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Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results.
Journal of Genetic Counseling 2019 Februrary 3
Rationales for returning results from whole genome sequencing (WGS) and genetic testing have historically focused on medical utility. Understanding the wide array of actions individuals might take following genetic testing results could have important implications for clinical care. We aimed to survey the public regarding their perceptions of the importance of a wide variety of different actions one might take upon receiving hypothetical results from a WGS test where the results indicate a high risk of developing a genetic condition. We assessed whether demographic characteristics, type of condition, and perceived severity of the condition differentially affected importance ratings of actions they would take. In a survey administered at the 2015 Minnesota State Fair, 909 participants imagined that they had a blood test that looked at their genes and indicated that they were at high risk of developing one of three randomized conditions (Alzheimer's disease, macular degeneration, or colon cancer). Participants rated the importance of 35 actions. Principal component analysis, used to categorize actions, yielded eight categories: (1) medical management and communication; (2) partner support; (3) support and life fulfillment; (4) diet and exercise; (5) distal planning; (6) religion/spiritual support; (7) reproductive actions; and (8) proximal planning. Participants rated a wide range of actions as important, with medical management and communication, and partner support receiving the highest mean ratings. Linear regression yielded significant associations between importance ratings and demographics variables (age and gender), genetic condition, and perceived severity of the condition for different action categories. Genetic counselors and other healthcare professionals should consider a variety of possible patient actions beyond medical actionability when discussing genetic testing results.
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