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The first large-scale comparison of genotype-based personalised care for asthma affected children

New treatments for severely affected children have proved to be life changing for individual patients. One patient has declared that having faced multiple ineffective courses of treatment, the research-led decision to prescribe montelukast based on his individual genotype, caused his severe breathlessness to disappear virtually overnight. Similarly, this has caused other children undergoing the new treatment regime to eradicate problems faced with every day activities including climbing stairs and playing sports. The research findings led directly to the first large-scale comparison of genotype-based personalised care with standard care in asthma anywhere in the world. This was the first time that grant funding of this scale was awarded to a precision medicine randomised controlled trial in the field of children’s asthma.

In the 2015 version of the Asthma Australia Handbook, the national asthma guideline for health professionals in Australia, Somnath Mukhopadhyay’s research is one of the key pieces of research evidence cited as part of the recommended stepwise approach to asthma management in children, warning clinicians about an adverse gene-medication interaction that may have contributed to multiple asthma-related deaths in children in New South Wales between 2004 and 2013. As part of this approach, the guideline specifically states that response to treatment partly depends on genetics, referencing the team’s finding that due to the child’s genotype, only a proportion of children will respond to individual asthma treatment, the first example of genotype-based advice in any national guideline for asthma. 

Improving paediatric personalised medicine clinics with the Royal Alexandra Children's Hospital

New paediatric personalised medicine clinics, in operation from 2016, and supported by the NHS and Rockinghorse, a Sussex-based charity, constitute a unique development at the Royal Alexandra Children’s Hospital in Brighton. These clinics have treated over 60 children with severe asthma, eczema and allergies, through repeat visits. The clinics draw on the deeper scientific understanding of the uniqueness of each child regarding allergy-related diseases, and clinical problems that affect children according to their individual genetic traits and environmental exposures. Previously, dermatology clinics had been run on the basis that allergy, asthma and eczema required separate management strategies. A leading paediatric dermatologist attributes the shift in clinical practice at the Royal Alexandra to the research undertaken by Somnath Mukhopadhyay’s team.  

This shift directly influences practice by placing greater emphasis on allergy testing and the use of emollients from a very early age in children with eczema and related conditions. As a result, children under the age of six months presenting with eczema are treated more proactively, as the research showed that infants with these skin barrier defects develop more severe atopic disease. These clinics focus more on understanding the role of external allergens, performing skin prick testing for allergies in the dermatology outpatient clinic to help with diagnosis of selected allergies that may be adding to the severity of eczema. Significantly, organising care through clinics where dieticians, dermatologists and asthma specialists devise a care plan in collaboration with the child’s parents, has dramatically improved patient experience.

A patient-centred approach to the treatment of allergy-related diseases

NHS consultants and trainees have reported improvements in care and wellbeing as a result of this innovative approach. The carers interviewed in a 2019 survey reported 100 per cent satisfaction following treatment due to their changed care plan, their involvement in treatment decisions and the collaborative approach of their clinicians.  

The research has increased awareness of the benefits of a patient-centred approach to the treatment of allergy-related diseases to both healthcare professionals and the public. To extend the clinical impact the research team disseminated their key research findings across a series of events in 2015-2016. This included study days for 43 trainee GPs in Sussex, 44 attendees of the National Medical Students Paediatric Conference and presentations to 48 child health professionals in India through links with the Indian Academy of Paediatrics. Feedback from these events indicates that over 92 per cent of the professional audience had better awareness of how a poor response to asthma medicine could result from genetic variation in patients. 

Following the dissemination events, the team tailored their findings to a health professional audience and disseminated them via presentations and commentary pieces in key UK health channels: Royal College of General Practitioners, websites for the journals Pulse and Nursing in Practice. To build on this impact, the Royal College of General Practitioners has made this material available through its website and the research into genetic predisposition and its implications for patient care has been incorporated into their Continuing Professional Development. The research underpins key guidance in the Royal College of General Practitioners' e-learning module on allergy, developed in partnership with Thermo Fisher Scientific. This course is designed to educate GPs about the various presentations of allergic disease, how to assess an atopic patient and when to investigate in primary care or refer to secondary care and has been completed by over 5,000 healthcare practitioners across the UK since its launch.

In collaboration with the arts group Same Sky, the team organised and presented their work at a public participation event (May 2016) as part of the Brighton Fringe Festival. The views of the public, captured on video, indicate an increased understanding of a personalised approach to treatment and an interest in participating in the debate around this subject. Similar results were seen at the New Scientist Science Festival, London (2018) where members of the public visiting the ‘Personalised Medicine’ stand reported a substantial increase in their understanding of how genes affect the way we respond to medicines and how genes affect diseases. The research findings were also presented to two primary schools in rural Portugal and three schools in rural and urban West Bengal, India, increasing awareness among teaching staff and children of the potential benefits of personalised medicine.