Translational genomic research: protocol development and initial outcomes following SNP testing for colon cancer risk

TLDR

SNP testing for disease susceptibility is commercially available, but translational studies are needed to understand how to communicate genomic information and its public health implications. The study explored attitudes about and initial responses to genomic testing for colon cancer risk. The researchers developed educational materials and offered testing for three colon cancer SNPs to primary care patients, who completed pre‑ and post‑test sessions and interviews that were thematically analyzed. All 20 participants opted for SNP testing; qualitative analysis revealed themes around motivations, meaning of results, emotional responses, and genomic literacy, showing that individuals pursue testing with education and that results may influence health behaviors but not colon cancer screening intentions.

Abstract

Although single nucleotide polymorphism (SNP) testing for disease susceptibility is commercially available, translational studies are necessary to understand how to communicate genomic information and potential implications for public health. We explored attitudes about and initial responses to genomic testing for colon cancer risk. Following development of the educational materials, we offered testing for three colon cancer SNPs in a pilot study with primary care patients. Participants completed pre- and post-test sessions and interviews. We analyzed interview transcripts with qualitative software using thematic analysis. All 20 participants opted for SNP testing. Qualitative analysis identified several themes: Motivations for SNP Testing, Before/After: Meaning of Results, Emotional Responses to SNP Results and Genomic Literacy/ Information Delivery. Results demonstrate that individuals will pursue SNP testing in the context of pre and post-test education. SNP results may influence health behaviors like healthy eating and exercise yet did not appear to impact colon cancer screening intentions.