Utility of Whole-Genome Sequencing Questioned

Most individuals will test negative; risk would still be 50 to 80 percent of that in general population

MONDAY, April 2 (HealthDay News) -- Whole-genome sequencing is unlikely to provide much useful information on an individual's risk of developing common diseases, according to a study published online April 2 in Science Translational Medicine.

Using data on disease incidence from thousands of monozygotic twins, who have identical genomes but may not develop the same diseases, Nicholas J. Roberts, D.V.M., from the Johns Hopkins Kimmel Cancer Center in Baltimore, and colleagues developed mathematical models to analyze the ability of whole-genome sequencing to predict clinically significant risk for 24 relatively common diseases.

The researchers found that the majority of individuals would test negative for 23 of the diseases. These negative tests would have little predictive value, as the total risk for 19 of the diseases would be 50 to 80 percent of that of the general population. In the best case scenario, more than 90 percent of individuals could learn of clinically significant risk for at least one disease.

"Our results suggest that genetic testing, at its best, will not be the dominant determinant of patient care and will not be a substitute for preventative medicine strategies incorporating routine checkups and risk management based on the history, physical status, and life style of the patient," Roberts and colleagues conclude.

Several authors are cofounders of Inostics and Personal Genome Diagnostics and own stock in these companies. One author is on the scientific advisory board of Counsyl.

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