A simple saliva gene test that can be done anytime in life, including at birth or early childhood, could help predict the long-term risk of more severe disease and long-term healthcare costs for individuals with common chronic conditions such as eczema and asthma.
A new study by Brighton and Sussex Medical School (BSMS), published in the British Journal of Dermatology, identifies the potential of testing for changes in the filaggrin gene to help predict future healthcare needs. The study was led by Professor Somnath Mukhopadhyay, Chair in Paediatrics at BSMS, with Senior Lecturer Dr Katy Fidler and PhD student Patricia Soares.
The filaggrin gene helps produce a protein that creates a protective barrier on the skin against the entry of outside substances that trigger allergies. Around one in ten people carry a change in this gene, which results in the production of defective protein that can no longer help maintain this skin barrier. The study shows that children with eczema and asthma carrying this gene change have substantially increased needs for both eczema and asthma medication through most of their childhood. Children with asthma carrying the gene change were also more prone to suffer asthma attacks over a nine-year period, increasing both hospital and human costs of the disease.
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% 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.”
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% 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.”
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