Whole Genome Sequencing: My Family's Journey
Channel: Genomics Education Programme
Date: 2019-12-17

Whole genome sequencing is a powerful and fairly new type of sequencing that has multiple uses in healthcare. One of the areas where it can really make a difference is for children with no diagnosis; children whose condition is believed to be genomic/genetic but for whom the precise genetic cause hasn’t yet been identified. 

In this film we meet Claudia Beard, whose son Trent has a number of health complications that doctors and scientists have so far been unable to explain. Claudia discusses Trent’s long diagnostic odyssey and describes what it has been like for the whole family to support him and endure years of tests and investigations.

Claudia talks about the family’s referral to the 100,000 Genomes Project, a pioneering project that is using whole genome sequencing to try and find an answer for families like the Beards - https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/.

Though the family is yet to receive a diagnosis, Claudia explains that they remain positive about the future, and outlines the potential value of such projects both for her family and for others in the future.

This film was developed as part of the programme’s free, open-access online course ‘Whole Genome Sequencing: Decoding the Language of Life and Health’ - https://www.futurelearn.com/courses/whole-genome-sequencing  

Health Education England's Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.

For more information visit https://www.genomicseducation.hee.nhs.uk

TIMESTAMPS
0:00 Whole Genome Sequencing: My Family's Journey
0:16 Trent's diagnostic odyssey
1:00 100,000 genomes project referral
1:20 Waiting for answers