title: 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.
authors: Division of General Internal Medicine, Department of Medicine, University of California, San Francisco, CA, USA. Judith.Walsh@ucsf.edu
authors: Judith
authors: J
authors: Walsh
authors: Millie
authors: M
authors: Arora
authors: Christina
authors: C
authors: Hosenfeld
authors: Uri
authors: U
authors: Ladabaum
authors: Miriam
authors: M
authors: Kuppermann
authors: Sara J
authors: SJ
authors: Knight
mesh_terms: D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D003657:Decision Making; D005260:Female; D017144:Focus Groups; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010819:Physician's Role; D012111:Residence Characteristics; D018570:Risk Assessment; D014342:Truth Disclosure