Sean Richardson
VP and General Manager, UK & IRE, Alexion, AstraZeneca Rare Disease
Over half of rare disease patients wait over two years for their diagnosis,1 with half of all patients receiving at least one misdiagnosis.
A rare disease is not just life-changing for patients but also their families and loved ones. For more than 30 years, patients and families affected by rare diseases have been our inspiration and Guiding Star.
Rare disease research
At Alexion, our research includes the translation of the complex biology of the complement system into transformative medicines. We remain committed to helping find new therapies for rare disease patients.
We support the publication of the Government’s UK Rare Disease Framework (January 2021), prioritising increased awareness of rare diseases, use of genomic testing and digital tools to support quicker diagnosis and better patient care. We look forward to the implementation of the national action plan.
For the 3.5 million people living in the UK with a rare condition, the ‘diagnostic odyssey’ of multiple referrals and inconclusive tests remains a reality.
The need for an accurate diagnosis
Raising awareness of rare diseases among healthcare professionals can improve the speed and accuracy of diagnoses. We must ensure they can signpost patients to specialist support and care pathways.
For the 3.5 million people living in the UK with a rare condition, the ‘diagnostic odyssey’ of multiple referrals and inconclusive tests remains a reality. A 2020 survey led by Genetic Alliance UK, supported by Alexion UK, found that patients continue to be dissatisfied with the time to diagnosis. Among those without a definitive diagnosis, 61% had been searching for a diagnosis for over five years.1
Improvements for rare disease patients can only happen if the whole system works together.
A collaborative ecosystem
The increasing use of digital tools and real-world evidence has the potential to improve diagnostic timescales, identify potential groups of patients and help GPs prioritise which patients need further investigation.
Research initiatives like the 100,000 Genomes Project, launched by Genomics England in 2012, have successfully sequenced 100,000 genomes from NHS patients affected by rare diseases or cancer. With more than 80% of rare diseases being genetic,2 the creation of a genetic library to define them led to ground-breaking insights. The first results of the project (published in 2021) found that 25% of participants received a new diagnosis thanks to whole genome sequencing.3
Improvements for rare disease patients can only happen if the whole system works together. We look forward to the rollout of the Rare Disease Action Plan and continue to work with various stakeholders to drive meaningful change for patients.
Date of preparation: September 2022
Document Number: UK/NP/0112
[1] Alexion. Reforming Rare Diseases. December 2020. Available at: https://rareexperience2020.geneticalliance.org.uk/wp-content/uploads/2020/12/Reforming-Rare-Diseases.pdf. Last accessed September 2022.
[2] Genomics England. What We Know About Rare Diseases. Available at: https://www.genomicsengland.co.uk/genomic-medicine/understanding-genomics/rare-disease-genomics. Last accessed September 2022.
[3] 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. N England J Med 2021; 385:1868—1880.
