An advisory panel to the US Food and Drug Administration said genetic tests should only be marketed direct to consumers under the supervision of doctors, because without this the results can be open to interpretation: for instance a negative result does not necessarily mean that all the markers of a disease have been checked, although this is what the consumer might conclude.
The 21-member Molecular and Clinical Genetics Advisory Committee comprising mainly doctors and academics, is holding a hearing on 8th and 9th March in Gaithersburg, Maryland, to discuss and make recommendations on scientific issues concerning direct to consumer genetic tests that make medical claims.
They did not vote on specific questions on Tuesday, but according to a report in the Los Angeles Times, members generally agreed that doctors should supervise ordering and interpreting the tests.
For several years, companies have been marketing genetic tests that claim to predict an individual’s risk of developing diseases.
According to the American Society of Human Genetics (ASHG), these tests currently cover over 150 different conditions, and although doctors have offered tests for many of these diseases, companies are establishing themselves as direct to consumer providers, with some even selling tests that have not been adopted for routine medical practice.
The FDA panel meeting is addressing the following issues:
- The risks and benefits of genetic tests being available direct to consumers without a prescription, including for instance testing for hereditary disease, development of disease, or how a person might respond to a particular drug.
- The risk of consumers misunderstanding or receiving incorrect or misleading results from tests that might otherwise be beneficial.
- The scientific evidence behind claims made in consumer marketing of genetic tests, and whether this should be different to that required for similar claims in prescription-use tests.
One of the panelists, Dr Joann Boughman, Executive Vice President of the ASHG, told the press:
“I would suggest that we are not ready yet to put this completely in the consumer’s hands.”
“Each test is complex, and when you have each provider doing slightly different tests, it complicates it even more,” said Boughman, as reported in the Los Angeles Times.
One example that causes concern is that the consumer may take a test to find out if they are a carrier of cystic fibrosis, get a negative result, and not realize that the test did not cover all the genetic markers of the disease. Cystic fibrosis is a debilitating hereditary disease that affects the whole body and often results in early death.
Panelist Dr George Netto, Associate Professor of Pathology, Urology and Oncology at Johns Hopkins University School of Medicine, said it could be dangerous to receive false reassurance when you have no knowledge of other risk factors.
However, providers of direct to consumer tests say they are offering a service that allows consumers to take charge of their health care in a more informed way.
One company that specializes in “personal genomics”, which they describe as enabling “you to get to know your own genome and learn how you can use it to improve your health”, is deCODE Genetics, based in Reykjavik, Iceland.
Their Vice President of product development, Jeff Gulcher, who also co-founded the company in 1996, told the Los Angeles Times that:
“We’re not trying to substitute for a physician – we’re simply providing a service that doesn’t exist otherwise.”
deCODE markets a direct to consumer test called deCODEme, which was one of three products that Dr David Kaufman, Director of Research and Statistics for the Genetics and Public Policy Center at Johns Hopkins University, and colleagues, studied in an online-survey of over 1,000 customers who ordered direct to consumer genetic tests. The other two tests were 23andMe, and Navigenics.
They reported their findings at the ASHG 60th Annual Meeting in Bethesda, Maryland in October 2010. Although some of their findings might suggest that direct to consumer testing can bring benefits, for instance, over half participants said they learned information that would help them improve their health, there were also some causes for concern.
For example, 38% of participants said the information they received from the companies providing the tests was too vague. Also, when shown two examples of risks provided by the companies, between 4% and 7% of the participants misinterpreted them.
“The participants were also twice as likely to misinterpret a result showing a gene that protected a person from disease, as compared to a result showing a gene that increased disease risk,” the researchers told the meeting.
While 66% of the customers in the survey said the tests should be available without interference from the government, more than 70% said the scientific accuracy of the claims made by the companies marketing the tests should be checked by an organization like the Federal Trade Commission (FTC) or Consumer Reports.
The FDA advisory panel will vote on the issues on Wednesday.
The FDA does not have to follow the advice of its advisory committees, but it usually does.
Sources: Los Angeles Times, FDA, ASHG, deCODE.
Written by: Catharine Paddock, PhD