WIKIMEDIA, RUTH LAWSON, OTAGO POLYTECHNICEarlier this year (March 21) the American College of Medical Genetics and Genomics (ACMG) released recommendations on what to do if whole-genome sequencing of patients revealed genetic risks not related to the original purpose of the testing. Last week (May 2) the ACMG released a second document clarifying its findings in the face of criticism.
The group stood by its recommendations, which stated that if sequencing revealed any of 57 dangerous mutations, the patient should be told regardless of whether he or she requested the information and regardless of age.
Critics have focused on the ACMG’s recommendation that findings of mutations be revealed even in children, saying they contradict previous statements that doctors should delay giving diagnostic tests for adult diseases in children until the children are grown up.
The ACMG’s clarification states that they see genetic tests as different from the diagnostics that fall under their other rules. While the diagnostic tests they had been talking about would likely be given to people when they reached adulthood because of known risk factors, in children with no signs of disease ...
