Jordan Sgro and Wendy Birmingham, Psychology

Introduction

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.

Methodology

Participants were 16 couples total, in which one member of the couple had a first degree relative (FDR) diagnosed with colorectal cancer. All participants were over the age of 35 recruited through Huntsman Cancer Institute. Eligible, consented FDRs and their spouses were scheduled for a lab visit at BYU in the University Parkway Center lab space. Study staff consented and administered the baseline survey for both the FDR and the spouse. The baseline questionnaire assessed genetic-testing knowledge and genetic deterministic attitudes. A licensed, American Board of Genetic Counseling certified counselor met with the couple and led them through a National Cancer Institute website designed to deliver a semi-personalized evaluation of colorectal cancer risk based on family history, polyp history, medication use, diet, and physical exercise. The counselor answered any questions relevant to the website information and then presented additional information regarding DTC genetic testing. A short follow-up survey was administered following the counseling session, which assessed participants’ interest in obtaining genetic DTC testing.

Results

Demographics. Participants were all legally married and living together and ranged in age from 39 years to 70 years with a mean age of 57. Most were white (91%), had at least some college (90%), and all who reported an income over $40,000.

Health. We assessed family cancer history and found that most (both FDRs and spouses) had a first-degree relative diagnosed with cancer (84%). Our sample exhibited mostly healthy behaviors with only one participant reporting being a smoker. Mean reported weekly hours of exercise were 2.48 (SD 4.75); weekly mean hours of sleep were 47.13 (SD 7.05), and weekly alcoholic drinks consumed was 1.35 (SD 2.71). BMI ranged from 19.17 to 36.18 (M=26.82, SD 4.75).

Genetic Determinism. Our study aims included an examination of deterministic behavior. In other words, did participants feel that disease was a result of genetic components and behavior, or are genetics alone more likely to contribute to disease risk? Our analysis indicated that both FDRs and their spouses mostly agreed that genetics were more important in disease risk than behaviors (FDR M=3.6; Spouse M=3.4).

Knowledge. We also assessed how knowledgeable participants felt about genetic information. Our analysis showed low levels of genetic self-efficacy for both FDRs and for the spouses (FDR M=2.6; Spouse M=2.9)..

Behavioral Intentions. Participants were given a follow up questionnaire after their session with the genetic counselor asking: “After viewing the presentation today, do you think you would be likely to get a genetic assessment test for colorectal cancer risk? _____Yes _____No _____Unsure”. Overall, 12 indicated yes, 8 indicated no, and 9 indicated that they were unsure.

Lastly, we assessed where individuals had found information pertaining to DTC genetic testing. People generally had heard about genetic testing through TV (50%), magazine articles (40%), and the radio (40%).

	TV	Internet	Professional Organization	Magazine Article	Newspaper Article	Radio	Other
FDR	3	2	0	2	1	2	3
SPOUSE	4	2	1	2	4	2	1

Discussion

The purpose of this project was to determine knowledge of, and interest in DTC genetic testing and understanding of genetic risk factors specifically for colorectal cancer risk in a sample of increased-risk individuals. Our findings indicate that our participants, overall were fairly healthy and exhibited mostly healthy behaviors. However, the socioeconomic status of our sample (i.e., mostly White, educated, and with a good income) may have led to this finding. Participants indicated higher levels of genetic determinism but were fairly split when it came to interest in obtaining genetic testing. Genetic determinism could influence their desire to get tested, such that if they felt their own risk was going to be particularly high, and they feel that, due to genetic factors there was nothing they could do to reduce risk, they may not have wanted to receive that information. We assessed cancer fear, which could certainly play into this attitude, and will, in later analysis determine if cancer fear impacted interest in genetic testing. Participants also exhibited low levels of genetic self-efficacy which may also have influenced their interest in testing. Individuals who may feel that they cannot adequately interpret their own genetic risk from test results may be reluctant to get tested.

We are in the process of writing up our findings for the International Association for Relationship Research annual conference, which meets in July of this year. We also plan to submit findings to the American Association for Cancer Research annual conference. We are also in the process of writing up our findings to submit to a journal for publication.

Conclusion

Cancer remains a leading killer of both men and women in the U.S. There are no studies we are aware of focusing on interest and knowledge of DTC genetic testing and understanding of certain risk factors in the specific population we looked at (e.g., individuals at increased risk for colorectal cancer). Future studies should examine what factors would motivate individuals with cancer family history to obtain genetic testing.