Nov. 7, 2010 For several years, companies have been selling genetic tests which claim to predict a person's risk of developing disease. These tests currently cover up to 174 different conditions. Although doctors' offices have offered genetic tests for a number of these diseases for many years, these companies have made their mark by selling genetic testing services directly to consumers (or DTC), and some companies even provide tests that have not yet been adopted for routine medical practice.
Concerns about the limitations, potential harms, and lack of clear benefits of these DTC tests abound. However, very little data has been published about who is buying these tests and why, whether the tests meet customers' expectations, whether customers understand the information that is reported in their personal genetic profile, and how they are using the resulting information.
To answer some of these important questions, a group of researchers led by David Kaufman, PhD, Director of Research and Statistics for the Genetics and Public Policy Center at Johns Hopkins University, conducted an online survey of 1,048 customers who ordered DTC genetic testing from one of three different companies -- 23andMe, deCODEme, and Navigenics -- to assess their motivations and experiences using these services. Random samples of U.S. customers who received DTC results between June 2009 and March 2010 were invited to participate in the study. Survey question topics included reasons for testing, attitudes about test results, and health behaviors. Respondents were also asked to interpret two genetic test results shown using graphics and text provided by the DTC companies.
Dr. Kaufman's team found that early adopters of personal genomic DTC tests -- who on average tended to be highly educated and have higher incomes -- indicated that they were generally satisfied with their DTC genetic testing services. The top reasons that they cited for purchasing the tests were to satisfy their curiosity (94% said this was somewhat or very important), to assess their elevated risks of genetic diseases (91%), and to learn more about their ancestry (90% among the customers of 23andMe and deCODEme, which both offer ancestry testing). One in three participants said that they were interested in pursuing testing because a first-degree relative was affected with a tested genetic health condition, and 42% said they were interested in learning their risk of one or more specific conditions.
Overall, 77% of participants pursued testing to help improve their health, 58% said they learned new information that would help improve their health, and 9% felt they could not change their health risks after receiving their test results. Three in 10 study participants indicated that they had shared their results with a doctor or had gotten a follow-up test, and another 18% said that they intended to do so at a future date. As a result of testing, 34% of the participants said they were being more careful about their diet, 15% had changed their medication or dietary supplement regimens, and 14% were exercising more. Long-term follow-up of DTC test users is needed to evaluate the impact of DTC testing on healthcare usage and health behavior change.
The researchers also asked participants questions about how they viewed and interpreted the data provided their personal genetic test reports, and they found that the consumers tended to overestimate their level of understanding of their test results. Although 88% of customers agreed that their risk report was easy to understand, 38% of the study participants indicated that the information they received from the DTC companies was too vague. Furthermore, when customers were shown two examples of risk results provided by the companies, between 4% and 7% 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 study participants answered questions about their thoughts and opinions on federal regulation and oversight of DTC genetic tests. Although 66% of the participants felt that these tests should be available without government oversight, more than 70% indicated that an organization such as the Federal Trade Commission (FTC) or Consumer Reports should monitor companies' claims for scientific accuracy.
"Our research results indicate that consumers who are at the front of the line to buy direct-to-consumer genetic testing services were motivated by curiosity about their genes, though many also hoped to find out their disease risk and improve their health with the results," said Dr. Kaufman.
"We observed that most of the DTC customers who participated in this study were generally satisfied with the personal genetic testing services that were provided, and more than half of the participants indicated that their test results helped them learn something new that could improve their health," Kaufman noted. "However, many of the study participants found the information from their genetic test reports to be vague, and one in 12 was not able to correctly interpret the sample results that we showed them, suggesting that there is room to improve the clarity of the information provided to customers in their personal genetic test result reports and the way the information is being delivered to them."
This research was presented at the American Society of Human Genetics 60th Annual Meeting, which was held November 2-6, 2010, in Washington, D.C.
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