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J Clin Oncol. 2017 Feb 20;35(6):636-644. doi: 10.1200/JCO.2016.67.1503. Epub 2016 Dec 12.

Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study.

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Stacy W. Gray, City of Hope National Medical Center, Duarte, CA; Sarah E. Gollust, University of Minnesota School of Public Health, Minneapolis, MN; Deanna Alexis Carere, McMaster University and Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada; Clara A. Chen and Catharine Wang, Boston University School of Public Health; Angel Cronin and Huma Q. Rana, Dana-Farber Cancer Institute; Sarah S. Kalia and Robert C. Green, Brigham and Women's Hospital; Huma Q. Rana and Robert C. Green, Harvard Medical School; Robert C. Green, Partners Healthcare Personalized Medicine, Boston, MA; Mack T. Ruffin IV, University of Michigan School of Medicine; and J. Scott Roberts, University of Michigan School of Public Health, Ann Arbor, MI.


Purpose Significant concerns exist regarding the potential for unwarranted behavior changes and the overuse of health care resources in response to direct-to-consumer personal genomic testing (PGT). However, little is known about customers' behaviors after PGT. Methods Longitudinal surveys were given to new customers of 23andMe (Mountain View, CA) and Pathway Genomics (San Diego, CA). Survey data were linked to individual-level PGT results through a secure data transfer process. Results Of the 1,042 customers who completed baseline and 6-month surveys (response rate, 71.2%), 762 had complete cancer-related data and were analyzed. Most customers reported that learning about their genetic risk of cancers was a motivation for testing (colorectal, 88%; prostate, 95%; breast, 94%). No customers tested positive for pathogenic mutations in highly penetrant cancer susceptibility genes. A minority of individuals received elevated single nucleotide polymorphism-based PGT cancer risk estimates (colorectal, 24%; prostate, 24%; breast, 12%). At 6 months, customers who received elevated PGT cancer risk estimates were not significantly more likely to change their diet, exercise, or advanced planning behaviors or engage in cancer screening, compared with individuals at average or reduced risk. Men who received elevated PGT prostate cancer risk estimates changed their vitamin and supplement use more than those at average or reduced risk (22% v 7.6%, respectively; adjusted odds ratio, 3.41; 95% CI, 1.44 to 8.18). Predictors of 6-month behavior include baseline behavior (exercise, vitamin or supplement use, and screening), worse health status (diet and vitamin or supplement use), and older age (advanced planning, screening). Conclusion Most adults receiving elevated direct-to-consumer PGT single nucleotide polymorphism-based cancer risk estimates did not significantly change their diet, exercise, advanced care planning, or cancer screening behaviors.

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