. The FDA’s approval of the initial 10 tests from 23andMe was an important step in embracing DTC genomic products and an indication that the technology can be used to help people who want to learn more about their own genomes. 23andMe have already had success with similar types of tests in understanding abnormal drug responses, furthering genomic research, and even exploring consumers’ ancestry.
“This is an important moment for people who want to know their genetic health risks and be more proactive about their health,” said Anne Wojcicki, CEO of 23andMe, when the approval was first announced. “The FDA has embraced innovation and has empowered individuals by authorizing direct access to this information. It is a significant step forward for 23andMe and for the adoption of personal genetics.”