Whole Genome Sequencing: Meet the interpretation team
Channel: Genomics Education Programme
Date: 2016-08-25

In this video you will hear from some of the people involved in the process of whole genome sequencing, specifically those who interpret results to provide a meaningful report for clinicians and patients.

You will hear from clinical scientist Samantha Butler, clinical geneticist Maria Bitner-Glinzicz, genetic counsellor Peter Marks and clinical bioinformatician Sirisha Hesketh about their role as part of the interpretation team, and the various points in the process of testing and interpretation, including:

• Supervising samples as they are processed and prepared for whole genome sequencing.

• Developing a patient pipeline: deciding which genes should be analysed and then designing computer algorithms to analyse appropriate areas of the genome in line with the clinical question.

• Interpreting results from whole genome sequencing, including classifying any variants that have been discovered in order to try and determine the risk to the patient and their family. 
 
• Producing a report for the clinician and patient.

• Conveying often complex information to patients in a way that is understandable. 

When thinking about whole genome sequencing, it’s easy to imagine that the machine spits out a report telling clinicians what to do, but this video outlines just how delicate and complex a process interpretation really is. The collaboration between various professionals with different skills is vital.

*Please note, this film was made in 2016. The Genomics Education Programme has since published a series of resources looking in more detail at the professionals involved in genomics: https://www.genomicseducation.hee.nhs.uk/careers/

If you're interested to learn more about whole genome sequencing specifically, why not sign up to our free, flexible online course: https://www.futurelearn.com/courses/whole-genome-sequencing

TIMESTAMPS
0:00 Opening titles
0:10 What does a NHS clinical scientist do?
1:15 What does a NHS clinical geneticist do?
2:13 What does a NHS clinical bioinformatician do? 
3:48 What does a NHS genetic counsellor do?
4:53 Closing titles