What is the effect of direct-to-consumer (DTC) genomic profiling on patients? Despite the significant attention DTC genomics companies such as 23andME, deCODEme, and Navigenics have received, surprisingly little is known about the effect of genomics profiling results on patients who pursue testing. A recently published study by Cinnamon S. Bloss, Ph.D. of Scripps Genomic Medicine and Scripps Translational Science Institute, La Jolla, Calif., and her colleagues, reported initial data on the psychological, behavioral, and clinical effects of DTC genomic profiling on roughly 2,000 consumers (N. Engl. J. Med. 2011;364:524-34).

The DTC genomic companies claim their testing can help consumers understand their risks for a wide range of health conditions. The conditions encompass everything from cancer to atrial fibrillation and from nicotine dependence to bitter taste perception. A consumer receives a customized profile that benchmarks his or her risk against the “average risk.” Concerns have been raised as to how consumers of DTC genomic testing are using and reacting to this information, particularly since the clinical validity and utility of using the technology as a health screening test is unproven.

This concern was significant enough to derail plans for Walgreen Co. to carry the Pathway Genomics’ DTC profiling kit following an inquiry by the Food and Drug Administration for information about the Pathway product. The FDA, long on the sidelines, has taken notice of the DTC genomics industry. However, testing is still directly available to consumers, which brings us back to the original question, how are consumers affected by this testing?

Dr. Bloss and her colleagues examined how results from genomic profiling tests influenced lifestyle changes, medical care utilization, and the degree of test-related distress three months after testing on 2,037 individuals who completed the follow-up. The investigators measured changes in anxiety level, dietary fat intake, exercise behavior, and use of health-screening tests. All the participants in the study used the Navigenics Health Compass genomics test. The study is on-going and long-term outcomes are forthcoming. However, the initial 3-month post-test findings are interesting.

A major argument of supporters of DTC genomic profiling is that by providing this information, consumers will adopt healthier lifestyle habits and improve compliance with established health screening programs. Three months after testing, however, the investigators found no significant association between composite genomic profiling risk scores and changes dietary fat intake, exercise behavior, or total number of screening tests performed. Patients did not act on their results.

There was, however, a significant association between risk scores and the intentions to change behavior and complete more screening tests.

The 3-month period may have been too short a time frame to measure actionable follow-up. It will be interesting to see further data at 12-months follow-up.

Fortunately, at this juncture, it does not appear that DTC genomic profiling led to a substantial, and likely inappropriate, use of medical testing, which is a concern from a cost and patient safety perspective.

The psychological impact of genomic profiling test results is important particularly given the “direct-to-consumer” nature of the business. Consumers receive, interpret, and make decisions based on these results outside of the traditional medical system. At least at 3-months’ follow-up, there was not a significant association between risk scores and changes in anxiety levels. The authors noted that those who might have been harmed psychologically by testing may not have participated in the study or may have dropped out (44% of subjects failed to complete the study). These are valid concerns in interpreting the potential harm of DTC genomic profiling risk assessment and need to be further investigated.

What is potentially more concerning is that only 10% of participants reported discussing their results with a Navigenics board-certified genetic counselor even though this counseling was provided free of charge as part of the study. In addition, only 26% reported sharing their results with their physician. This limited sharing of information might be a result of the significantly higher-than-average educational level of this cohort, and likely higher scientific knowledge as compared with the general population. Interestingly, sharing of results with a physician was associated with a lower fat intake and increased exercise activity. Perhaps this served as an additional educational opportunity to review healthy lifestyle habits.

These initial results support the notion that direct-to-consumer risk testing does not lead to changes in health-related behavior or test- related distress. For now, this is reassuring, given the lack of data on the clinical utility of such testing. It will be important to readdress this issue in long-term follow-up and as the DTC genomics industry continues to evolve. Physicians need to be proactive in inquiring whether their patients are using these products, because this study shows that patients are not discussing results with their health care providers.

Dr. Hulick reported having no relevant financial conflicts of interest.

The Influence of DTC Genomic Tests