By Dr Ananya Mandal, MD
According to an advisory panel to the U.S. Food and Drug Administration, genetic tests sold directly to consumers that might help to predict health risks may need to be supplied through doctors. An official, Alberto Gutierrez, director of the FDA office that regulates diagnostic screening tools reported that the Molecular and Clinical Genetics Advisory Panel concluded two days of hearings on the increasingly popular tests and had come to this resolution.
Gutierrez added, “We’re probably not going to be able to take one approach to all the types of tests that the companies want to offer… It depends on the disease and the type of test.” The FDA may require that some genetic tests be ordered by doctors, and some test results may have to be sent to doctors instead of patients, he said. Other tests “may not require a doctor at all,” he said. In the hearing the panel only those genetic tests sold directly to consumers without the involvement of medical professionals. The kits enable people to have their genetic material analyzed to identify variations that might be related to inherited disorders, such as cystic fibrosis, breast cancer and even Alzheimer’s disease.
These tests have come up as a result of the U.S. Human Genome Project, begun in 1990, which boosted understanding of human health, disease and genetics, the FDA explained in a background summary. Because the field is so new, little is known about the accuracy of home genetic tests or the implications of test results, particularly if a health-care professional is not involved to help consumers interpret the results. Pathway Genomics had announced last year that it would sell tests costing from $400 to $2,000 at Walgreens stores, which are ubiquitous in the United States. Walgreens reversed its decision, however, after the FDA raised questions about the supplier.
The FDA urges test manufacturers for input in a variety of areas, including the reliability of the tests, the possibilities for misuse, the likelihood and consequences of misunderstood results, and how a lack of counseling might affect people who receive disturbing results. Manufacturers have defended their approach to the tests but test accuracy is a key concern of skeptical medical professionals. A recent undercover study of 15 direct-to-consumer genetic tests by the U.S. Government Accountability Office found “egregious examples of deceptive marketing, in addition to poor or non-existent advice from supposed consultation experts,” according to a report published in The Lancet. For the GAO investigation, investigators purchased 10 tests each from four different direct-to-consumer genetic testing companies - 23andMe, deCode Genetics, Pathway Genomics, and Navigenics - and the interpretation of the results differed according to which company analyzed the results.
Dr. Bruce R. Korf, president of the American College of Medical Genetics said whether the test results are clinically valid or useful is also a concern and inaccurate results could create a sense of “false reassurance.” Korf, who is also chairman of genetics at the University of Alabama at Birmingham added, “The [test] may not give you the whole story and may not even be true for [that patient].” Dr. Eric Topol, director of the Scripps Translational Science Institute in La Jolla, Calif said the test results might be emotionally devastating. He said, “There have been proclamations that this would induce a tremendous amount of fear and trauma for people and speculation as to whether it would help at all.” However in his study published in January in the New England Journal of Medicine he noted that consumers don’t suffer great anxiety in the face of negative results, nor do they change their lifestyle habits in response to test results.
Panelist Dr. Valerie Ng, a pathologist at the University of San Francisco in Oakland, Calif. Said, “I want any test that has a high predictor that a person will get a disease, I want that filtered through a physician.” Panel chairman John Waterson, MD, PhD, a geneticist at Children's Hospital and Research Center in Oakland, Calif. Added, “Most of the committee agrees that physician involvement is necessary.”
Jeremy Gruber, president of the Council for Responsible Genetics, a nonprofit organization founded to stimulate public debate on the social and ethical impacts of genetic technologies, said he thinks the FDA should better regulate direct to consumer (DTC) genetic testing companies in order to mitigate the harm that could be caused by the tests. “We believe that everyone should have access to their genome and allowed to sequence it if they choose…We must acknowledge that DTC testing can cause as much harm as good,” he said.
“The bottom line from actual studies, is that when people attempt to learn something, they are not upset by what they learn, even when the news is bad,” said Mary Pendergast, a lawyer, industry consultant, and former FDA deputy commissioner. “Everyone's lives have trials and tribulations. We can handle it.”