Abstract

Background

1% of the UK population is believed to carry single gene alterations predisposing them to certain types of cancer. We have observed number of missed opportunities for referring families affected by familial cancer syndromes, specifically referrals in which multiple family members were affected without any prior genetic testing and referrals in which all affected persons have died, limiting the opportunity for genetic testing. Late referrals to Clinical Genetics translate into missed opportunities and with intervention could prevent some of the morbidity and mortality for families affected by cancer.

Method

We introduced a simplified familial cancer triage system based on 3 individuals affected by associated cancers across 2 generations with 1 member diagnosed under the age of fifty (the 3, 2,1 system). We introduced a System 1 prompt and developed the 'Leicestershire 321 training programme' to train and assess GPs in Leicester City, subsequently comparing referrals with those from Leicestershire and Rutland county over 2 years.

Results

We found general practitioners able to use the triage tool to effectively refer individuals at risk of familial breast and ovarian cancer, identifying difficulty with hormone receptor negative breast cancer, medullary thyroid cancer and colorectal cancer diagnosis below the age of fifty. We found the total referral number increased in both city and county groups (by 45% and 35% respectively) and while there were significantly fewer affected and deceased relatives in both groups with more referrals with 3 or more affected individuals, there was no significant difference between city and county referrals attributable to the triage system.

Conclusion

We demonstrated that the 321 system is easy to teach and does not alter the number or quality of referrals. Our research has lead to the development of a internet based familial cancer calculator (CancerPDX.com) to aid patients and GPs in counselling families affected by cancer.