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Brighton & Sussex Medical School

Paediatrics

Paediatrics

Our internationally recognised research into childhood asthma has brought significant progress within a short space of time from the exploration of new mechanisms in children's asthma to benefit for patients.

Professor Mukhopadhyay’s recent study has confirmed his previous findings that common asthma reliever drugs taken by millions of children around the world may increase the risk of asthma attacks in some patients with a particular genetic make-up. He found that salbutamol, a popular blue inhaler medicine, as well as salmeterol, a long-acting version also in common use, are less effective in children with a specific gene variant and may in some cases make their asthma worse.

The research team has also discovered several new pathways contributing to poor asthma control in children. This work has sparked off research into a better understanding of the underlying functional defects and the development of new interventions. For example, the discovery of the link between filaggrin gene defects and childhood atopy and asthma has led to much work on understanding how asthma and allergy develops and the search for novel therapies.

The paediatric research team is based at the Royal Alexandra Children's Hospital in Brighton.

A child and his mother attending an asthma consultation. The Dr listens and takes notes.

Blog update

Patients and carers views must be involved in the rollout of precision medicine

December 2020

The sequencing of the human genome has begun to enhance our understanding of the biological mechanisms underlying chronic diseases, for example asthma. The twentieth century model of asthma management is often that of a generic disease with grades of severity, treated by adding layer on layer of medicine. However, the discoveries that follow from the description of the human genome are influencing our thinking. They are enriching the established milieu with additional information about new individual pathways, urging us to move “from mostly one-size-fits-all treatment to genuinely personalized care.” [1] We may soon have the power to decide whether or not we can let this novel information fine-tune the management of chronic diseases in wider populations.

Or will we? We are only empowered by information when we understand and realise it. Currently, there exists a gap between the information about genomics and chronic diseases that researchers know and share through articles in specialist journals, and the understanding of this information among patients and carers, the public, and many healthcare professionals. Unless this gap closes, doctors, nurses, patients and the public cannot make the right decisions about future patient care, and a small body of experts, with or without links to industry, may remain in the driving seat through sheer knowledge power, and this might not work in the best interests of the patients. 

A recent systematic review of 21 studies demonstrates an overall interest in 9000 members of the public, including patients, almost exclusively from North America and Europe, to engage in a wider discussion on personalised medicine. [2] However, other than one study from Singapore, we could identify no evidence of a systematic exploration of the public’s views on personalised medicine from Africa, South America and Asia, where over half the world’s populations live, and where personalised medicine-related treatment approaches will inevitably influence the management of common diseases over the next decade.

Historically, doctors may not have been efficient at seeking patient’s views about new treatment choices, but views are shifting in the North, and we were pleased to note the breadth of studies seeking the views of the public regarding personalised medicine. Many of us in the developed world are actively seeking patient feedback regarding our day-to-day performance, while researchers are exploring opportunities for public engagement to discuss future medicine and inviting public involvement to strengthen clinical trial design. 

How much of this is happening outside the developed world? The treatment choices are creeping in, often at different rates, depending on ability to pay. From the patient’s point of view, there is arguably an even greater need to think about cost versus benefit. Our exploratory discussions last year with rural and urban populations in India revealed one clear message: people, particularly the young, are keen to engage in this process, but there is very little scope for discussion. Young women employed in rice fields spared their valuable morning time learning how a skin barrier defect might worsen their child’s asthma or eczema and joined in the discussion on how this could be prevented through the use of emollients that are available in the local market. [3,4] Speaking in the local language (Bengali) and translating from English as necessary, we used models and pictures, communicating allergy advice. As doctors and researchers, we learnt that there are fewer cultural, educational and economic barriers to worldwide public participation in discussing the pros and cons of medical treatments than we currently perceive. 

We know that the price of ignoring the views of patients and carers is high. We run the risk of mis-diagnosis, overdiagnosis and overtreatment, or in ignoring the public’s views when developing research programmes. In Europe, a clear and articulate patient voice is guiding the development of these interventions. There are, however, major healthcare and societal costs if patients and carers are not involved worldwide in the roll out of personalised medicine over the forthcoming years. 

Somnath Mukhopadhyay is Chair of Paediatrics at the Royal Alexandra Children’s Hospital and the Brighton and Sussex Medical School, UK. He is a consultant in children’s respiratory diseases and allergy. 

Katy Fidler is Clinical Senior Lecturer in Paediatrics at the Royal Alexandra Children’s Hospital and Brighton and Sussex Medical School, UK. She is a consultant in children’s infectious diseases.

Ciara Holden is a clinical academic fellow and specialist registrar in paediatrics at the Royal Alexandra Children’s Hospital in Brighton, UK. 

Christina Jones is a senior lecturer in Clinical Psychology at the University of Surrey, UK. 

This post is part of a BMJ Opinion article. To read this article in full, visit the page below.

Read the BMJ Opinion article here >

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