One in 17 people will be affected by a rare medical condition during their lifetime, but such conditions are too often neglected by the NHS, according to a new report.
This neglect leads to reduced quality of life for affected individuals and increased costs for the NHS, the benefits system, employers and patients, says the report, which has been produced by the 2020Health policy think tank, based on the findings of a recent roundtable which brought together health policymakers, GPs, politicians and senior academics.
The study criticises those health professionals whose “overwhelming focus is on treating a handful of major illnesses rather than developing systems for diagnosing and treating the increasing number of rarer diseases.” As a result, it says, thousands of people suffer for years with misdiagnosis and inadequate treatment. Wrong or late diagnosis also wastes vital NHS funds, and costs considerably more than early diagnosis, requiring expensive and invasive medical treatment.
There are already more than 5,000 diseases and around five new ones are listed in medical journals each week. 80% of rare conditions have a genetic component, which strongly indicates that more funds are needed in this area to diagnose correctly, says 2020Health.
But at present, the UK offers screening for only five childhood diseases at birth, compared with over 30 in the US and 20 in many European countries, the roundtable heard.
The report makes a number of recommendations for improvements, including training medical students to think broadly about ranges of possible diagnoses. There also need to be clear pathways to expertise in rare and forgotten conditions, with the development of shared care pathways, clinical guidance and centrally collated evidence, and recognition from the National Institute for Health and Clinical Excellence (NICE) that small cohorts of patients should not preclude them from new treatments.
The use of technology to help narrow down to a range of possible diagnoses is also recommended, with the development of smart systems that can tell GPs which tests and local specialised services are available to reach a conclusion.
Moreover, patients need to be engaged in self-diagnosis and self-care, with the GP acting as a “well-informed facilitator,” along with government support for the self-care agenda, adds the report, which also emphasises that the commissioning guidance for Clinical Commissioning Groups (CCGs) developed by the NHS Commissioning Board must be clear on how CCGs can incorporate provision for those with rare diseases into their planning.
“A lot of people are being let down by the NHS despite the fact that we have the technology and expertise to improve diagnosing illness,” commented 2020Health chief executive Julia Manning.
“There is still too much variation in care across the NHS, too little information on rare diseases and not enough done to empower patients to look after themselves. A paternalistic approach by the NHS is unsustainable and unhealthy, and this needs to be considered alongside greater awareness of rare diseases in medical training,” she added.
– The Department of Health is due to publish the findings of its consultation on the UK Plan for Rare Diseases by the end of 2013.
