Whole Genome Sequencing: Finding Answers for Patients
Channel: Genomics Education Programme
Date: 2019-08-01

Whole genome sequencing (WGS) is a relatively new type of test that enables us to obtain a sequence of the entire genetic code – all of the DNA – of a person or organism.  

WGS isn’t always necessary or useful, but it has particular uses - and as the cost of this kind of sequencing has come down and the speed with which results can be obtained has increased, it has become increasingly applicable in the clinic.  

In this video, we hear from three experts from across the fields of rare disease, cancer and infectious disease about uses for whole genome sequencing in their areas. Using examples from their clinical practice, they give an insight into the particular benefits of whole genome sequencing. 

Rare Disease 
Dr Richard Scott describes a case where WGS provided a diagnosis for the first time for a boy who had undergone years of tests to no avail. Dr Scott explains that the benefit of WGS in this case is being able to work backwards from the whole DNA sequence when more targeted tests have not produced a result. He talks about the benefits to the family of having a more certain diagnosis, and explains how such a diagnosis helps clinicians to treat and manage the family better.  

Cancer 
Dr Nirupa Murugaesu talks about a case where WGS identified a pan-genomic marker that allowed a patient who had already progressed through standard treatment to take part in a new immunotherapy trial. She also explains that the ability to look at the whole tumour genome quickly and affordably will translate to better outcomes for patients. 

Infectious disease 
Lead TB nurse Christine Bell tells us about the advantages of using WGS to diagnose and treat Mycobacterium tuberculosis (TB), for which it can provide faster results than more traditional testing methods. WGS can also guide more accurate treatment as well as supporting Public Health England (please note this organisation has now been replaced by the UK Health Security Agency) in linking cases, which can be helpful in tracking and preventing the spread of infectious disease.  

Learn more 
If you’d like to learn more about whole genome sequencing, why not enrol on our free online course which runs twice a year? 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 one of the many educational resources from the programme. For more information visit the programme website: https://www.genomicseducation.hee.nhs.uk.