General Satisfaction With Direct-to-Consumer Genetic Testing Kits

Jacquelyn K. Beals, PhD

November 17, 2010

November 17, 2010 (Washington, DC) — A recent survey examined the reasons that customers use direct-to-consumer (DTC) genetic testing, their experiences with these tests, and any resultant changes in attitudes or behaviors. Overall survey results, presented here at the American Society of Human Genetics (ASHG) 60th Annual Meeting by David J. Kaufman, PhD, director of research and statistics at Johns Hopkins University Genetics & Public Policy Center, Washington, DC, indicated customer satisfaction, with only a low percentage of respondents misinterpreting risk results.

"Direct-to-consumer testing . . . involves genetic testing directed to consumers, people who are interested in knowing things about their ancestry or about genetic variants they have that may be associated with disease — in some cases, rather serious diseases," said Lynn B. Jorde, PhD, from the Department of Human Genetics, University of Utah, Salt Lake City, and president-elect of the ASHG, at the press briefing announcing the survey results.

"Typically, the process involves sending a DNA sample off to a company in the form of saliva or a blood swab, the company engages a laboratory to do genetic testing, and the testing results are then returned directly to the consumer," explained Dr. Jorde. The cost of DTC testing ranges from a few hundred dollars to a thousand dollars or so. Dr. Jorde mentioned that Walgreen's announced an off-the-shelf DTC genetic testing kit last year, selling for $249. However, after much controversy, the kit was withdrawn.

ASHG issued a position paper several years ago that outlined recommendations for DTC testing. "A recommendation was made for further evaluation of [DTC] testing companies by organizations such as the FDA [US Food and Drug Administration] and the Federal Trade Commission [FTC]," Dr. Jorde said. "The FDA is now considering regulation of direct-to-consumer genetic testing, as a form of medical testing."

ASHG also recommended that studies be conducted on how consumers are affected by the results of DTC testing. The survey by Dr. Kaufman's team is just such a study.

"On the one hand, the benefits and the risks of these tests haven't really been well-established yet," said Dr. Kaufman in the press briefing. The genetic data can be used to improve consumers' health and behavior, prevent disease, and perhaps help them choose treatments, but "the concerns are about their limitations, their potential harms."

Participants in the online survey were a random sampling of customers in the United States who had received results of DTC testing from 23andMe, deCODEme, or Navigenics between June 2009 and March 2010. Of 3167 customers contacted, 1163 responded, and 1048 (33%) participated in the survey, which was funded by the National Human Genetics Research Institute.

"We measured people's attitudes at one point in time, sometime between 2 and 8 months after they got their results. We wanted to give people a little bit of time to digest [the results] and react to [them]," said Dr. Kaufman. "But we only talked to each person once, so we can't track people's changes in behavior over time."

Demographic data showed that participants had above-average education (24% had a bachelor's degree and 54% had postgraduate education). Two thirds earned more than $85,000 per year; 87% were white non-Hispanics. In terms of their top reasons for being tested, 94% of participants reported that satisfying curiosity was very or somewhat important, and 91% wanted to learn about their disease risks. Of those whose tests provided ancestry as well as health data, 90% listed "learning about ancestry" among their top 3 reasons.

Participants also considered the testing important to improve their health (77%), to find out about specific health conditions (42%), or because a first-degree relative had a condition that the kit assessed (approximately one third of respondents). "The disease categories that were of most interest to people were cancer, cardiovascular disease, and neurological disorders," added Dr. Kaufman.

When asked about sharing the results with their healthcare provider, 29% had already shared the results or had follow-up testing and 18% were planning to do that. Learning their results had several positive effects on participants' health practices — 34% reported increased attention to their diet, 15% changed their use of supplements or medications, and 14% increased their exercise regimen.

Concerning negative results, 38% of participants thought the conclusions of the testing were too vague, and 88% said their risk results were easy to understand. However, when people were asked to interpret 2 sample genetic test results, presented using the graphics and tests that each of the 3 companies would use for their customers, between 4% and 7% had difficulty interpreting the risk results, as demonstrated by an incorrect or "don't know" response on the survey.

Also, "people were twice as likely to misinterpret a finding of low-risk as a finding of high-risk," said Dr. Kaufman.

Asked by Medscape Medical News why lower risk was harder to interpret, Dr. Kaufman explained that "people are much more interested . . . in looking for high-risk results. It's the number 2 reason that they are doing this in the first place. Interest in getting lower risk was considerably less important to people. . . . Maybe people are just more used to hearing that something is twice as big, or 3 times as big, but aren't as good at saying it's half as big."

Two thirds of participants thought genetic testing should be available to consumers without government supervision, but a majority felt that companies' claims of scientific accuracy should be monitored by a nongovernment agency like Consumer Reports (84%) or the FTC (73%).

Dr. Kaufman summarized: "Customers were generally satisfied with the testing services, and more than half said that they learned something that they could use to improve their health." Nevertheless, there is room to improve the clarity of information provided to customers in their personal test result reports, and to improve the way information is being delivered.

Dr. Kaufman and Dr. Jorde have disclosed no relevant financial relationships.

American Society of Human Genetics (ASHG) 60th Annual Meeting: Abstract 390. Presented November 5, 2010.