Deborah Richards
Interim General Manager & Head of Commercial, Alexion, AstraZeneca Rare Disease
We all deserve an equal opportunity to live a full life. Yet, people living with rare diseases en-counter significant health inequalities including years of delayed diagnosis, misunderstanding of symptoms and limited access to treatments.
The new Labour Government has said it will focus on tackling health inequalities and factors driving variation in access to NHS services.
Addressing health inequality
Deborah Richards, Interim General Manager and Head of Commercial at Alexion, AstraZeneca Rare Disease, welcomes this. “The UK has an opportunity here, if the new 10-year NHS plan draws on the work of the UK Rare Disease Framework, embedding practical actions to understand and address these drivers of inequality, then people living with rare conditions could routinely get access to the diagnosis and care they urgently need,” she says.
In particular, the road to diagnosis is long and emotionally challenging, taking on average five years and involving consultations with multiple doctors and specialists. “Despite being burdened with symptoms that impact day-to-day life, people with rare diseases can feel unheard and excluded,” says Deborah. This period is often referred to as a ‘diagnostic odyssey.’
Disrupting the diagnostic odyssey
The UK has made progress in expanding the role of genomics in rare diseases to accelerate diagnosis, improve care and drive future research. For Deborah, the opportunity is clear, “We need to build on the success of the 100,000 Genomes Project and creation of the NHS Genomic Medicine Service by embedding testing within clinical pathways. Additionally, the world-leading Generation Study will improve our understanding of the potential benefits of genomics in newborn screening to aid diagnosis and treatment.”
For those 20% of rare diseases, which do not have a known genetic basis, new technology, including AI, provide solutions to rapidly accelerate diagnosis times. Expanding their partnership with digital health company Mendelian on Project FIND, Alexion has focused on creating AI software that scans electronic health records to help doctors identify clusters of rare disease symptoms. “This innovative tool has huge potential to rapidly accelerate time to diagnosis – we are seeing these results in real-time,” says Deborah.
The treatment landscape for rare conditions
remains a challenge to ensure patients
have access to the latest therapies.
Redefining value in rare
The treatment landscape for rare conditions remains a challenge to ensure patients have access to the latest therapies — only 10% of rare diseases have an approved treatment. The level of evidence generated by clinical trials in small populations create complexities when evaluated by the National Institute for Health and Care Excellence (NICE). Deborah notes: “Where treatment options do exist, they often have transformative, even life-saving, benefits for people but current assessment approaches for rare diseases need to evolve to truly capture and recognise the full value of a rare disease therapy.”
Putting patients first
Despite these challenges, Deborah is positive about the future. “There is change, hope and focus from many dedicated people across the UK,” she says. Working with the NHS, a new government committed patient communities and industry partners, we have the building blocks to turn the UK into a country where people with rare diseases truly experience health equity in diagnosis and can access to life-changing therapy and care.”
UK/NP/0166 Date of prep: Sep 2024
