• Magnifying Glass

    Changes in Genetic Testing Recommendations Strengthen Patient Autonomy

ROCHESTER, Minn. ― Recent modifications in recommendations regarding incidental findings (IFs) in genetic testing from the American College of Medical Genetics and Genomics (ACMG) 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 Proceedings.

Pictured is Circos plot, depicting the results of genome sequencing. The green dots are areas that might implicate a disease, but the rest of the results may reveal information that the patient does not necessarily want to know.
Pictured is Circos plot, depicting the results of genome sequencing. The green dots represent areas that might have implications in a particular disease. The rest likely contains medical information that a patient may or may not want to know.

“The feedback from ACMG members indicated that the 2013 recommendations did not accommodate diverse patient needs,” says Jennifer McCormick, Ph.D., M.P.P., 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 Dr. McCormick.

"This is an important discussion, and the move toward greater autonomy is good for everyone ― both patients and physicians," says Dr. McCormick. "Medicine in general is moving toward more patient autonomy and shared decision making. Genomics and individualized medicine happen to be the starkest and least well-defined examples of this trend ― we have no best practices yet."

Much genomic analysis is meant to aid the patient in making medical decisions, sometimes in the distant future, and there are often far-reaching implications for family members, say Dr. McCormick and her co-authors. These factors combine to make this type of testing very personal, especially regarding incidental findings. 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.

Other authors include Richard Sharp, Ph.D.; Gianrico Farrugia, M.D.; Noralane Lindor, M.D.; Dusica Babovic-Vuksanovic, M.D.; Mitesh Borad, M.D.; Alan Bryce, M.D.; Richard Caselli, M.D.; Matthew Ferber, Ph.D.; Kiley Johnson, C.G.C.; Konstantinos Lazaridis, M.D.; Robert McWilliams, M.D.; Joseph Murray, M.D.; Alexander Parker, Ph.D.; Kimberly Schahl, C.G.C.; and Eric Wieben, Ph.D., all of Mayo Clinic.


About Mayo Clinic
Recognizing 150 years of serving humanity in 2014, Mayo Clinic is a nonprofit worldwide leader in medical care, research and education for people from all walks of life. For more information, visit 150years.mayoclinic.org, http://www.mayoclinic.org/ and newsnetwork.mayoclinic.org.

About the Mayo Clinic Center for Individualized Medicine
The Mayo Clinic Center for Individualized Medicine is home to the Individualized Medicine Clinic, the world’s first integrated multidisciplinary genomics clinic, serving patients with advanced cancer and complex diagnoses. The center discovers and integrates the latest in genomic, molecular and clinical sciences into personalized care for each Mayo Clinic patient. Visit http://mayoresearch.mayo.edu/center-for-individualized-medicine for more information.

Sam Smith, Mayo Clinic Public Affairs, 507-284-5005, newsbureau@mayo.edu