What the new ACMG guidelines really mean

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Imagine that you visit your doctor to determine whether you have a genetic propesnity for high cholesterol, and your doctor finds out that you carry the BRCA 1 gene, which can make a woman five times more likely to develop breast cancer. Does you doctor have an obligation to tell you about your increased risk?

Last week the American College of Medical Geneticists and Genomics (ACMG) issued new guidelines on how doctors should handle unexpected findings when they sequence a patient’s genome. Some news outlets caused a stir by reporting that the guidelines recommend that doctors who sequence a patient’s genome should automatically test for dozens of conditions, and should tell the patient the results whether or not they want to know. The DNA Exchange, a blog by genetics counselors, has the straight-talk on what the recommendations really mean:

… First let me emphasize one thing I believe was often obscured in the first-reaction coverage: the report does not suggest that all incidental findings should be reported.  Not even close.  The list of conditions is relatively short (about 35, although the authors acknowledge that it will inevitably get longer) and strictly curated.  In each case the result in question has a well-established risk of likely and serious harm, at least potentially amenable to intervention.  Likely, serious, preventable: the criteria echo the language of duty to warn, stemming from the famous Tarasoff case in the 1970’s.

Read the full post here: Morality and Reality: Two Arguments in Favor of the Recommendations for Return of Incidental Findings Released by the ACMG


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