The following article summarizes important take-away messages from the Westminster Health Forum Policy Conference, which was held on April 28, 2023. The objective of the online meeting was to discuss priorities for rare disease in England, including innovative strategies to help accelerate diagnosis and improve patient outcomes.
The message at this year’s Westminster Health Forum Policy Conference was clear: the UK is reframing rare disease management and genetic medicine services. Baroness Pauline Neville‑Jones and Professor Sir Mark Caulfield seamlessly guided the audience through riveting presentations and panel discussions from researchers, policy makers and patient advocates, exploring intricacies and frameworks to help streamline rare disease diagnosis, care, and treatment in the UK.
Setting the tone for the meeting, Dr. Kath Bainbridge from the Department of Health and Social Care emphasized the government's commitment to addressing health inequalities and improving the lives of patients living with a rare disease across the UK. One of the major unmet needs of patients with rare diseases is the infamous "diagnostic odyssey", a key priority that the UK Rare Disease Framework aims to address. As Dr Bainbridge explained, the Rare Diseases Action Plan 2023 has been backed by extensive public support for the design of whole genome sequencing (WGS) studies in the NHS for newborn screening; the main goal of this early intervention is to reduce diagnosis lead times, which could help transform patient outcomes. The Newborn Genomes Programme was then introduced, becoming the starting point of the day's discussions. We were eager to learn more about this screening program and the potential implications for patients with rare genetic diseases.
It is important to preface this by considering the UK’s legacy in genomics research. The 100,000 Genomes Project, which began in 2013, catapulted genomic medicine services in the UK. Consequently, the NHS was the first national healthcare system to offer WGS in routine care, exemplifying the UK’s position at the forefront of clinical genomics. However, within this innovative landscape, there are glaring inadequacies regarding the management of patients. To highlight this point, Professor Caulfield explained how children with a rare disease enrolled in the 100,000 Genomes Project, attended 68 hospital appointments, and waited for an average of 6 years before receiving a diagnosis at a cost of approximately £15,000, excluding travel and treatment. He considered how the 100,000 Genomes Project was the springboard to evaluating whether early intervention in children with rare genetic diseases was feasible, and whether it could ultimately benefit patients’ lives.
This is how the Newborn Genomes Programme began: a research initiative embedded into NHS services and led by Genomics England that is powered to sequence the genomes of over 100,000 newborns, testing for specific, treatable genetic conditions.
Dr Ellen Thomas, Deputy Chief Medical Officer at Genomics England, summarized the latest developments in the Newborn Genomes Programme. She outlined four key principles around what genes, conditions and variants will be added to the panel by late summer of this year to ensure the safety of processes and technology, as well as appropriate capacity and capability to support families and the NHS:
- Variants that cause the condition (with a confirmatory test available)
- Conditions that are highly penetrant and significantly impact quality of life
- Early pre-symptomatic intervention improves outcomes in children
- The intervention is equitably accessible to all (based on NHS input)
Professor Caulfield highlighted some key implications of the Newborn Genomes Programme, which extend beyond its impact on diagnosis:
- Changing the clinical course of disease
In the UK, approximately 10 children are born with treatable genetic conditions every day. Only 8% of them require expensive treatments, while many only require lifestyle changes (e.g. adopting a specific diet). Ongoing research by Genomics England will test genes in 100,000 children across the NHS to identify conditions for which early treatment is available.
- Potential for recall of patients when new treatments become available
Patients undergoing WGS can consent to longitudinal life-course follow-up and research. This is a potential platform to identify patients with genetic conditions and allowing them access to new therapies when they become available.
- Clinical trial enrollment
One of the challenges to rare disease research is the ability to identify and enroll enough patients. With life-long follow-up, the genomics medicine service is developing a registry of eligible patients for future trials.
- Cost-benefit analysis
Savings of between £360,323 and £1,441,292 are made when a treatable condition is identified early, and the available therapy substantially impacts on mortality or morbidity within the first 5 years of life. In addition, each child receiving a diagnosis can gain between 16.8 and 40.3 quality-adjusted life years.
- Natural history evaluation
Consenting patients can help build a better picture of these rare conditions. Following their natural history will most likely reveal that outcomes are more heterogeneous than previously thought, and potentially help to identify other pathogenic and molecular pathways contributing to disease.
With the implementation of the innovative Newborn Genomes Programme, we may be on the precipice of revolutionizing genomic medicine in the UK. The benefits of this project will be wide-ranging, from diagnosis and care coordination to improving patient outcomes. It is time for the rare disease landscape to follow suit in terms of the progress made in other therapy areas and receive the level of support, awareness, innovation, and treatment access it deserves.
