Paediatric referral and attendance rates for the clinical genetics service in south-east Scotland--a comparison of a regional clinic with satellite clinics.

BACKGROUND AND AIMS: In some studies the establishment of specialist satellite clinics nearer to the homes of patients has resulted in increased referral and attendance rates, particularly amongst populations in lower socio-economic groups. We investigated the effect on these rates of establishing satellite genetic counselling clinics for families with paediatric conditions in South East Scotland. METHODS AND RESULTS: Families offered appointments at a clinic at the regional paediatric hospital were compared with those offered appointments at a satellite clinic at a local district general hospital. Both groups of families were more socially deprived than the general population (regional clinic p < 0.001, satellite clinics p < 0.05), and in both groups attendance rate at first appointment was 88% and inversely related to social deprivation. There was no evidence of greater attendance amongst more deprived patients at the satellite clinics compared to the regional clinic. CONCLUSION: Our study found no evidence that the establishment of satellite clinics for genetic counselling in South East Scotland increases attendance by families with paediatric conditions in lower socio-economic groups. This suggests that factors other than clinic location determine referral and attendance rates, and these may include understanding of the reason for referral and the advantage of attendance.

Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1.

A recent study, looking at the lifetime risk of developing malignant peripheral nerve sheath tumour (MPNST) in patients with neurofibromatosis type 1 (NF1), estimated the risk to be 8-13%. Prior to this, longitudinal studies had shown that patients with NF1 had a risk of 4-5% of developing MPNST, and cross-sectional studies had found that only 1-2% of patients with NF1 had MPNST. The aim of this study was to estimate the lifetime risk of MPNST in patients with NF1 in southern Scotland, using patient records obtained from the Edinburgh and Glasgow Genetic Units and Scottish Cancer Register. In the period 1993-2002, 14 patients with NF1 were diagnosed with MPNST in a population of 3.5 million. The lifetime risk of MPNST in the Scottish patients with NF1 was calculated to be 5.9-10.3%. This provides further evidence that patients with NF1 are at greater risk of developing MPNST than was previously estimated, and emphasises the importance of educating patients about suspicious symptoms, which may need an urgent medical opinion. The mean age at diagnosis of MPNST (p<0.05) and 5-year survival (p<0.01) were significantly lower in patients with NF1 than in unaffected individuals. This may be due to patients with NF1 presenting later, because the tumour is mistaken for a neurofibroma, or due to MPNST having a more aggressive course in NF1.