UK Clinical Molecular Genetics Society annual audit

18 February 2009

The UK Clinical Molecular Genetics Society (CMGS) has recently completed the latest annual audit of National Health Service genetics laboratories. The 2007-8 figures show a significant rise in the total number of samples processed for NHS services (as opposed to research), increasing by 40% to a total of 152,593 for the 26 out of a total of 28 laboratories that provided audit data.

For postnatal reports there was a 20% increase on the previous year to more than 99,000 in total (excluding leukaemia and DNA storage samples), and a 15% increase in single gene disorder reports. The most frequently performed tests were for cystic fibrosis (12%), Fragile X syndrome (11.6%) and familial cancer BRCA gene mutations (10%). This order is the same as for 2005-6 (see previous news), but the proportion of cystic fibrosis and Fragile X tests has fallen and that of BRCA tests increased since then. The fourth most common category of postnatal reports was for DNA bank samples (6.2%), ahead of hereditary haemochromatosis HFE gene mutations (5.7%). Factor V Leiden mutation testing has fallen from 3.6% of all postnatal reports in 2005-6, to 1.1% for 2007-8. In all, more than 400 different categories of postnatal report were recorded.

The total number of prenatal reports was similar to the previous year at more than 7500; the majority of these were for common aneuploidies (79%). The total for indications other than aneuploidy testing was 11% higher than the previous year at 1347; of these, the most common category was cystic fibrosis tests (27%), followed by cell-free fetal DNA samples for analysis (11%) – see previous news for more information about this emerging form of early non-invasive prenatal diagnosis, which may account for much of the total rise in test numbers. Sickle-cell anaemia was the third most common test indication (10%).

Numbers of predictive and confirmatory tests are now being assessed for the Genetics and Insurance Committee (GIAC) report, with a similar total number of tests recorded as for the previous year (5874). The most common test was for BRCA 1/2 mutations associated with familial breast and ovarian cancer (more than 2000 in total), followed by the most common forms of familial colorectal cancer, HNPCC (~750) and FAP (~250). Huntington’s disease, Marfan syndrome, long QT syndrome and familial hypercholersterolaemia each accounted for around 250 tests.

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