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Guidance on Health-Related Incidental Findings from Genetic Analysis

By March 25, 2013

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As I mentioned in a recent article discussing the challenges of providing DNA sequencing for medical diagnosis, results from genetic testing are different than other simpler diagnostic tests that just look for the presence or absence of some factor.  Gene analysis can easily find incidental, but important, DNA mutations indicating health risks unrelated to the conditions prompting the test. For example, a lab may find a mutation related to some cardiovascular disorder when it is looking for genetic factors causing hearing loss. What should the lab do with the information about the cardiovascular risk factor? Report it to the doctor treating the patient's deafness, not note it at all, or handle it in some other manner?

To address this unique problem of incidental findings with genetic testing, the American College of Medical Genetics (ACMG) released recommendations last week. Specifically, the publication lists which genetic variations should, at minimum, be included in reports provided to clinicians requesting genetic sequencing analysis. It also notes that health professionals requesting these analyses should be prepared to provide pre-test and post-test counseling to patients regarding the possibility and handling of these incidental findings.

The committee selected the particular conditions to be included in genetic reports based on their opinion that these were ones, "most likely to be verifiable by other diagnostic methods and amenable to medical intervention based on current evidence...." They also noted that, it was a "minimum list that is a starting point for the selection and reporting of incidental findings, fully acknowledging that as additional evidence and expertise are applied, these recommendations will require ongoing modification." The specific gene variants listed cover a range of mutations mostly linked with cancer and cardiovascular disorders.

You can find the complete list of conditions in the table included in the report.


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