DTC consumers express concern on personal genetic risk test

One-half of people using direct-to-consumer (DTC) personal genetic risk tests express concerns about testing—yet more than 80 percent want to know their risk even for non-preventable genetic diseases, according to a study in the September Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.

Some groups of consumers, such as women and younger people, are more likely to have concerns. "Given that concerns vary among different subgroups of consumers, if the clinical validity and utility of these tests are demonstrated, tailored genetic education and counseling services may be of benefit," write Cinnamon S. Bloss, Ph.D., and colleagues of The Scripps Research Institute, La Jolla, Calif.

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The study was designed to evaluate public perceptions of DTC personalized genomic risk assessments. An increasing number of such tests are marketed to the public, without a prescription, often on the Internet, and elsewhere. The consumer provides a saliva sample, which is mailed in and tested for disease and trait-related genetic variants. Based on the results, consumers receive a profile providing information on their alleged genetic risk of selected diseases.

For the study, employees of two companies—a health care company and a computer company—were offered the opportunity to purchase DTC personalized genomic risk assessments at a discounted price. Those who bought and used the test completed a survey regarding their perceptions and concerns about testing. Responses from 3,640 participants were analyzed.

Even though all chose to purchase and use the test, one-half of participants reported concerns about DTC personalized genomic risk assessments. Privacy issues were the most common concerns. Others included concerns about the quality and reliability of the data, feelings about the test results, and concerns about learning about disease risk.

Women were more likely to express concerns than men, while employees of the health care company had more concerns than computer company employees. Younger, better-educated participants were more likely to express concerns, as were those with higher scores on an anxiety questionnaire. White employees were more likely to purchase the tests than nonwhite employees.

When asked how they would feel about learning their genetic risk for a non-preventable disease, more than 80 percent of participants said they would want to know their risk. None said they would definitely not want to know their risk—although some said they would "possibly" want to know their risk, depending on the circumstances.

Direct-to-consumer personalized genomic risk assessments take advantage of recent studies identifying common gene variants affecting disease risk and the availability of "high-throughput" technologies allowing rapid testing of a large number of genes. The tests are marketed to consumers as a way of learning about their "personal risk profile"—ostensibly so that they can make positive health changes to reduce their risk. The new study is the first in a series of studies planned by The Scripps Research Institute to evaluate the public's uptake and response to DTC genetic tests.

Based on the high rate of concerns, routine genetic counseling should at least be offered to all consumers of DTC genetic testing products, Dr. Bloss and colleagues believe. Information on factors affecting willingness to be tested and the presence of concerns about testing—including age, race, sex, and psychological factors—may help in targeting genetic education and counseling services to the patients most likely to benefit.

The authors' conclusions are consistent with an official ACMG statement on DTC consumer testing, which highlights the potential for harms related to inappropriate test utilization, misinterpretation, tests that are inaccurate or not clinically valid, and other problems. "Genetic testing is a technical, highly complex specialty," says Michael Watson, Ph.D., FACMG, Executive Director of the ACMG. "A genetics expert such as a medical geneticist or certified genetic counselor can help people to sort through all of the issues including family history factors and what test results may mean."

The concerns of professional organizations and consumers are especially relevant given Congressional hearings on the matter. A recent undercover investigation by the Government Accountability Office highlighted stark inconsistencies among providers of genetic risk data.

Source : The American College of Medical Genetics