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Gene-testing dispute focuses on how much a patient should know

Posted: May 17, 2013 - 12:06am

BOSTON — Should patients undergoing broad DNA testing for a specific ailment be told of unexpected findings that signal risk of cancer or other serious diseases, even if they don’t request the information?

The question is at the core of a battle brewing among doctors and ethicists amid growing use of gene sequencing for clinical use and the plethora of information that results from such tests. Writing Thursday in the journal Science, a team of ethicists said patients should decide how much they want to know and how deeply scientists should look into their genome.

The disagreement is with an April recommendation by the American College of Medical Genetics and Genomics. The group said labs testing large swaths of patients’ DNA should routinely seek and report back on 57 gene abnormalities that signal treatable or preventable illnesses. Patients should be given the option not to learn about those risks, the ethicists led by Susan Wolf of the University of Minnesota, said in the Science article.

“If doctors are going to analyze all that information, they should get consent from the patient,” said Sherman Elias, a geneticist at Northwestern University in Chicago who co-wrote the essay criticizing the guidelines. “This is a question of whether patients have a right to decide what testing is done on them and for their children.”

A separate contribution to the journal supports the guidelines that were issued by the American College of Medical Genetics and Genomics.

The European Society of Human Genetics also released recommendations today that call for limits on the use of broad DNA sequencing. Doctors should target genetic sequencing, when possible, to avoid deciphering the content of genes that may contain information patients might not want to know, the European society said today in a statement.

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