Featured Research

from universities, journals, and other organizations

Changes in genetic testing recommendations strengthen patient autonomy

Date:
June 12, 2014
Source:
Mayo Clinic
Summary:
Recent modifications in recommendations regarding incidental findings in genetic testing from the American College of Medical Genetics and Genomics depart from the college’s 2013 recommendations in favor of an individualized approach. Experts have published a review of the updated 2014 recommendations.

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.

"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.


Story Source:

The above story is based on materials provided by Mayo Clinic. Note: Materials may be edited for content and length.


Journal Reference:

  1. Jennifer B. McCormick, Richard R. Sharp, Gianrico Farrugia, Noralane M. Lindor, Dusica Babovic-Vuksanovic, Mitesh J. Borad, Alan H. Bryce, Richard J. Caselli, Matthew J. Ferber, Kiley J. Johnson, Konstantinos N. Lazaridis, Robert R. McWilliams, Joseph A. Murray, Alexander S. Parker, Kimberly A. Schahl, Eric D. Wieben. Genomic Medicine and Incidental Findings: Balancing Actionability and Patient Autonomy. Mayo Clinic Proceedings, 2014; 89 (6): 718 DOI: 10.1016/j.mayocp.2014.04.008

Cite This Page:

Mayo Clinic. "Changes in genetic testing recommendations strengthen patient autonomy." ScienceDaily. ScienceDaily, 12 June 2014. <www.sciencedaily.com/releases/2014/06/140612121312.htm>.
Mayo Clinic. (2014, June 12). Changes in genetic testing recommendations strengthen patient autonomy. ScienceDaily. Retrieved July 29, 2014 from www.sciencedaily.com/releases/2014/06/140612121312.htm
Mayo Clinic. "Changes in genetic testing recommendations strengthen patient autonomy." ScienceDaily. www.sciencedaily.com/releases/2014/06/140612121312.htm (accessed July 29, 2014).

Share This




More Health & Medicine News

Tuesday, July 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Ebola Virus Threatens West Africa

Deadly Ebola Virus Threatens West Africa

AP (July 28, 2014) West African nations and international health organizations are working to contain the largest Ebola outbreak in history. It's one of the deadliest diseases known to man, but the CDC says it's unlikely to spread in the U.S. (July 28) Video provided by AP
Powered by NewsLook.com
$15B Deal on Vets' Health Care Reached

$15B Deal on Vets' Health Care Reached

AP (July 28, 2014) A bipartisan deal to improve veterans health care would authorize at least $15 billion in emergency spending to fix a veterans program scandalized by long patient wait times and falsified records. (July 28) Video provided by AP
Powered by NewsLook.com
Two Americans Contract Ebola in Liberia

Two Americans Contract Ebola in Liberia

Reuters - US Online Video (July 28, 2014) Two American aid workers in Liberia test positive for Ebola while working to combat the deadliest outbreak of the virus ever. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins