Effect of direct-to-consumer genomewide profiling

January 01, 0001

Effect of direct-to-consumer genomewide profiling

The use of direct-to-consumer genomewide profiling to assess disease risk is controversial, and little is known about the effect of this technology on consumers. These US authors examined the psychological, behavioral, and clinical effects of risk scanning with the Navigenics Health Compass, a commercially available test of uncertain clinical validity and utility. They recruited subjects from health and technology companies who elected to purchase the Health Compass at a discounted rate. Subjects reported any changes in symptoms of anxiety, intake of dietary fat, and exercise behavior at a mean of 5.6 months after testing, as compared with baseline, along with any test-related distress and the use of health-screening tests.

They found: "From a cohort of 3639 enrolled subjects, 2037 completed follow-up. Primary analyses showed no significant differences between baseline and follow-up in anxiety symptoms, dietary fat intake, or exercise behavior. Secondary analyses revealed that test-related distress was positively correlated with the average estimated lifetime risk among all the assessed conditions. However, 90.3% of subjects who completed follow-up had scores indicating no test-related distress. There was no significant increase in the rate of use of screening tests associated with genomewide profiling, most of which are not considered appropriate for screening asymptomatic persons in any case."

The authors concluded: "In a selected sample of subjects who completed follow-up after undergoing consumer genomewide testing, such testing did not result in any measurable short-term changes in psychological health, diet or exercise behavior, or use of screening tests. Potential effects of this type of genetic testing on the population at large are not known."

The only harm of testing per this study would be the cost of testing per se.

For the full abstract, click here.

N Engl J Med 364:524-534, 10 February 2011
© 2011 to the Massachusetts Medical Society
Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk. Cinnamon S. Bloss, Nicholas J. Schork, and Eric J. Topol. Correspondence to Dr. Topol: [email protected]

Category: A. General/Unspecified, P. Psychological. Keywords: genomewide profiling, genetic testing, diet, exercise, psychological health, cohort study, journal watch.
Synopsis edited by Dr Linda French, Toledo, Ohio. Posted on Global Family Doctor 22 February 2011

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