Abstract
This article explores the views of general practitioners and specialists on their referral of patients with suspected Lynch syndrome to cancer genetic services. Using a purposive maximum variation sampling strategy, we conducted semi-structured interviews face-to-face with 28 general practitioners and specialists in public or private hospitals and specialist clinics between March and August 2011. General practitioners and specialists were recruited in a major metropolitan area in Australia. Interview transcripts were reviewed by two independent researchers, and thematic analysis was performed using NVivo10 software. The main barriers and motivators identified were: (1) clinician-related (e.g., familiarity with Lynch syndrome and family history knowledge); (2) patient-related (e.g., patients’ interests and personal experience with cancer); and (3) organizational-related (e.g., access to services, guidelines and referral pathway). Referral of patients with suspected Lynch syndrome to cancer genetic services is motivated and hindered by a range of individual, interpersonal and organizational factors. In order to improve the care and quality of life of patients and family with suspected Lynch syndrome, further research is needed to develop supportive tools for clinicians.
Highlights
Known as hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominantly inherited condition caused by germline mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2
We extracted from the interviews factors, which according to the clinicians influence their decision to refer patients with suspected Lynch syndrome for cancer genetics services
Extended quotes for both barriers to and motivators for genetics referral are presented in supplementary tables (Tables S2 and S3)
Summary
Known as hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominantly inherited condition caused by germline mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Compared to the general population, Lynch syndrome mutation carriers have a lifetime risk of up to 70% of developing colorectal cancer [2]. Women with germline mutation have an additional lifetime risks of up to 70% of developing endometrial cancer [2,3], and are at a significantly increased risk of colorectal, kidney, renal pelvis, ureter, urinary bladder and breast cancer ten years following endometrial cancer diagnosis [4]. Given the substantial risk of cancers in Lynch syndrome individuals, identification of individuals and family members at increased risk of developing cancer for genetics services (i.e., genetic counselling, risk assessment and/or genetic testing) is important. Lynch syndrome is often under-recognized, even when patients have clear criteria unrelated to family history [8]. It is known that other factors such as referral guidelines and awareness of genetics services as well as patients requests affect clinicians’
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