UK Clinical Molecular Genetics Society annual audit

3 October 2005

The Clinical Molecular Genetics Society (CMGS) performs an annual audit of activity in UK National Health Service laboratories; results from the 2003-4 audit are now available, and provide an interesting summary of activity in this area. The total number of postnatal tests performed was over 65,000, excluding the figures for aneuploidy and leukaemia testing, which contributed a further 5,000. Around 300 different disorders were tested for of which the most common were Fragile X and cystic fibrosis, representing 18% and 17% of the total number of tests, followed by familial breast cancer (BRCA gene mutations), hereditary haemochromatosis and the Factor V Leiden mutation. For prenatal testing (a total of 1260 reports, excluding those for aneuploidy), by far the most common disorder was cystic fibrosis (34% of the total), followed by sickle-cell anaemia (18%), Duchenne muscular dystrophy (8%) and beta-thalassaemia (7%). At least 82 different disorders were tested for prenatally; some of the rarest disorders were not reported individually.

The audit also reports the numbers of tests imported to and exported from participating laboratories, including internationally (around 12,000 and 8,400 respectively) and the disorders they covered, information on laboratory staffing, and also on average reporting times for certain tests. Of note, whereas routine requests for cystic fibrosis and Fragile X testing were met within three weeks, the much more complicated tests for mutations in the BRCA and HNPCC genes (involved in familial breast and colorectal cancers, respectively) took on average 23 and 27 weeks.

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