Q. How important is faster diagnosis for rare diseases? What work is currently underway to speed up the diagnosis process for those living with a rare disease?
For many people living with rare diseases, the path to diagnosis is long and complex. It takes on average four years to receive an accurate diagnosis of a rare disease, with some patients waiting far longer. Getting a diagnosis is key to accessing treatments, information and support, so it is really important to find ways to shorten the process.
To help achieve this, the UK Government published the UK Rare Diseases Framework in January this year, setting out a national vision for improving the lives of those living with rare diseases.
Helping patients to get a final diagnosis faster is one of the key priorities of the Framework, and work is underway in each of the four UK nations to develop action plans for how this can be achieved.
At the Department of Health and Social Care (DHSC) we’re working really closely with delivery partners (including NHS England, Genomics England and others) to develop plans to speed up diagnosis, which will include taking advantage of the world-leading NHS Genomic Medicine Service.
Q. What role does newborn screening play in receiving an early diagnosis?
Newborn screening plays an important role in diagnosing rare diseases early, offering opportunities for treatment, management and support, often before symptoms even develop.
This is particularly important because 75% of all rare diseases affect children, and rare diseases account for about a third of infant mortality in the UK.
Q. How is the current UK newborn screening policy being considered under the Rare Diseases Framework?
The topic of newborn screening is actively being considered as action plans are developed for implementing the UK Rare Diseases Framework, and colleagues representing screening policy sit on our Delivery Group.
The UK National Screening Committee (UK NSC) advises Ministers and the NHS in all four UK countries on all aspects of screening. Using research evidence, pilot programmes and economic evaluation, the Committee assesses the evidence for national screening programmes against a set of internationally recognised criteria, taking a range of different factors into account.
In the future, we expect that new, validated genomics approaches and diagnostic tools will contribute to further improvements in diagnosis and screening.
Proposals to screen for new conditions are considered in an annual call for topics which runs between September and December each year.
In the future, we expect that new, validated genomics approaches and diagnostic tools will contribute to further improvements in diagnosis and screening. As we develop the national action plans on rare diseases, we will continue to work closely with our screening colleagues in DHSC to make sure that the needs of the rare disease community are well represented.
Q. What is the role genomic screening can play in expediting the diagnostic odyssey?
Whole genome sequencing could significantly increase the diagnoses of genetic conditions not currently detected by the NHS Newborn Blood Spot Screening Programme. If this can be done where early detection provides the opportunity for an intervention that reduces or avoids harm, or improves long term outcomes, it could deliver benefits to many thousands of children and their families.
Genomics England has recently released the findings of a large-scale dialogue, commissioned with the UK National Screening Committee and with support from the Government’s Sciencewise programme, looking at public attitudes to whole genome sequencing as part of newborn screening. The results of this dialogue will be useful in supporting future decisions on whether genome screening should be used for newborns.
The NHS will be the first national healthcare system in the world to offer whole genome sequencing as part of routine care, with an ambition to sequence 500,000 adults and children with rare inherited diseases and certain cancers by March 2024 (NHS Long Term Plan). This builds on the legacy of the 100,000 Genomes Project (in partnership with Genomics England), which has already delivered significant results for patients. Early indications suggest that at least one in five participants living with a rare disease have received a diagnosis through the Project that they would not previously have received, highlighting the impact that whole genome sequencing can have on rare disease diagnosis.
Whole genome sequencing will now be delivered by the NHS Genomic Medicine Service (GMS) for England and will bring about real change in providing a quicker diagnosis and shortening the diagnostic odyssey.
Charity Perspective – Samantha Barber, Chief Executive – Gene People
Sophisticated diagnosis is part of an increasingly innovative system of health care for those affected by genetic conditions. Each step forward, each improvement to the system – whether in diagnosis, treatment or listening to the individuals impacted by a condition – gives momentum to improving the lives of those living with any rare and genetic condition, and their loved ones.
We welcome the promise of the innovations outlined above and we look forward to the advances they will bring to our community.''
Date of preparation: August 2021
Document No: UK/NP/0013
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Rare Revolution Editor