Millions of people living with rare genetic conditions in the United Kingdom are being “systematically ignored” by the National Health Service (NHS) and are receiving inadequate care, according to a new report from Genetic Alliance UK.
Rare genetic disorders — including Williams syndrome and Duchenne muscular dystrophy — affect more than 3.5 million people across the UK. Research shows that one in 17 people will live with a rare condition at some point in their lives, underscoring the scale of the issue within the British healthcare system.
The study, conducted by Genetic Alliance UK, surveyed 290 individuals living with rare conditions about their experiences with NHS services. The findings highlight significant delays in diagnosis, gaps in coordinated care, and limited access to approved treatments.
According to the report, one in four patients waited at least three years for a diagnosis, despite actively seeking NHS care. In addition, only one in 10 adults reported having access to a professional care coordinator to help manage appointments, referrals, and follow-up treatment.
The report also identified what it described as an “access lottery” for treatments. Just 5% of rare conditions currently have approved and licensed therapies available, leaving the vast majority of patients without targeted medical options.
Ali Reed’s daughter, Emma, lives with Williams syndrome, a rare genetic disorder affecting roughly one in 18,000 people in the UK. The condition, caused by a chromosomal abnormality, can lead to developmental delays, learning disabilities, and a higher risk of cardiovascular disease.
Reed said healthcare professionals did not initially recognize the signs. Emma was nine months old before concerns were raised about her development, and it took another year before she received a formal diagnosis.
“During our diagnosis journey, what I found strange is that we had three or four healthcare professionals who had met other children with Williams syndrome, but didn’t see it in Emma,” Reed said. “Once you know what Williams syndrome is, it’s not difficult to recognise people with it because they tend to share similar facial characteristics.”
Emma has been under the care of the same pediatrician for 13 years and is now preparing to transition into adult services. Reed expressed concern about the level of expertise available in primary care settings.
“Emma’s paediatrician has been excellent and she’s coordinated everything, but soon Emma will transition to adult services where she’s seen by a GP,” Reed said. “Only one in about 30 GPs have heard of Williams syndrome, so it’s a concern to me that Emma won’t get the level of care she needs.”
Nick Meade, chief executive of Genetic Alliance UK, said the structure of the NHS often disadvantages people with rare and complex conditions.
“In the main, the NHS does an excellent job of looking after us when we need it, but this isn’t true for everyone. In fact, for those of us living in the UK with a rare condition, it can be quite the reverse,” Meade said.
“Our healthcare model is made up of lots of different care pathways. If your symptoms fit neatly into one of these, then great. It means there will be a defined pathway of care for diagnosis and treatment. But these are rigid processes that tend to focus on the most common conditions.”
He added: “They don’t have the flexibility required when dealing with much rarer conditions that are often complex in nature and require expertise from a range of specialisms or services, including those outside of healthcare. It essentially penalises people for having the ‘wrong’ kind of condition and has a serious detrimental effect on the millions of people in our country living with a rare condition.”
An analysis of 163 of the most prevalent rare conditions listed in the European Orphanet database found that only 26% were supported by guidance from the National Institute for Health and Care Excellence (NICE). Among 79 conditions with identified commissioners in England, more than half — 55% — did not have a dedicated specialist service.
Genetic Alliance UK has called for the development and funding of a comprehensive national rare condition registry, as well as increased research investment into rare genetic diseases. The charity argues that systemic reform and improved coordination are essential to ensure equitable care for millions of patients living with rare conditions across the UK.
The report adds to growing concerns about NHS capacity and highlights the urgent need for targeted policy action to address disparities in rare disease diagnosis, treatment access, and long-term care.