Dr Ellen Thomas
Chief Medical Officer, Genomics England
Rare conditions are individually rare, but they are collectively common. This makes overcoming barriers to diagnosis and effective treatment especially vital.
Three and a half million people in the UK live with a rare condition. Many face a long and difficult diagnosis journey, with less than 10% of conditions having a treatment. This presents two priorities. We must first reduce the ‘diagnostic odyssey’ and the average of four to five years taken for an accurate diagnosis. Moreover, treatments must get to patients as quickly as possible.
Early diagnosis through genomic screening
For many with a rare condition, there are early signs that something isn’t quite right. This typically leads to many hospital visits and tests, often with no conclusive answer and frustration for families. Many conditions can be improved, and the effects lessened if it’s caught early.
The Generation Study — a world-leading research study led by Genomics England and the NHS — will investigate the use of whole genome sequencing to screen for more than 200 rare conditions in newborns that can be hard to diagnose and for which NHS treatment is available.
The study aims to identify children with these conditions sooner and provide faster access to treatment. It will also generate evidence to help inform future decisions on whether genomic testing should be offered to all babies at birth and whether it could help to shorten the diagnostic odyssey.
Customising medicines for people with
rare conditions holds enormous promise.
Custom treatment development pathway
Treatments are always being developed. There has been interest in customised drugs based on someone’s genetics. It’s exciting, but there is a long and complex journey ahead to an approved pathway allowing one-off drugs to be designed, made and administered quickly and safely.
A new approach is needed for rare genetic conditions where we will never be able to test the medicines on groups of hundreds or thousands of patients — as you would with a medicine for a common condition. The UK Government recognises this, supporting the Rare Therapies Launch Pad, a new programme that will develop a pathway for children with rare conditions to access individualised therapies.
Tackling medicine customisation challenges
Customising medicines for people with rare conditions holds enormous promise. The technology exists, but we must solve challenges surrounding appropriate regulation, bespoke manufacturing processes and pathways for developing and administering rare medicines before attempting to widely make what was long thought impossible, possible.
