The strategy, launched by Health Minister Lord Howe, draws a line between the UK’s outstanding research into the causes and treatment of rare diseases and the potential for a better-informed and more consistent approach to patient care.
Telemedicine is highlighted as a crucial means by which patients and clinical specialists across a range of locations can keep in touch and access expert knowledge.
As the strategy points out, ‘rare’ diseases are not rare as a category: 3.5 million people in the UK suffer from a rare disease, defined as a life-threatening or chronically debilitating disease that affects five people or fewer in 10,000.
Rare diseases demand combined treatment approaches and specialist input, making them a particular challenge for the NHS. Their causes are often genetic, raising the need for specialised biological diagnostics and therapies.
The three main features of the strategy are:
• individual care plans that bring together health and care services
• specialised clinical centres that offer training and education for healthcare providers as well as treatment for patients
• promotion of relevant R&D within the UK.
The strategy emphasises that while health professionals do not need detailed knowledge of every rare condition, “all medical specialties and multi-professional care teams should have a general awareness of rare diseases, so they can make rapid referrals to specialists”.
Patients at risk of a rare disease need to have “clear, easily accessible and effective care pathways” for early diagnosis and intervention, without the need to start again with each new referral.
A crucial part of these care pathways is the early adoption of effective new medicines: “It is important that we have appropriate procedures for evaluating the benefits and costs of treatments as they become available.”
The strategy underlines the two-way relationship between biomedical research and clinical practice, noting that the specialist clinical centres should be “as concerned with research as with social care and support, and develop networks that provide professional to professional dialogue and collaboration”.
The National Institute for Health Research (NIHR) is establishing a Rare Diseases Translational Research Collaboration with £20m funding over four years to boost collaborative research, and is supporting the establishment of a new Centre for Children’s Rare Disease Research at Great Ormond Street Hospital.
According to the Department of Health, the new strategy means that for the first time “patients can have a clear expectation of what the NHS aspires to provide for them, wherever they live in the UK.”