*Please note that this video was produced in 2016 and the uses for whole genome sequencing have evolved and continue to evolve. If you're interested to learn more, why not sign up to our free, flexible online course: [ Ссылка ]

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

Dr Nick Loman explains how whole genome sequencing was used to track down the source of an outbreak of salmonella; Professor Maria Bitner-Glindzicz picks up the story of Jessica Wright, who we met earlier in the course, to tell us about the diagnosis Jessica received thanks to whole genome sequencing as a participant in the 100,000 Genomes Project; and Samantha Butler talks about the use of genetic testing to target cancer treatment and the potential for whole genome sequencing in the field of cancer.

We learn a number of interesting facts.

Infectious disease:

Whole genome sequencing was recently used to investigate and bring to a close a hospital outbreak of salmonella in Birmingham.

Whole genome sequencing gives the whole picture, making it possible to detect even a single mutation in the five million bases that make up the salmonella genome; and this can be enough to determine whether an individual case is part of a larger outbreak or not – in other words, whether individual cases are related to one another.

Whole genome sequencing was used to link later outbreaks across Europe, and to track the source of the outbreak – three chicken farms in Germany which were later closed down.

Rare disease:

There are large numbers of people with undiagnosed rare diseases that clinicians suspect are genetic but where the exact gene or genes responsible are not known.

Whole genome sequencing makes it possible to analyse all of an individual’s genetic material to try and find the cause of a particular condition.

In the case of Jessica Wright, who we met earlier in the film, blood samples were taken from her and her parents, and the results from sequencing enabled scientists to identify one small change in one of Jessica’s genes that was not present in either parent.

Scientists confirmed that the gene that does not function correctly in Jessica is responsible for making a protein that allows glucose to be transported to the brain from the blood, and this faulty gene was identified as the cause of her epilepsy.

Scientists and doctors know that this type of epilepsy can be controlled by changing to a ketogenic diet, which uses ketones as an alternative source of energy; thus, Jessica was able to switch to the ketogenic diet and her medication was scaled down.

Cancer:

Whole genome sequencing is being used more in the area of research than in diagnostics in cancer; this is because, currently, targeted panel screening can achieve the same results as whole genome sequencing, and it is cheaper and faster.

It is hoped that whole genome sequencing will enable scientists to identify more genes that are associated with cancer so that these can be added to the panels of genes that are currently tested.

In some cancer cases, the results from genetic testing enable scientists to make decisions regarding treatment and management that will benefit individual patients.

As an example of a case where genetic testing guides treatment, Samantha Butler discusses a panel test for lung cancer, where, if a variation in the EGFR gene is detected, clinicians can offer specific EGFR inhibitor therapies that are known to be beneficial for particular patients.

Research from whole genome sequencing, as well as identifying new genes associated with cancer, could also mean that scientists are able to develop more targeted treatments and therapies.

Here you can see that while there is still progress to be made in our understanding of the genome, patients and clinicians are already seeing real benefits from the advances in technology and science that have been made.

For more educational resources covering genomics, check out our website: [ Ссылка ]

TIMECODES
0:00 Whole Genome Sequencing: Patient stories
0:11 WGS to find an outbreak's source
1:24 WGS to modify a treatment plan
3:09 WGS as a tool in oncology

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