Joint Interim Chief Executive, Genetic Alliance UK
Diagnosis is the first priority of the new UK Rare Diseases Framework which matches the perspective of people living with rare conditions.
A quick and accurate diagnosis unlocks so many aspects of care and wider support, the positives should be clear to anyone who is familiar with anyone living with a rare condition. The earlier you diagnose someone, the better the clinical outcomes.
A diagnosis can also answer questions as to why someone might be affected by a condition and whether it might happen again, what might be next and how the condition might develop. It provides families with the opportunity to plan and make reproductive choices.
With the UK’s progress in genomics for diagnosis, the NHS Genomic Medicine Service in England and wider progress with Genome UK give a reason to be optimistic for continued progress in the diagnosis of genetic conditions which make up 72% of rare conditions. The UK Rare Diseases Framework’s acknowledgement of non-genetic conditions is an important lever for improvements necessary to ensure progress is made for all.
The advantage of newborn screening is that it shortcuts the diagnosis process and allows treatment to arrest the progression of a rare condition before it affects the child.
Newborn screening lags behind diagnosis
As we heard at a recent meeting of the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions, newborn screening using the heel-prick test is currently only used in the UK to spot nine rare conditions in newborn babies. The advantage of newborn screening is that it shortcuts the diagnosis process and allows treatment to arrest the progression of a rare condition before it affects the child.
The SMA Screening Alliance joined Genetic Alliance UK members Niemann-Pick UK, Batten Disease Family Association, Alex TLC, Max Appeal and ArchAngel MLD Trust to describe the value screening would bring to the families they support.
Many of these screening programmes already exist in other countries. The meeting endorsed recommendations from Georgina Morton of ArchAngel MLD Trust for the screening gatekeeper UK NSC to form a dedicated team to focus on this specialist method of screening. As well as a more streamlined evidence review process and clear timelines to ensure efficiency and accountability. It is crucial that the whole community now supports these clear aims.
With NICE approving gene therapies that are best delivered pre-symptomatically, but no screening programme for these conditions in sight, we urgently need improvement in the UK NSC’s processes. The incoming UK Rare Diseases Framework Action Plans can set out a pathway to make progress on this.