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To Know or Not?

Individuals harboring ostensibly pathogenic variants in two genes linked to cardiac arrhythmias don't always show signs of the condition, researchers led by Vanderbilt University Medical Center's Dan Roden and Sara Van Driest report in the Journal of the American Medical Association this week.

As GenomeWeb has noted, this study highlights some of the issues with analyzing and then reporting back rare disease variants in a healthy population. The genes the researchers focused on, GenomeWeb added, are included on the list of incidental genetic findings that the American College of Medical Genetics and Genomics recommends be returned to patients.

At Stat News, Ellen Wright Clayton, a professor of pediatrics and law at Vanderbilt University, calls the results "stunning." These genes were "poster children for returning secondary findings," but their limited association with disease undercuts the importance of returning such incidental findings, she adds.

"[These results] should call into question the wisdom of routinely telling patients about secondary findings of genetic analyses," Wright Clayton says.

But, Michael Murray, the director of Clinical Genomics at Geisinger Health System counters that these variants indicate a risk of disease, not the presence of disease itself. The results aren't all that surprising, he notes, as those genes have variable penetrance. That, he adds, has to be well communicated to patients.

"The communication of an incidental finding should be viewed as the start of a process that includes clinical evaluation and planning for long-term management," Murray says.