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Genotype testing improves paediatric asthma care

Tuesday September 8th 2020

Personalising treatments according to genetic differences could help some children with asthma, a medical congress will hear today (8 September 2020).

The first research of its kind, to be presented at the virtual European Respiratory Society International Congress, compared children and teenagers who were treated according to small genetic differences with those who were treated according to existing guidelines.

Dr Tom Ruffles, honorary consultant in paediatric respiratory medicine at Brighton and Sussex Medical School (BSMS), UK, said their findings suggest that children’s asthma symptoms could be better controlled with personalised treatments.

The research involved 241 children aged between 12 and 18 years, all of whom were being treated for asthma by their GPs.

The participants were randomly assigned either to receive treatment according to existing guidelines, or to therapy according to their genotype.

Those in the genotype cohort gave a sample of cells scraped from the inside of their cheeks and researchers tested for a small difference in the gene that contains instructions for making the beta-2 receptor, looking for children who had either with one copy of the altered gene or with two copies of the altered gene.

Previous research suggests that most children with asthma will benefit from standard treatment of salmeterol plus their regular steroid inhaler.

However, about one in seven children have a small genetic difference that means they would suffer more asthma symptoms.

The children in the personalised medicine group who had the genetic difference were treated with montelukast and were monitored for a year so they could score their quality of life, from one to seven.

When the researchers compared the average score of the personalised treatment group with the average score of children who were treated according to current practice, they found a small improvement of 0.16 with those who received personalised care.

However, when they looked specifically at the children who had two copies of the altered beta-2 receptor gene, they found children experiencing an average 0.42 improvement in their quality of life score.

The researchers say this would translate to a noticeably better quality of life for the children with two altered gene copies.

Study lead Professor Somnath Mukhopadhyay, chair in paediatrics at the Royal Alexandra Children’s Hospital, said: “These results are very promising because they show, for the first time, that it could be beneficial to test for certain genetic differences in children with asthma and select medication according to those differences.

“In this study, we saw only a modest effect, but this may be partly because the children’s asthma was generally very well controlled and only a few children experienced any serious symptoms during the 12-month period. Larger trials, with a focus on those with poorer asthma control, may help us determine the true benefit for children of prescribing in this way.”

The trial was conducted and managed by the Tayside Clinical Trials Unit at the University of Dundee, UK.

Ruffles T et al. Effect of controller prescribing according to rs1042713 genotype on asthma related quality of life in young people (PACT): a randomized controlled trial. Presented in ALERT: Asthma in adults and children at the European Respiratory Society International Congress.

Tags: Allergies & Asthma | Child Health | Europe | Genetics | Pharmaceuticals | UK News

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