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

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Translational Behavioral Medicine

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.

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Acknowledgments

This project was supported by funding through NCI K07CA131172 and NCIK07CA131172-S2 (KG), the Genomics and Epigenomics Shared Resource at the Lombardi Comprehensive Cancer Center, Georgetown University, which is partially supported by NIH/NCI grant P30-CA051008 and from the Fisher Center for Familial Cancer Research.

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Authors and Affiliations

  1. Cancer Prevention & Control Program, Lombardi Comprehensive Cancer Center, 3300 Whitehaven Street, NW, Suite 4100, Washington, DC, 20007, USA

    Rachel Nusbaum MS, Kara-Grace Leventhal BA, Beth N Peshkin MS, Morgan Butrick ScM, Yasmin Salehizadeh BA, William Tuong BA, Marc D Schwartz PhD & Kristi D Graves PhD

  2. The Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training Program, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA

    Gillian W Hooker PhD, ScM

  3. Population Studies and Disparities Program, Department of Oncology, Wayne State University School of Medicine/Karmanos Cancer Institute, Detroit, MI, USA

    Susan Eggly PhD

  4. Genomics and Epigenomics Shared Resource, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA

    Jeena Mathew MS & David Goerlitz MS

  5. Comprehensive Cancer Center, Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University, Columbus, OH, USA

    Peter G Shields MD

  6. Fisher Center for Familial Cancer Research, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA

    Rachel Nusbaum MS, Kara-Grace Leventhal BA, Beth N Peshkin MS, Morgan Butrick ScM, Yasmin Salehizadeh BA, William Tuong BA, Marc D Schwartz PhD & Kristi D Graves PhD

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  1. Rachel Nusbaum MS
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  2. Kara-Grace Leventhal BA
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  9. Jeena Mathew MS
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Correspondence to Kristi D Graves PhD.

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Implications

Practice: In-person pre- and post-test genomic education results in informed uptake of SNP testing for cancer risk and may have implications for improved motivation for and uptake of certain health behaviors.

Policy: Resources for public health genomic education and continued oversight and regulation of commercially available genomic testing are warranted given the complexities of communicating and understanding genomic information.

Research: Next steps for translational genomic medicine research include larger-scale efforts to examine the clinical utility of genomic results on health behavior outcomes.

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Nusbaum, R., Leventhal, KG., Hooker, G.W. et al. Translational genomic research: protocol development and initial outcomes following SNP testing for colon cancer risk. Behav. Med. Pract. Policy Res. 3, 17–29 (2013). https://doi.org/10.1007/s13142-012-0149-0

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