Skip to 0 minutes and 0 secondsWhat excites me most about whole genome sequencing is we have a real opportunity to diagnose genetic causes of diseases that we haven’t previously known. So at the moment we’re focusing on the diseases where the diagnostic yield is most improved by whole genome sequencing, but as the ease and the price of whole genome sequencing decreases it becomes possible to use this technology with all its benefits in a broader range of situations. One of the things I’m excited about is bringing the mobile lab into the hospital. Processing samples in a very rapid turnaround way which will mean that they can receive better treatment more early. That could result in better care, shorter stays in hospital and better outcomes.

Skip to 0 minutes and 47 secondsSo if you can imagine a patient comes into the hospital if we’ve done some research to then say actually over a period of years we’ve found that if we do whole genome sequencing to profile this particular respiratory sample, for example, and we find that there is common bugs that are associated with a respiratory infection. You can then say well OK then let’s develop a near patient test that’s quite quick that just focusses on those particular bugs so when a patient comes into A&E we might then say in the respiratory season in winter time actually lets do this very quick, very cheap test to identify just these particular pathogens and so therefore we can then manage the patient far quicker.

Skip to 1 minute and 24 secondsI do foresee that we’ll have a routine service providing whole genome sequences. Whole genome sequencing is a once in a lifetime test and it has multiple different utilities. You can apply that information throughout a patient’s lifetime for whichever drugs they may then need to be prescribed. When you sequence you can gain information not just about common genetic variants but also all of the rare genetic variation within the genes relevant for drug response. And through research we’ll then be able to apply our increasing and growing knowledge about this rare genetic variation to help our patients.

Skip to 2 minutes and 3 secondsOne of the really exciting things for the future and one of our challenges is going to be how we inform all of the people who work in that healthcare setting about how to communicate this to patients and to provide them with the toolkit to do that. For families with rare disease for example having a diagnosis or an understanding of disease progression is really the thing that makes the difference for their family experience, but actually communicating that is a challenging thing to do because we’re going from the whole genome into very precise information tailored to that particular individual or that family. So this is everybody’s business and everyone will understand over time how exciting this is.

Skip to 2 minutes and 38 secondsWe’ve got great potential not just in diagnosis of disease, but in prediction and prevention and more targeted treatments.

What will the future look like?

In this video our experts consider how things might look in the future - and you can read more about future possibilities at the links at the bottom of this page.

  • Professor Sue Hill explains that whole genome sequencing is exciting as it brings an opportunity to diagnose genetic causes of diseases that we haven’t had before.

  • Dr Richard Scott highlights that the uses for whole genome sequencing are set to expand as we learn more and the cost reduces.

  • Dr Josh Quick and Dr Matthew Diggle talk about the prospect of learning more through research and developing point of care, bedside tests which could reduce the time to diagnosis and correct treatment.

  • Dr Richard Turner envisages routine whole genome sequencing, the data from which will be used in prescribing throughout a patient’s lifetime. He also talks about learning more about rare variation in order to develop new tests and new drugs.

  • Dr Helen Parkinson highlights the challenge posed by whole genome sequencing data and the need to develop education to inform the healthcare workforce and ensure everyone dealing with genomic data is confident and capable.

  • Professor Sue Hill concludes by saying that genomics is ‘everybody’s business’ and an exciting development in a move towards prediction and prevention as well as targeted treatments.

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Whole Genome Sequencing: Decoding the Language of Life and Health

Health Education England

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