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Patient stories: when whole genome sequencing provides answers

In this video you will hear about three specific cases from cancer, rare disease and TB where whole genome sequencing has helped patients.
The 100,000 Genomes Project taught us a number of things about how to use whole genome sequencing in rare disease. One family that springs to mind is one I saw myself who had been seen for many years by a large number of specialties. The boy was 10 by the time he was recruited to have whole genome sequencing carried out, and had had quite a large number of genetic tests and suggested genetic diagnoses. Through whole genome sequencing a specific diagnosis was made of a very rare condition that affects the way the body can repair DNA. The difference for him is simply that he has a diagnosis now where the previous testing that he’d had had failed to identify one.
That’s meant more certainty for the family and also more certainty and really useful specific advice about how he should be followed up from a medical point of view. When considering the use of whole genome sequencing in cancer, if I could possibly draw upon an example of a patient that we were treating. Unfortunately they presented with very advanced disease and had progressed through standard lines of therapy and what the whole genome analysis provided us was an indication of a pan-genomic marker that may indicate potential eligibility for new immune therapy trails and then this patient was in fact recruited into a trial.
The hope is that going forwards the more that we can capture with a single test and a single platform that that will then translate to benefit for patients. I’ve always been interested in TB as a disease. It’s something that is completely curable, and yet it seems to be a problem. TB can affect any part of the body and depending on where is affected the symptoms will vary. Once we have collected a specimen from the patient we send it to our laboratory and they try to culture a Mycobacterial species. Then they forward that to Public Health England for whole genome sequencing. Whole genome sequencing tells us a number of things about the organism.
Firstly it can tell us if the organism we’re dealing with is in fact TB. It will tell us what the sensitivities of the organism are, and so which antibiotics work. And then it also gives us information about linked cases. The advantage of carrying out whole genome sequencing would be that we can find out sooner if the person has resistance to one or more of the antibiotics and that allows us to give the correct treatment sooner.

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.


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.

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Whole Genome Sequencing: Decoding the Language of Life and Health

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