Episode
What happens when I go for whole genome sequencing?
- Podcast
- Behind the Genes
- Published
- Dec 11, 2024
- Duration seconds
- 286
- Processing state
not_requested
Actions
POST https://stenobird.com/v1/public/podcasts/behind-the-genes-3509739/episodes/what-happens-when-i-go-for-whole-genome-sequencing/transcription-requests
Idempotently request low-priority transcript generation for this episode.GET https://stenobird.com/podcast/behind-the-genes-3509739/what-happens-when-i-go-for-whole-genome-sequencing.md
Read the agent-friendly Markdown representation of this episode resource.
Summary
In this explainer episode, we’ve asked Katrina Stone, Clinical Genetics Doctor, and Clinical Fellow at Genomics England, to explain what happens when you go for whole genome sequencing for a rare condition. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected]. You can download the transcript or read it below. Florence: What happens when I go for whole genome sequencing? I'm joined by Katrina Stone, Clinical Genetics Doctor, to find out more. So, Katrina, first things first. What is the purpose of whole genome sequencing? Katrina: The purpose of whole genome sequencing is to try to make a precise genetic diagnosis for someone with a suspected or confirmed genetic condition. Florence: And why might someone get whole genome sequencing? Katrina: They might get whole genome sequencing because they are known to have a condition which is likely to be genetic, but the medical team wants to find out what the exact genetic cause is. In other cases, the diagnosis might not be known, and the reason for doing whole genome sequencing is to find out whether there is a genetic condition present. Some of the benefits of having the test is that. If a condition is identified, this can provide an explanation for the family about what's been going on, and it can also bring to an end further unnecessary investigations. Also, if a genetic diagnosis is confirmed, this can sometimes point towards other things which might need to be kept an eye on for the individual. In addition, once a diagnosis is confirmed, a doctor can advise the family on the likelihood of other members of t…