“Is it Really Worth it to Get Tested?”: Primary Care Patients’ Impressions of Predictive SNP Testing for Colon Cancer

Abstract

Despite significant progress in genomics research over the past decade, we remain years away from the integration of genomics into routine clinical care. As an initial step toward the implementation of genomic-based medicine, we explored primary care patients’ ideas about genomic testing for common complex diseases to help develop future patient education materials and interventions to communicate genomic risk information. We conducted a mixed-methods study with participants from a large primary care clinic. Within four focus groups, we used a semi-structured discussion guide and administered brief pre- and post- discussion quantitative surveys to assess participants’ interest, attitudes, and preferences related to testing and receipt of test results. Prior to the discussion, moderators presented a plain-language explanation of DNA and genetics, defined “SNP”, and highlighted what is known and unknown about the risks associated with testing for SNPs related to colorectal cancer risk. We used the NVIVO 8 software package to analyze the transcripts from the focus group discussions. The majority of participants (75%) were “very” or “somewhat interested” in receiving information from a colon cancer SNP test, even after learning about and discussing the small and still clinically uncertain change in risk conferred by SNPs. Reported interest in testing was related to degree of risk conferred, personal risk factors, family history, possible implications for managing health /disease prevention and curiosity about genetic results. Most people (85%) preferred that genetic information be delivered in person by a healthcare or genetics professional rather than through print materials or a computer. These findings suggest that patients may look to genetic counselors, physicians or other healthcare professionals as gatekeepers of predictive genomic risk information.

Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age

“…Across different types of possible results, participants expressed interest in learning about health implications, risk and prevalence statistics, causes of the variant, and causes of diseases, both for themselves and for family members. The finding of the importance of health implications is consistent with prior literature; learning health information was a primary motivation to pursue genetic testing and genome sequencing in previous studies (Christenhusz et al 2014; Facio et al 2011; Hitch et al 2014; Leventhal et al 2013; O’Neill et al 2013; Wright et al 2014). For instance, focus group participants from a cohort undergoing clinical sequencing expected their results to provide information about their current or future health (Wright et al 2014).…”

“…The American College of Medical Genetics and Genomics (ACMG) has recommended what results to return after clinical sequencing (Green et al 2013). In addition, prior research has shown that patients want to receive individual results from genome sequencing (Kaphingst et al 2016; Matsui et al 2008; Murphy et al 2008; O’Daniel and Haga 2011), although findings regarding what specific types of results patients want returned are mixed (Hitch et al 2014; Kaphingst et al 2016; Leventhal et al 2013; Wright et al 2014; Yu et al 2014). However, much less is known about what information patients would like to learn about each genome sequencing result when it is returned (Bredenoord et al 2011; Dressler 2009a, b).…”

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

“…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). …”

“…Therefore, the absolute decrease in clinical utility among minorities is quite small relative to the current limited utility among all people and thus perhaps a distinction without a difference. We have explored participants’ understanding of the “gist” of the genomic risk information in our prior work (Graves et al, 2013; Leventhal et al, 2013). Briefly, participants appear to understand that at present, genomic risk information may be one small piece of their overall risk for colorectal cancer given the uncertainties that surround the information.…”

Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment

“…17,19 Despite these potential negative consequences, the general population shows great interest in genetic screening and has a positive attitude towards such screening initiatives. 16,[20][21][22] Previous research shows that individuals are willing to take part in genetic screening when the test aims to identify an increased risk for a monogenic form of a common disease, when adequate treatment and/or prevention options are available and when clinicians recommend screening. 21,[23][24][25] To date, no research has been conducted into studying the preferences of the general population for genetic testing for CRC specifically within a screening situation.…”