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Collectively, rare diseases are not rare
Recently, the Welsh Government launched its Wales Rare Disease Plan, which aims to ensure the efficient use of expertise and the targeted use of health care resource to improve detection, diagnosis, and prevention of rare diseases as well maximise the benefits for all patients and families affected by a rare disease.
This is the first such plan for Wales and certainly one of the first plans to be published in the countries of the UK setting out a detailed set of actions on rare diseases. An all-UK strategy was published last year, following the European Council’s recommendation which asked Member States to develop national plans or strategies on rare diseases.
The five areas identified to help achieve the aims of the plan are:
- Empowering those affected by rare disease
- Identifying and preventing rare diseases
- Diagnosis and early intervention
- Coordination of care
- The role of research
A rare disease is defined as a disease affecting fewer than 5 in 10,000 of the general population and in the UK approximately 1 in 17 people will be affected by a rare disease in the course of their lives.
The launch was held on Rare Disease Day, a European initiative, which highlights the many different facets of rare disease care, the issues affecting people with rare diseases and to coordinate policy actions for rare diseases at each level.
The All Wales Medical Genetics Service, made up of clinical and laboratory services, provides clinical and genetic testing service for patients across Wales and also plays a central role in counselling of immediate family and relatives following the identification of rare inherited diseases.
In Wales, the conditions currently screened for are congenital hypothyroidism (CHT), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), phenylketonuria (PKU) and sickle cell disorders (SCD).
Genetic testing is a major development area in diagnosing and treating rare disease and the Welsh Government has already funded the purchase of capital equipment to implement the Next Generation Sequencing.
Welsh Government Health Minister, Mark Drakeford, said:
“By their very nature rare diseases offer specific challenges to the NHS. There are many such diseases and in any given area there may be very few people affected by any one disease.
“To achieve the best results we need to support the families concerned by engaging and co-ordinating the contribution of primary care, available everywhere, and various specialised services, which may operate only at regional, national or even international level.
“Accordingly, this draft Implementation Plan has been prepared by a Task Group which has brought together the NHS in Wales, the Welsh Government, the third sector and the research community and close links have been maintained with government officials and other interests across the United Kingdom.
“Because of the complexity of the issues surrounding rare diseases and the fast changing science that will help determine how cases are managed, the four Ministers have agreed to the establishment of a United Kingdom Group Rare Diseases Advisory Group which will maintain a continuing overview of the wider issues relating to the management of this agenda across the four countries.
“Within Wales I am establishing an Implementation Group to oversee the implementation process and keep the plan fresh and relevant and liaise with the NHS and other interests, taking advantage of developments in Wales and elsewhere in the United Kingdom.”
Dr Chris Jones the Deputy Chief Medical Officer for Wales added:
“I am delighted that rare diseases care in Wales now has a plan on an equal footing to those for cancer and cardiac disease. Patients with these conditions can suffer greatly and we are determined to provide the best care we can for them. I expect this plan to make a real difference”