• Genetic counselling;
  • referral;
  • guidelines;
  • familial cancer


Objective: Professional guidelines define the risk categorisation of patients for a genetic predisposition to cancer based on family history. These guidelines inform the appropriate referral of patients to specialist familial cancer services. Our study aimed to determine the quality of referral letters from general practitioners and specialists to genetic services for breast, ovarian and colorectal cancers, and their compliance with relevant professional guidelines.

Methods: A retrospective review of the referral letters and patient files of 241 consecutive patients referred between June and October 2008.

Results: Sufficient information to make a risk assessment was provided in 71% of referrals. Of these, 89% were compliant with guidelines. Genetic counsellors collected further information on 167 of the 241 referred patients and of these 83% were appropriate for referral according to guidelines.

Conclusions and implications: Overall, referrals to familial cancer genetic services complied with professional referral guidelines. The majority of referrals were high quality, and with additional information, most patients were shown to be appropriate for review in a familial cancer clinic. Despite this, a better understanding of the reasons for non compliant referrals, and appropriate targeted education and resources is recommended to improve referral quality and compliance.