People with rare genetic conditions are ‘systematically ignored’ by NHS, report finds | NHS
Millions of people living with rare genetic conditions across the UK are being “systematically ignored” by the NHS and facing inadequate care, according to a report.
Rare genetic conditions such as Williams syndrome and Duchenne muscular dystrophy affect more than 3.5 million people in the UK. One in 17 people will be affected by a rare condition at some point in their lives.
The research, published by the charity Genetic Alliance UK, surveyed 290 people living with a rare condition about their experiences of the healthcare system.
The survey found one in four people had to wait at least three years for a diagnosis despite actively seeking NHS care, but only one in 10 adults had a professional care coordinator to help manage appointments and follow-ups.
The report also identified an “access lottery” for treatments; This means that only 5% of rare conditions have approved and licensed treatment available.
Ali Reed’s daughter Emma has Williams syndrome, which affects around 1 in 18,000 people in the UK. Caused by a problem with chromosomes, this condition can cause developmental delays, mild to moderate learning disabilities, and an increased risk of cardiovascular disease in children.
Reed said healthcare professionals only questioned Emma’s development when she was nine months old, and it took another year for her to be diagnosed.
“It seemed odd to me that during our diagnostic journey, we had three or four healthcare professionals who had met other children with Williams syndrome but did not see it in Emma,” Reed said. “Once you know what Williams syndrome is, it is not difficult to recognize people with this syndrome as they tend to share similar facial features.”
Emma, who has been under the care of the same pediatrician for 13 years, is now preparing to transition to adult care. Reed is concerned about the quality of care her daughter will receive.
“Emma’s pediatrician was excellent and coordinated everything, but Emma will soon be moving to adult services where she will be seen by a general practitioner,” Reed said. “Only one in approximately 30 GPs has ever heard of Williams syndrome, so it is concerning to me that Emma is not getting the level of care she needs.”
Nick Meade, chief executive of Genetic Alliance UK, said the NHS may be ill-equipped to provide care for people living with rare genetic conditions.
“The NHS actually does an excellent job of looking after us when we need it, but that’s not the case for everyone. In fact, for those of us living with a rare condition in the UK, the opposite may be the case,” Meade said. “Our healthcare model consists of many different care pathways. If your symptoms fit neatly into one of them, great. This means there will be a defined care pathway for diagnosis and treatment. But these are rigid processes that tend to focus on the most common conditions.”
He added: “They lack the flexibility needed when dealing with rarer conditions, which are often complex in nature and require expertise across a range of specialties or services, including those outside healthcare. This essentially penalizes people for having the ‘wrong’ type of condition and has a seriously detrimental impact on the millions of people living with a rare condition in our country.”
Analysis of the 163 most common rare conditions in the European Orphanet database found that only a quarter (26%) were supported by National Institute for Health and Care Excellence guidance. And in 79 of those circumstances where a commissioner could be found for England, more than half (55%) had no specific service.
The charity has suggested that a comprehensive UK-wide rare condition registry should be funded and developed, alongside further investment in research into rare genetic conditions.
