Inadequate referral for genetic evaluation of patients with CRC

Backgrounds and Aims: In the Netherlands annually 4500 individuals die due to colorectal cancer (CRC). Identification of people with a high risk of CRC can reduce the prevalence and mortality of colorectal carcinoma. For some individuals additional genetic investigation or a thorough follow up through regular colonoscopies is indicated. In selecting individuals with an elevated risk of CRC a comprehensive family history is essential. Individuals who meet the criteria of the Bethesda guidelines for hereditary colon cancer should be referred to a genetic centre. Our aim was to evaluate which percentage of individuals, who met the Bethesda criteria, actually were referred to a genetic centre. Methods: A self-administered family history questionnaire was send to 176 individuals operated for CRC in the Gelderse Vallei Hospital from January 2004 till December 2005 and still alive in March 2007. Completed questionnaires were returned by 154 individuals (87.5%). Results: 39 individuals (25.3%)met the Bethesda criteria and should have been referred. However, only 6 of them (15.4%) were actually referred to a genetic centre. Conclusions: This study shows that the present accuracy in referring patients with CRC often fails. The majority of individuals who should be referred to a genetic centre are not. More interest in identification of patients with elevated risk of CRC through criteria based on family history is essential.