Personal genomic testing for cancer risk: Results from the impact of personal genomics study

Stacy W. Gray, Sarah E. Gollust, Deanna Alexis Carere, Clara A. Chen, Angel Cronin, Sarah S. Kalia, Huma Q. Rana, Mack T. Ruffin Iv, Catharine Wang, J. Scott Roberts, Robert C. Green

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)636-644
Number of pages9
JournalJournal of Clinical Oncology
Issue number6
StatePublished - Feb 20 2017

Bibliographical note

Funding Information:
Supported by the National Institutes of Health (NIH) National Human Genome Research Institute (Grant No. R01-HG005092). S.W.G. is supported by National Human Genome Research Institute (Grant No. U01HG006492) and by the American Cancer Society (Grant No. 120529-MRSG-11-006-01-CPPB). D.A.C. was supported by a Canadian Institutes of Health Research Doctoral Foreign Study Award when these analyses were performed. C.W. is supported by Grant No. NIH K07CA131103. R.C.G. is supported by Grants No. U01- HG006500, U19-HD077671, U01-HG008685, and U41-HG006834.

Publisher Copyright:
©2016 by American Society of Clinical Oncology.


Dive into the research topics of 'Personal genomic testing for cancer risk: Results from the impact of personal genomics study'. Together they form a unique fingerprint.

Cite this