Patient stories: the 'diagnostic odyssey'

In this video we meet Dr Richard Scott, an expert in rare disease at Great Ormond Street Hospital in London, and Claudia Beard, whose son Trent has an undiagnosed rare disease.

We learn that:

• It currently takes an average of five years to diagnose a rare disease.

• Trent Beard was born following a normal pregnancy and birth, but began to develop many health problems. He was missing developmental milestones, he is autistic and has epilepsy. He is also non-verbal and can only eat formula.

• Trent has received several diagnoses throughout his life but they have all been retracted and the cause of his problems remains unknown.

• The impact on families with no diagnosis is great: it is very difficult both for children undergoing numerous tests and for parents who have to watch their child suffer and go through multiple, often traumatic, hospital visits.

• Trent and his family were eventually referred to the 100,000 Genomes Project, which we will learn about in step 1.27 and which uses whole genome sequencing to try and find answers for families like the Beards.

• Whole genome sequencing has an advantage over many traditional tests as it allows scientists and clinicians to look more broadly at the genome, which means it is a good option when areas of the genome suspected to be involved in rare disease have already been explored and nothing has been found.

This video shows the potential for whole genome sequencing in rare disease and the hope offered to families seeking a diagnosis.