Preferences for Genetic Testing to Identify Hereditary Colorectal Cancer: Perspectives of High-Risk Patients, Community Members, and Clinicians

Abstract

The aim of this study was to establish key characteristics that patients, consumers, and health professionals value regarding genetic testing (GT) and personalized medicine using the example of GT for hereditary Lynch syndrome. We conducted a series of focus groups with individuals recruited from a clinic that follows those at high risk for hereditary cancer, individuals recruited from the community, physicians, and genetic counselors. Participants were presented with clinical scenarios about Lynch syndrome testing and asked to identify characteristics that they perceived as important in making decisions about GT. Forty-two participants (19 community members, 8 high-risk and cancer patients, 3 genetic counselors, and 8 physicians) participated. Among community members and patients, the most frequently discussed considerations were the personal impact of GT and family impact, respectively. Among physicians, the most frequently discussed topic was the characteristics of genomic services (e.g., test invasiveness); among genetic counselors, the most frequently discussed topic was evidence and recommendations. A variety of test characteristics were important in decision making about GT. High-risk patients, community members, and health care providers had different priorities. Health care professionals should be aware of differences between their own considerations about GT and those that are important to patients.

Public attitudes towards genomic risk profiling as a component of routine population screening

“…Other studies of screening and genetic testing suggest that the ability of test results to inform decision making about prevention or therapeutic interventions is important (Andrykowski et al 1996;Mesters et al 2005;Ramsey et al 2003;Rose et al 2005;Wakefield et al 2007;Walsh et al 2012), and genetic exceptionalism may be reduced when active preventive strategies are available (Ross 2001;Saukko et al 2006). Our findings are consistent with this, although require further examination given the stated limitations.…”

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

“…6,7 This strategy can identify a significant number of Lynch syndrome patients. [8][9][10] A description of genomic sequence and a listing of mutations and single-nucleotide polymorphisms (SNPs) for genes is provided in this document. The entire genomic sequence along with the structural motifs of the genes described in this document can be found at http://www.genome.ucsc.edu.…”

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

“…To construct the DCE used for this study, possible attributes were identified from previously published studies, [21][22][23][24]27 six expert interviews (ie, a scientist with a specific interest in public health genomics, a scientist with a specific interest in ethics of genetics/genomics, a specialist in cancer genetics and three medical specialists in gastroenterology) and five group interviews (n = 38) with the target population of men and women aged 55-65 years. These group interviews were conducted using the Nominal Group Technique.…”

“…22,37 Optimal communication may improve knowledge among the general population and may facilitate informed decision making among individuals who are offered genetic screening. First, respondents deemed survival probability as a highly important test characteristic of genetic screening.…”

“…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.…”