Mutation analysis and genetic service: the construction and use of national confidential databases of mutations and...

The development of rapid mutation screening procedures allows the detection of mutations in large populations. This is particularly useful for inherited diseases of high mutational heterogeneity, such as haemophilia A and B, because the analysis of the very many different natural mutants clearly defines the features that are important to the function of the relevant gene and gene product. Furthermore, the characterization of the mutation in an index person from each affected family may lead to the construction of confidential databases of mutations and pedigrees that allow optimization of genetic service. We report how, motivated by the aforementioned concepts, we have planned and introduced in the UK a national strategy to optimize genetic service in both haemophilias and, in particular, we describe the principles that have guided us.