Whole Genome Sequencing: Patient stories - Jessica Wright’s diagnostic odyssey
Channel: Genomics Education Programme
Date: 2016-08-25

In this video we meet Jessica Wright, who underwent years of inconclusive hospital tests before her mother enrolled her on Genomics England’s 100,000 Genomes Project to seek a diagnosis for her rare disease.

Dr Anneke Seller and Professor Maria Bitner-Glindzicz explain how whole genome sequencing is being used to find answers for people like Jessica and her family.

They explain:

- There are over 7,000 rare diseases, many of which are serious or life-threatening.

- In addition to recognised rare genetic diseases, such as cystic fibrosis and Duchenne muscular dystrophy, there are a great number of people with rare diseases that are currently undiagnosed.

- The difficulty with diagnosing many rare diseases is that in order to function normally human beings require thousands of genes working together, and finding which one of these thousands of genes is not working properly can be very difficult.

- Whole genome sequencing offers the potential to simplify diagnosis and prevent years of unnecessary testing for some patients. The advantage of whole genome sequencing is that, instead of having to target particular genes for analysis, specialists can sequence all of an individual’s genes in one go and then work back from there, investigating numerous genes and areas of the genome until they find the cause. 

- The aim of the rare disease arm of the 100,000 Genomes Project is to use whole genome sequencing to find answers for patients and their families with a suspected genetic disease who currently have no diagnosis.

This video shows just how valuable whole genome sequencing can be in attempting to answer specific clinical questions.

If you'd like to learn more about whole genome sequencing, why not sign up to our free, flexible online course here:
https://www.genomicseducation.hee.nhs.uk/courses/whole-genome-sequencing 

More genomics resources are available on our website: https://www.genomicseducation.hee.nhs.uk

TIMESTAMPS
00:00 Opening titles
00:10 The diagnostic odyssey of rare disease
00:57 Jessica's diagnostic odyssey
1:51 Why does child rare disease diagnosis take so long?
2:29 Where does the 100,000 genomes project come in?
2:56 The referral pathway to the 100,000 genomes project