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

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.

Discussing race-related limitations of genomic testing for colon cancer risk: Implications for education and counseling

“…Information presented with low immediacy by genetic counselors has been reported before (Roter et al, 2009) and this pattern has strong associations with subsequent patient knowledge scores, with lower immediacy correlating with lower subsequent knowledge (Roter et al, 2009). Moreover, this comprehension pattern also qualitatively appeared to occur in this data, although comprehension is explored in detail by Nusbaum and colleagues (Nusbaum et al, 2013). In the present study, genetic counselors directed the communication as noted by their use of few socio-emotional statements and techniques to regulate the information and pace.…”

“…Rather, we focused the analyses on the transcripts from each pre-test and post-test session and the process questionnaires completed by the genetic counselors. Analyses were informed by communication theories of oral literacy (Roter et al, 2007), and reciprocal engagement (Veach et al, 2007) and our empirical and clinical experiences related to cancer risk counseling and health care communication (Graves, Peshkin, Luta, Tuong, & Schwartz, 2011; Graves et al, 2011; Leventhal et al, 2013; Nusbaum et al, 2013). …”

“…Participants were offered free genomic testing for a research panel of 3 SNPs related to colorectal cancer risk. Details of the development of the 3-SNP panel, risk algorithms, and educational materials are described elsewhere (Graves et al, 2013; Nusbaum et al, 2013). …”

Behavioral and psychosocial responses to genomic testing for colorectal cancer risk

“…The recruitment materials clearly explained that SNP testing was optional. The consent document emphasized the uncertain clinical utility of SNP testing and described the risks and benefits of study participation and SNP testing [18]. …”

“…Details of the material content have been published elsewhere [18]. Briefly, the pre-test materials included descriptions of risk factors for CRC; definitions of SNPs and how SNPs might be related to CRC risk; the benefits, limitations and risks of SNP testing and steps to reduce risk of CRC.…”