Meeting the challenge of rare disease diagnosis

27 February 2015

This week, the Genomics Education Programme of Health Education England has release two new short films about rare diseases aimed at the public and health professionals.

Rare diseases are of course, collectively, not really very rare at all, affecting over three million people in the UK alone. However, individually they may be exceedingly rare indeed and so it is not surprising that so few people, even within the NHS, may know little if anything about such conditions.

The new films were produced in partnership with the Department of health and through collaboration with Rare Disease UK, SWAN UK (Syndromes Without A Name), patients and clinicians. They aim to raise awareness of rare disease in general and the diagnostic process in particular, and have been launched ahead of Rare Disease Day on Saturday 28 February. 

The first film summarises the experience of a family who waited more than seven years for the diagnosis of Batten disease (a rare neurodegenerative disease) to be made for their son – something finally achieved through the Deciphering Developmental Disorders project, in many senses a forerunner of the recent 100,000 Genomes Project that will now be performing whole genome sequencing in the quest for diagnosis for rare disease patients, among others.

The second film explores the 100,000 Genomes Project specifically and provides advice for clinicians on supporting families affected by a rare disease.

In an accompanying blog, Professor Anneke Seller notes that efforts to support people in the rare disease diagnostic process “are showing the enormous potential that genomic technologies have to transform the quality of life for millions of people”.

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