MAYWOOD, Il. – Several companies sell genetic testing directly to consumers, but little research has been done on how consumers experience such tests. The tests have raised questions about the validity and accuracy of the information provided to consumers – especially without the involvement of a qualified health care professional.
Now, a study lead by a Loyola University Chicago Stritch School of Medicine researcher is providing insight into how a diverse sample of primary care patients experience genetic testing.
Lead researcher Katherine Wasson, PhD, MPH, and colleagues conducted in-depth interviews with 20 patients recruited from primary care clinics. Among the findings, published online ahead of print in the Journal of Community Genetics :
Patients were interviewed individually four times: during an initial session in which a saliva sample was given; 4 to 6 weeks later, when they received results; 3 months after receiving results; and 12 months after receiving results. All interviews were recorded and transcribed verbatim.
The patients ranged in age from 29 to 63; the average age was 49.5. Sixty percent were female, 50 percent were white and 50 percent were African American. Thirty percent were high school graduates, 40 percent had some college, 25 percent were college graduates and 5 percent were postgraduates.
Researchers concluded: "This longitudinal, qualitative study adds more in-depth information to the emerging data on participants' decision-making process about, experience of and reactions to direct-to-consumer testing over time. . . It is possible that our findings could be relevant to more general consumers with similar demographics, though further investigation is needed."
Companies such as 23andMe and Navigenics test consumers' genomes for single-gene disorders such as cystic fibrosis; for risks of developing complex disorders involving multiple genes, such as cancer, heart disease and diabetes; for sensitivities to drugs such as Coumadin; and for traits such as hair color, eye color and baldness. Costs range from roughly $100 to $1,500. Consumers can order these tests directly and receive results without the involvement of a qualified health-care professional, such as a geneticist or genetic counselor.
Wasson, first author of the study, is an assistant professor in the Neiswanger Institute for Bioethics in Loyola's Stritch School of Medicine. Other authors Tonya Nashay Sanders, MA, PhD, an assistant professor at Morgan State University in Baltimore; Nancy S. Hogan, PhD, RN, a distinguished professor in Loyola's Niehoff School of Nursing; Sara Cherny, MS, CGC, of Cadence Health and Kathy J. Helzisouer, MD, MHS, of Mercy Medical Center in Baltimore.
Journal of Community Genetics