Inequality of use of cancer genetics services by members of breast, ovarian and colorectal cancer families in South East Scotland.

Some studies have found a deficiency of male, younger and more socially deprived individuals amongst referrals to and/or attendees at cancer genetics clinics. We investigated this inequality of use of genetics services from data on 4,178 Scottish patients with a family history of breast and/or ovarian cancer (BOC) or colorectal cancer (CRC) referred from 2000--2006. Some 98% BOC and 60% CRC referrals were female. Median age of female referrals was greater in the CRC than the BOC group (45.3 vs. 38.7 years, P < 0.001). Both groups of referrals were less socially deprived than the general population (P < 0.001) and the CRC less deprived than the BOC group (P < 0.001). Some 88% patients attended the first appointment offered. Attendance was greater in the CRC group (P < 0.001) and in older patients (P < 0.001) and in the BOC group was highly significantly lower in more socially deprived patients (P < 0.001). Male relatives may feel counselling is less relevant and relatives of both sexes may delay counselling until approaching the age of onset of cancer in a relative. We suggest that medical professionals and the general public may have more knowledge about the genetics of BOC than of CRC. Thus relatives in CRC families seeking counselling are likely to be those with access to more information. The lower attendance amongst more deprived relatives in BOC families may result from poor understanding of the reason for referral. These findings confirm the need to provide male, younger and more socially deprived relatives with more helpful information on cancer genetics.

Uptake of testing for BRCA1/2 mutations in South East Scotland.

We investigated the uptake of genetic testing by 54 families in South East Scotland with a BRCA1/2 mutation. At a median of 37 months since identification of the mutation, the overall rate of uptake of testing in 269 eligible family members was 32%. First-degree relatives were significantly (P<0.05) less likely to be referred for genetic counselling in more, compared to less, socioeconomically deprived families (46 versus 68%). Among relatives who attended for genetic counselling, females were more likely to be tested than males (76 versus 53%; P<0.05) and relatives with children more than those without children (82 versus 53%; P<0.001). Tested relatives were older than relatives who did not undergo testing (mean 41.9 versus 36.8 years, P<0.05) but did not differ in degree of relationship to the index case or in socioeconomic deprivation. Our results confirm the findings from other studies of substantially lower rates of uptake of genetic testing for BRCA1/2 mutations than anticipated in earlier predictions. Relatives in more socioeconomically deprived families were less likely to be referred for genetic counselling, which is a matter of concern. This may be partly the result of a lack of understanding of the testing process. Cascading currently does not work in breast cancer families and further work is required to investigate intrafamilial communication patterns, testing behaviour and counselling strategies.