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Journal of Undergraduate Research

Keywords

genomic testing, colorectal cancer, CRC, family health history

College

Family, Home, and Social Sciences

Department

Psychology

Abstract

CRC is the third leading cause of cancer death in the U.S. Despite the fact that screening can detect CRC earlier and lead to better outcomes, screening adherence remains less than optimal in individuals with increased family risk. Identifying the genetic causes of moderate increases in CRC risk may allow individuals to be aware of their risk through genomic testing, rather than relying solely on family history analysis and may facilitate further tailoring of screening and risk reduction recommendations. This research also has implications for clinical practice by informing providers about the broader context of decision-making, which may be important in creating a plan of care. There is a large literature which indicates that colorectal cancer (CRC) screening can significantly reduce risk of CRC, and family history of CRC is one of the strongest risk factors for the disease, yet screening rates among those at increased risk still remains low. Until recently, both individuals and their physicians relied on knowledge of personal family history when making colorectal cancer screening decisions and recommendations. However, genome wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs), which correlate with colon cancer risk. Identifying the genetic causes of moderate increases in CRC risk may allow individuals to be aware of their risk through genomic testing, rather than relying solely on family history analysis and may facilitate further tailoring of screening and risk reduction recommendations. Studies have found a strong interest in geneticbased disease risk information for other cancers and such testing is available direct-to-consumer (DTC). Interest in this type of testing stems from the idea that genetic information will lead to more personalized health care including recommendations for lifestyle behaviors. However, uncertainty still remains as to how well the public understands DTC genetic test results, how well they understand genetic information and how deterministically individuals view disease risk. Thus the goal of this pilot feasibility project is to determine knowledge of, and interest in DTC genetic testing and to determine understanding of genetic risk factors and specifically for colorectal cancer risk in a sample of increased-risk individuals.

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