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Genomics. 2013 Aug;102(2):123-30. doi: 10.1016/j.ygeno.2013.04.002. Epub 2013 Apr 11.

Behavioral and psychosocial responses to genomic testing for colorectal cancer risk.

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Cancer Prevention and Control Program and the Fisher Center for Familial Cancer Research, Lombardi Comprehensive Cancer Center, Georgetown University, 3300 Whitehaven Street, NW, Suite 4100, Washington, DC 20007, USA.


We conducted a translational genomic pilot study to evaluate the impact of genomic information related to colorectal cancer (CRC) risk on psychosocial, behavioral and communication outcomes. In 47 primary care participants, 96% opted for testing of three single nucleotide polymorphisms (SNPs) related to CRC risk. Participants averaged 2.5 of 6 possible SNP risk alleles (10% lifetime risk). At 3-months, participants did not report significant increases in cancer worry/distress; over half reported physical activity and dietary changes. SNP risk scores were unrelated to behavior change at 3-months. Many participants (64%) shared their SNP results, including 28% who shared results with a physician. In this pilot, genomic risk education, including discussion of other risk factors, appeared to impact patients' health behaviors, regardless of the level of SNP risk. Future work can compare risk education with and without SNP results to evaluate if SNP information adds value to existing approaches.


Behavior change; Colorectal cancer risk; Genomic education; SNP testing; Translational genomic research

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