Written evidence submitted by Genetic Alliance UK


bout Genetic Alliance UK

Genetic Alliance UK is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. We advocate for fast and accurate diagnosis, good quality care and access to the best treatments. We actively support progress in research and engage with decision makers and the public about the challenges faced by our community.


Our concerns

We have grave concerns that the new integrated care systems (ICSs) will not achieve its objective to tackle inequalities in outcomes, experience, and access to healthcare services for those living with rare, genetic and undiagnosed conditions.


Individually rare conditions are rare and geographically spread across the country but collectively there are 3.5 million people in the UK affected by a rare condition, which equates to approximately 1 in 17 people. The new structure of the ICSs, based on geographical areas, means that it is likely that there will not be enough patients with a certain rare condition to warrant a service to be delivered within one ICS. For some very rare conditions, there is a national commissioning policy, including highly specialised services which commissions care on a national level; however, there are only approximately 80 clinical commissioning policies compared to a total of over 6,000 distinct rare conditions. Even with some policies covering more than one rare condition, the vast majority of care is not specified by specialised commissioning policies.


NHS England Specialised Service Specifications define the scope of the care that should be delivered to people with rare conditions by NHS England and the ICSs. In practice many rare conditions fall through gaps in these Service Specifications, or the proposed care is extremely brief or non-specific. Many Service Specifications are unchanged since their publication in 2013 (for example, rare mitochondrial disorders service, haemophilia, metabolic services).


We understand that not every rare condition can have a dedicated national specialist centre however, recent data from Orphanet shows that almost 95% of people with rare conditions live with one of the 390 most common rare conditions, out of a total of over 6,000 rare conditions1. For those rare conditions that are inadequately covered by service specifications or do not already have a clinical commissioning policy, it is unclear as to how high quality care will be ensured.


In cases where care is going wrong or being inadequately provided, NHS England have indicated that they will take action. But with a significant increase in complexity of commissioning, with commissioners at arm’s length, it is hard to see how these signals can be detected, and acted upon quickly. 


The new structure of ICSs means that it is not feasible for patient organisations to approach 42 different ICSs to address concerns about the care that their communities are receiving. Many charities and support groups for individuals living with rare conditions are very small, which makes this particularly challenging. Genetic Alliance UK supports over 200 organisations that support individuals and families affected by rare, genetic and undiagnosed conditions. Three out of 10 member organisations have income of £10,000 per year or less. Many of these micro charities or support groups are entirely run by volunteers - often parents of a child with a rare condition - alongside their work and caring responsibilities. Eight out of 10 member organisations have income of £250,000 per year or less and they are run by very small teams of staff focused on raising funds and delivering services to provide hands-on support for their community. The ability of these charities and support groups to engage regionally rather than nationally is very limited.


Potential solutions

There may be scope to allow ICSs to group their geographical areas when supporting groups of individuals living with one of the most common 390 rare conditions (95% of people living with rare conditions fall into this category)1. This would enable a large enough patient population for a specific rare condition or group of similar conditions to be captured and services provided in centres within those grouped ICSs. This will help to future proof the ICS system so that services for rare conditions can be accessed across the UK. For example, there are approximately 15 centres to treat a rare condition called tuberous sclerosis complex (TSC) in England. If there are 42 ICSs it could be that every two or three ICSs group together to provide the service within one of those 15 centres. For rare conditions with a smaller or larger prevalence, a different footprint with one or two specialist centres providing services (smaller prevalence) or one centre per ICS (larger prevalence) may be considered appropriate.


Approximately seven out of 10 rare conditions have a genetic cause1. For the 5% of conditions that do not have large enough populations for a condition-specific service and for those living with an undiagnosed genetic condition, there could be huge potential to develop clinical services for very rare conditions and undiagnosed rare conditions that are co-located alongside NHS England’s clinical genetic services. This could also contribute to achieving the goals set out in NHS England’s newly published strategy Accelerating genomic medicine in the NHS and the government’s Genome UK strategy.


These solutions could lead to much clearer services for people living with rare, genetic and undiagnosed conditions and their families than are delivered through the current NHS system. Although there are challenges associated with the move to ICSs, there is also an opportunity to improve health outcomes and tackle inequalities in experience and access if their needs are considered and plans are put in place to improve services for this community.



Collectively, rare conditions are common affecting 3.5 million people living in the UK.  However, people living with a certain rare condition are often geographically spread across the UK and therefore would face inequity and be disadvantaged in accessing healthcare services within the new ICS structure.


The concerns and potential solutions that we have outlined above have been raised throughout NHSEs engagement activities. However insufficient assurance has been provided to people living with rare, genetic or undiagnosed conditions as to what measures are being considered to prevent disadvantaging this community.



  1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16. PMID: 31527858; PMCID: PMC6974615.


October 2022