Computer algorithms for rare disease

EUROCAT, the European network of 43 population-based registries in 23 countries, provides epidemiologic information on congenital anomalies in an effort to prevent and treat teratogenic exposures. A recently published study (consult the PubMed abstract), based on data collected in 2004 and 2010 from 19 European registries covering almost one million births, describes EUROCAT’s breakthrough efforts to standardise the classification of multiple congenital anomalies (MCA), a subgroup of rare diseases associated with a range of birth defects.

Based on the International Classification of Disease codes, the study suggests that EUROCAT’s computer algorithm, combined with clinical investigations of potential MCA cases, could serve as gold standard for MCA surveillance. EUROCAT’s analysis, using this comprehensive case classification and standardised methodology, obtained stable MCA prevalence (15.8 per 10,000 births), consistent with past large population studies.