Changes in genetic testing recommendations strengthen patient autonomy

June 16, 2014

Recent modifications in recommendations from the American College of Medical Genetics and Genomics (ACMG) regarding incidental findings (IFs) in genetic testing depart from the College’s 2013 recommendations in favor of an individualized approach. Experts in the Bioethics Program of the Mayo Clinic Center for Individualized Medicine published a review of the updated 2014 recommendations in the journal Mayo Clinic Proceedings.

“The feedback from ACMG members indicated that the 2013 recommendations did not accommodate diverse patient needs,” says Jennifer McCormick, PhD, MPP, who authored the review. The 2013 recommendations embraced an all-or-nothing philosophy, which advised patients who did not want to be informed of some, or all, IFs to forgo whole exome or whole genome sequencing (WES/WGS), according to the review. In addition, the College originally instructed that laboratories “actively search” and notify patients of pathogenic variants in genes, which raised controversy regarding patient rights.

With the 2014 recommendations, patients have more autonomy to customize their WES/WGS results based on their comfort level with knowledge, other than the original reason to seek genetic testing, says McCormick.”This is an important discussion, and the move toward greater autonomy is good for everyone—patients and physicians,” she says. For example, patients can decide before testing to filter their results for only one part of their genome. This step is important because it differentiates between single-gene testing and WES/WGS. Where single-gene testing is selective, whole exome/genome sequencing is comprehensive.

Studies being done at Mayo Clinic and elsewhere are examining the preferences of patients regarding IFs found while conducting WES/WGS. Clinical trials also are being used to learn the advantages and disadvantages of informing patients about the results of their whole genome sequence. Read the article.

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