Blood testsThe Welsh Government has launched a campaign aimed at improving detection, diagnosis, and prevention of rare diseases for all patients and families affected by a rare disease. 

The Wales Rare Disease Plan is the first such plan 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 that asked member states to develop national plans or strategies on rare diseases. 

It is estimated there are more than 6,000 rare diseases affecting more than 3.5 million people in the UK, including an estimated 150,000 people in Wales.

A rare disease is defined as a disease affecting fewer than 5 in 10,000 of the general population and in the UK. About 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 that 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.

Further reading: Better support, treatment and research for patients with rare diseases

The five areas identified to help achieve the aims of the plan are:
- Empowering those affected by rare diseases
- Identifying and preventing rare diseases
- Diagnosis and early intervention
- Coordination of care
- The role of research

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 diseases and the Welsh Government has already funded the purchase of capital equipment to implement the Next Generation Sequencing.