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Experts Discuss Consumer Views of DTC Genetic Testing at ASHG

By Andrea Anderson

WASHINGTON (GenomeWeb News) – Researchers are sifting through survey and other data that may eventually help discern consumers' attitudes about direct-to-consumer genetic tests and inform future oversight of such tests, experts explained at the American Society of Human Genetics meeting here today.

The ASHG's existing recommendations for DTC genetic testing call for transparency and evaluation of DTC tests by health and/or consumer organizations such as the US Food and Drug Administration or the Federal Trade Commission, along with education about the tests for consumers and healthcare providers and studies of consumers' views on and use of such tests, ASHG President-elect Lynn Jorde, chair of human genetics at the University of Utah, told reporters during a press briefing.

Jorde moderated a panel of experts who weighed in on DTC tests and outlined findings from their own studies of consumer attitudes toward DTC tests.

For instance, David Kaufman, director of research and statistics at Johns Hopkins University's Genetics and Public Policy Center, described results from a survey of more than 1,000 individuals that was designed to get at individuals' motivation for using DTC genetic testing services offered by 23andMe, Decode Genetics, and Navigenics — and their experiences and level of satisfaction with these tests.

Kaufman and his colleagues surveyed 1,048 DTC genetic test customers who had been tested by 23andMe, Decode Genetics, or Navigenics and received their test results between June 2009 and the following March.

In general, they found that the earliest DTC genetic test adopters tended to be well educated and had significantly higher incomes than the average American. Most participants said they were motivated by factors such as general curiosity and an interest in assessing their ancestry and/or disease risk, Kaufman noted, though many also cited an interest in improving their health as a motivator for testing.

Although some 70 percent of consumers surveyed supported oversight by a consumer agency that would hold testing companies to their scientific claims, Kaufman and his team found that roughly two-thirds of those surveyed believe DTC tests should be available to the public without government oversight.

The researchers also gained insights into everything from participants' understanding of test results to their overall satisfaction with the tests.

Nevertheless, Kaufman cautioned, though the survey provided information on how DTC test results are interpreted by customers, it did not address the scientific rigor of the tests themselves or the clinical validity or utility of the test results.

Meanwhile, Barbara Bernhardt, co-director of the University of Pennsylvania's Center for the Integration of Genetic Health Care Technologies, and her co-workers surveyed 60 individuals who had been tested for risk variants associated with eight conditions through the Coriell Personalized Medicine Collaborative.

Again, the team found that participants tended to be well educated and motivated by factors such as curiosity and interest in improving their health.

While most of the individuals surveyed understood their general results — often interpreting them within the context of their own family history — they did not necessarily have a deep understanding of the relative risk information provided to them, Bernhardt explained. Though some were told they were at a heightened risk certain diseases, the researchers found that none of the participants reported being very concerned about this increased risk.

Even so, Bernhardt said, nearly a third had at least somewhat changed their behavior or lifestyle based on their test results. And half had discussed their test results with their doctor.

Finally, Andrew Faucett, director of genomics and public health at Emory University School of Medicine, outlined some questions that consumers and clinicians should keep in mind when selecting, evaluating, and interpreting DTC genetic tests and results.

For example, Faucett said, consumers need to consider what they hope to learn by taking the test. For clinicians, meanwhile, issues such as treatment implications of genetic findings are important, Faucett noted, as are an understanding the population(s) in which a particular test has been evaluated.

Faucett also drew a distinction between DTC genetic tests that are regularly used in the clinic and those that aren't, explaining that while testing labs in general are doing a good job with test analyses, much less is known about the clinical validity and utility of some tests.

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