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Incidental Problems

Of all the potentially prickly ethical conundrums that have sprouted in the genomics field as personal genetic information begins to wend its way into patient care, of which there are several, the one most likely to prickle soonest is the question of what to do about incidental findings, Meredith Salisbury writes at Techonomy. (Ed. note: Salisbury is a former co-chief executive of GenomeWeb and editor of Genome Technology.)

Salisbury sketches out a scenario in which a clinician orders a genome sequence for a patient for a "fairly mild" medical condition: The sequencing provides an answer to that question, but it also dredges up other things from the patient's genomic muck, such as variants showing that the patient has a heightened risk of hereditary cancer

What to do? Does the patient want to know such things? Should they be able to choose what genetic risk information is returned to them?

"This question has reached full-battle proportions in the research and clinical communities," Salisbury says, with some saying that only requested results should be returned, but others arguing that if incidental findings suggest that a clinical action should be taken, even in the future, that this information should be shared with patients.

She says the American College of Medical Genetics and Genomics brought the "issue to a boiling point" earlier this year when it recommended that a collection of 57 genes should be evaluated whenever a doctor orders a genome or exome sequence for a patient.

The problem was confronted by passionate representatives from the various sides of this debate at the recent American Society of Human Genetics annual meeting in Boston, she adds.

"This ‘duty to hunt,’ as some people call it, was surprising — but what really got people’s attention was the part of the recommendation that said these findings should be shared even with patients who expressly do not want to know the results," Salisbury writes.

In fact, she notes that doctors may not be following the recommendations anyway.

"If there’s anything that was agreed on at the recent ASHG meeting, it was that there is a critical need for consensus in this new ethical quagmire: somebody needs to come up with a guideline that enough of the community supports before this rift gets even worse," she writes.