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.
What Do Consumers Think about Home Genetic Tests?
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.