Patient stories: when whole genome sequencing provides answers

In this video you will hear about three specific cases and areas of medicine where whole genome sequencing has helped patients.

Rare Disease

Dr Richard Scott explains that the 100,000 Genomes Project has already taught us a lot about how best to use whole genome sequencing in rare disease. He describes a case where whole genome sequencing provided a diagnosis for the first time for a boy who had undergone years of tests to no avail, providing more certainty for the family and guiding clinicians in how to best treat and manage him.

Cancer

Dr Nirupa Murugaesu talks about a case where whole genome sequencing was able to identify a pan-genomic marker that enabled 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 across the entirety of tumour genomes is offering promise in terms of better treatment and management.

Infectious disease

Lead TB nurse Christine Bell tells us about the advantages of using whole genome sequencing to diagnose and treat Mycobacterium tuberculosis (TB), for which is can provide faster results than more traditional testing methods. WGS can guide more accurate treatment and support Public Health England with linking cases. We will learn more about this in the next step.