The study was led by Professor Somnath Mukhopadhyay, Chair in Paediatrics at BSMS, with Senior Lecturer Dr Katy Fidler and PhD student Patricia Soares.
Professor Mukhopadhyay said: “Having a gene test available at birth could lead to two very significant benefits. Firstly, it could help healthcare professionals provide a more personalised approach to treatment for the 10 per cent of children who carry the gene defects, by more regular use of emollients and other creams and better support from nurses. Started early in infancy or childhood, such a targeted approach could lessen the impact of disease in children with eczema and asthma over the rest of their childhood.
“Secondly, although more expensive at the start, such strategies could in the longer term reduce the overall costs for medicines and hospital admissions, and the day-to-day human costs of these conditions, such as through loss of schooling and loss of earnings, and thus benefit society as a whole. We are currently planning studies to test these precision medicine approaches for children.”
Professor Mukhopadhyay said although other gene changes are known to predict disease, the scenarios are different, and the conditions often do not affect such a large percentage of the population. For example, changes in the BRCA gene predict breast and other cancers, but the BRCA gene changes are much rarer, affecting one in 400 people rather than the much commoner one in ten frequency for filaggrin-related gene changes affecting eczema and asthma. Also, breast cancer, although a much more serious disease, is less common and usually presents much later in life, while childhood eczema and asthma affect 20 per cent of the population, sometimes from early infancy.
Even so, enhanced awareness of the BRCA gene test in predicting cancers has led to a demand for such testing. It has also led to guidance – from the NHS and international bodies – regarding such testing in individuals with a family history of certain cancers.
Professor Mukhopadhyay added: “We have identified that genetic changes in one single gene – filaggrin – influence a cost difference of at least £20 million for childhood sufferers of eczema and asthma in the UK. This suggests that when genetic profiling for thousands of genes become widely available we may be able to identify substantial differences in terms of healthcare costs between different individuals.”