PhDs in Focus: Leveraging routinely collected population health data for rare conditions
Welcome to our PhDs in Focus blog series, where our PhD students are showcasing their pioneering research projects at the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC).
In this blog, Manchester BRC PhD student Dr Tom Wright outlines how their PhD project explores the use of routinely collected population-based health data to enhance our understanding of rare conditions and mental health, as part of the Rare Conditions theme.
Rare conditions and the importance of holistic care
I am a resident doctor in Genetic Medicine with a passion for rare conditions, mental health and research.
Although often considered separately, rare conditions and mental health conditions share similarities: they affect millions of people and are traditionally under-researched. A study involving 1,231 individuals with a rare condition found most people (more than 90%) felt anxious, worried, stressed, low, or depressed due to their rare condition, and 36% had experienced suicidal thoughts.
Recognising the importance of coordinated and holistic care, The UK Rare Disease Framework highlighted mental health support as a ‘missing challenge’.
Did you know?
- Rare conditions affect fewer than 1 in 2,000 people.
- Collectively rare conditions affect an estimated 3.5 million people in the UK.
- Around 80% of rare conditions have a genetic origin.
- The natural history of rare conditions (how they may progress and impact an individual over time) is often poorly understood.
- Rare conditions are frequently life-limiting, life-threatening and can impact all aspects of life.
I work closely with the Manchester Rare Conditions Centre (MRCC), a virtual centre based at Manchester University NHS Foundation Trust (MFT). MRCC has partners regionally, nationally and internationally, including the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC), where I am undertaking my PhD. MRCC is a virtual platform dedicated to improving the lives of people with rare conditions. I am committed to this goal through my PhD research and beyond.
My PhD project
During my PhD, I will explore the use of routinely collected population-based health data to enhance our understanding of rare conditions and mental health.
I am interested in a rare genetic condition called Neurofibromatosis type 1 (NF1), which causes nerve tumours and is associated with a wide range of health problems. NF1 will serve as an exemplar rare condition and proof of concept.
Individuals with NF1 often experience difficulties with learning, social interaction, and communication. Studies indicate that autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are commonly diagnosed or suspected among individuals with NF1 following screening tests. Surveys undertaken with people diagnosed with NF1 frequently report symptoms of anxiety, depression, and stress. However, there is a significant research gap describing diagnostic rates and management of mental health conditions among individuals with NF1. With the support, training and expertise available to me through the NIHR Manchester BRC, I am well positioned to address this on a national scale using routinely collected patient data from the NHS.
My core PhD research involves conducting a national NF1 matched cohort study in England. A cohort study follows a group of people over time and assesses health outcomes. For my research, a group of individuals with NF1 will be matched to individuals without NF1, who are the same age, sex, and registered at the same GP practice. My research uses routinely collected, anonymised health data from primary and secondary care (i.e., GP and hospital data) through the Clinical Practice Research Datalink (CPRD). As a research service, CPRD has supported hundreds of public health and clinical studies, by providing anonymised population-level NHS data that can be linked with other national datasets.
Through my PhD research, I aim to uncover new insights into the natural history, mental health outcomes and clinical care of NF1. My goal is to generate evidence to enhance care and support for individuals with this rare condition.
Despite the scale, scope and representativeness of routinely collected NHS health data, it is infrequently used for rare genetic conditions. I recently presented to the British Society for Genetic Medicine (BSGM) about this and am preparing an article for publication. I hope to build on this theme and establish a framework for future research.
Journey to the BRC
I graduated with an MBChB(Hons) in Medicine and Surgery from the University of Liverpool in 2013 and gained Membership of the Royal Colleges of Physicians of the United Kingdom in 2018. I completed foundation and core medical training in Merseyside and South Yorkshire, respectively, and have worked across several medical specialties before commencing higher specialty training in Clinical Genetics in 2020. My academic journey also includes an MSc in Human and Molecular Genetics from the University of Sheffield and Postgraduate Diploma in Clinical Education from the University of Edinburgh.
Before my PhD, I gained research experience by conducting a systematic review (a type of literature review focussed on answering a specific research question) and have contributed to the characterisation of some rare genetic conditions. I also collaborated as part of large team to evaluate clinical outcomes following a genetic diagnosis from the Deciphering Developmental Disorders (DDD) Study. The findings from this evaluation were published in Genetics in Medicine Open.
Another key experience for me was leading a project using next-generation phenotyping and machine learning techniques to analyse facial characteristics of individuals depicted as Father Christmas online. This fun, festive research resulted in a peer-reviewed publication, which I presented at the NIHR Manchester BRC Rare Conditions Theme Christmas seminar. I also had the opportunity to discuss my research with a Scientific Correspondent at The Guardian, who published a news article about it on Christmas Eve 2023.
I am very grateful to the NIHR Manchester BRC and my PhD supervisors. I am also thankful to the Houghton-Dunn Pump Prime Research Fellowship scheme for providing me with six months of protected research time before the PhD. This opportunity allowed me to develop my research skills and explore feasibility. From this, I gained valuable insights into the clinical coding structures used within the NHS, which was instrumental in securing the PhD.