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Treatment according to genotype: The future of asthma therapy?

Presented by
Dr Tom Ruffles, Brighton & Sussex Medical School, UK
ERS 2020
In the first study assessing personalised care, paediatric asthma patients seem to experience a small benefit in their quality of life when treated according to their rs1042713 genotype [1].

Drugs do not work the same in every patient. “Even if there are several reasons, like non-compliance, there are still people who do not respond. With our study, we wanted to find out whether variations in the gene status have an influence on the efficacy of a drug,” said Dr Tom Ruffles (Brighton & Sussex Medical School, UK).

The study included 241 children aged 12-18 years from England and Scotland. Asthma genetic differences were determined using a saliva sample: researchers looked for 1 or 2 copies of an altered gene of the β2 receptor. Participants were randomised to personalised care (i.e. rs1042713 genotype-based prescribing) or standard care according to existing guidelines. A 4-week run-in period was followed by a 12-month treatment and follow-up phase. Study questionnaires were completed online or over the phone and medications were prescribed by the participants´ general practitioner. Patients with no gene defect were treated with salmeterol, and those with gene defects with montelukast.

After a year, only a small improvement of 0.16 in the Paediatric Asthma Quality of Life Questionnaire was observed in those who received personalised care. However, when the researchers looked specifically at the children who had 2 copies of the altered β2 receptor gene, they found a greater benefit, with children experiencing an average 0.42 improvement in their quality of life score. This difference translated into a noticeably better quality of life for the children with 2 altered gene copies (comprising 15% of the total population).

Dr Ruffles pointed out that the modest effect of the personalised care is partly explained by the fact that the children’s asthma was generally very well controlled. Larger trials, with a focus on those with poorer asthma control, are needed to determine the true benefit of personalised care in asthma.


    1. 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. Abstract 4617, ERS International Virtual Congress 2020, 7-9 Sept.

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