Abstract

This study assessed Australian clinicians’ knowledge, attitudes and referral patterns of patients with suspected Lynch syndrome for genetic services. A total of 144 oncologists, surgeons, gynaecologists, general practitioners and gastroenterologists from the Australian Medical Association and Clinical Oncology Society responded to a web-based survey. Most respondents demonstrated suboptimal knowledge of Lynch syndrome. Male general practitioners who have been practicing for ≥10 years were less likely to offer genetic referral than specialists, and many clinicians did not recognize that immunohistochemistry testing is not a germline test. Half of all general practitioners did not actually refer patients in the past 12 months, and 30% of them did not feel that their role is to identify patients for genetic referral. The majority of clinicians considered everyone to be responsible for making the initial referral to genetic services, but a small preference was given to oncologists (15%) and general practitioners (13%). Patient information brochures, continuing genetic education programs and referral guidelines were favoured as support for practice. Targeted education interventions should be considered to improve referral. An online family history assessment tool with built-in decision support would be helpful in triaging high-risk individuals for pathology analysis and/or genetic assessment in general practice.

Highlights

  • Lynch syndrome, known as hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited cancer syndrome caused by defect in one of the mismatch repair (MMR) genes—MLH1, MSH2, MSH6 and PMS2

  • Our findings suggest a slight preference by all respondents for the oncologists and general practitioner (GP) to make the initial referral for genetic services; a significant proportion of GPs did not feel that their role is to identify patients for genetics referral or to order IHC or microsatellite instability (MSI) testing

  • Our study suggested that genetics education is necessary for clinicians in order to improve genetic referral

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Summary

Introduction

Known as hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited cancer syndrome caused by defect in one of the mismatch repair (MMR) genes—MLH1, MSH2, MSH6 and PMS2. It accounts for about 5% of all colorectal and endometrial cancers diagnosed [1,2]. Women carrying MMR gene mutations who are diagnosed with endometrial cancer have increased risks of second primary colon cancer (about 40-fold) or other extracolonic cancers (up to 28-fold) compared with that for the general population [5]. Local and international studies have reported that only a small proportion of individuals suspected to have Lynch syndrome were identified and referred to a clinical genetics service/family cancer clinic for further genetic consultation and possible genetic testing [6,7,8,9,10]

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