To help patients identify symptoms and find out if they have a known condition, they are more usually offered ‘whole genome sequencing’. In order to find the genome sequencing, a patient’s samples are collected from their blood, saliva and sometimes also tissue for studying. The sequencing allows scientists to identify patterns in the data, which in turn helps to provide not only an accurate diagnosis, but also can help the medical teams provide preventative medicines and even personalised medicines once available.
The diagram below explains the basic principles of Genomics and how it can help patients with their healthcare pathway.
Understanding Genomics : A Series of Podcasts
Genomics England have produced some interesting short podcasts (each <10 minutes) to help explain genomics in rare disease.
The topics cover ‘variants of unknown significance’; explaining the difference between genetics and genomes; explaining what a genome is and explaining whole genome sequencing. More short videos on genomics can be found here, on the Genomics England YouTube channel. (courtesy of Genomics England www.genomicsengland.co.uk):
Genomics England have produced some interesting podcasts to help explain genomics in rare disease. This first podcast talks about ‘variants of unknown significance’ and previous podcasts are included and provided below (courtesy of Genomics England www.genomicsengland.co.uk):
April 2023 – explaining the difference between genetics and genomes
May 2023 – explaining what a genome is
June 2023 – explaining whole genome sequencing
November 2024 – are genetic conditions always inherited from parents
See ‘Getting A Diagnosis’ to find out more about how you can get a diagnosis in UK.
