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Skip to 0 minutes and 12 secondsThere are at least 7000 rare diseases and many of these are life-threatening or serious conditions and many of them affect children. Some of the examples that people are familiar with are cystic fibrosis and Duchenne muscular dystrophy but mostly these diseases are really hard to diagnose. And so patients go on a very long diagnostic odyssey where they see many specialists they have lots of tests and still in many cases they don't have an answer as to why their child has a particular condition. So what genome sequencing offers is the potential to make the diagnostic odyssey much more straightforward and simpler for these families and to provide a genetic diagnosis far earlier on in the patient pathway.

Skip to 0 minutes and 58 secondsI first met Jessica and her family towards the end of 2013 and the story from her parents was that she was born following a normal pregnancy and normal delivery but after the first few months of life it became apparent that she wasn't really meeting her normal developmental milestones. And from just after the age of one Jessica started to have fits which were obviously of great concern. She was then referred to specialists for investigation of her problems and underwent a lot of tests over the next few years. Those would have included blood tests x-rays scans and a lumbar puncture. But, in spite of all of these tests, there still wasn't a definite diagnosis for Jessica, other than developmental delay and epilepsy.

Skip to 1 minute and 54 secondsThe difficulty in trying to make a diagnosis in children such as Jessica

Skip to 2 minutes and 0 secondsis that the combination of problems are really not uncommon and rather undistinctive: developmental delay and epilepsy. As you can imagine, in order to function normally, the brain needs thousands of genes all working together, all working correctly, in order for development to be age appropriate. We just don't know, in a child with developmental delay, which of those thousands of genes might not be working properly.

Skip to 2 minutes and 30 secondsSo the aim of the 100,000 Genomes Project, particularly from the point of view of rare diseases is, instead of trying to guess which one of the genes might not be working, is to say, well, we don't know which gene is responsible here so we're just going to analyse all of an individual's genetic material in order to find out what is different about that person compared to other people without those problems.

Skip to 2 minutes and 57 secondsJessica's mother heard about the 100,000 Genomes Project through Syndromes Without A Name and the charity Unique who were asking for volunteers and suitable participants to undergo whole genome sequencing so Mrs Wright thought why not give it a go because we still don't have a diagnosis even after all this time.

Patient story: Jessica's 'diagnostic odyssey'

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 explore how whole genome sequencing is being used to find answers for people like Jessica and her family.

They explain that:

  • 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.

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This video is from the free online course:

Whole Genome Sequencing: Decoding the Language of Life and Health

Health Education England

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