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This content is taken from the Health Education England's online course, Whole Genome Sequencing: Decoding the Language of Life and Health. Join the course to learn more.

Skip to 0 minutes and 0 seconds Bioinformatics is a discipline which is using various techniques and technologies to try and understand what the genome can tell us. It’s a job role where we use computer programmes and we create our own computer programmes in order to analyse people’s DNA sequences and other genetic information. We work with counsellors and clinicians and other scientists in order to get the most accurate and reliable results for the patients.

Skip to 0 minutes and 28 seconds The bioinformaticians role comes in at the point where the patient’s data is analysed but before that the patient will obviously have met with their clinician, their doctor who will refer them for a particular test and then blood will be taken and that blood is sent to our laboratory for extraction and to be put on a sequencing machine of some description. And so the point that the bioinformatician is involved is when that sequencing machine has finished its run and a set of data files are produced for that patient.

Skip to 0 minutes and 55 seconds The bioinformatics process is absolutely crucial because there’s no way that anyone can look at that sea of data and make sense of it in a way that would be resulting in anything that was clinically actionable. We’re little bit like librarians if that’s the best way to describe it. We take this large pieces of information and what we do is to categorise it, we index it and allow it to be accessible for those who actually need it.

Skip to 1 minute and 18 seconds Although we sit well behind the front lines we are part of the patient care pathway and it’s important that as that as bioinformaticians it is our duty and our responsibility to actually ensure that we are delivering the right tools for the actual diagnosis of the patient. What we’re looking for in a good bioinformatician is somebody who is just inquisitive, is excited about science, is a really good communicator and wants to use those skills to help patients. So you can start off by being a biologist and you become interested in computers, you retrain to learn how to apply computer programming to biology.

Skip to 1 minute and 57 seconds And another route in is if you’re a computer scientist and then you start to see some of the questions posed by biology and you can see that computers can really start to answer some of those questions. A lot of scientists think that maybe all we do is write code and I think that we’re so much more than that. We understand the data, we know what to do with it, and how to analyse it and how to get the best out of it and the best results for the patients. You need to have persistence because you need to quality check and validate everything to make sure it’s of a clinical standard.

Skip to 2 minutes and 24 seconds You need to be very good at communication because we need to work with a huge multidisciplinary team and that means explaining things on a high level to other bioinformaticians but also being able to accurately tell someone how you’ve got those results when they don’t know about bioinformatics. This is an area that’s growing very very fast. We’re going to be using it in rare diseases, we’re using it in cancer, we’re going to be using it in areas of infectious disease and infectious disease control. All the time we’re finding new things about how changes in the genome impact on health. If we’re going to make full use of that information we need bioinformaticians to help interpret and make sense of that data.

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Meet the Clinical Bioinformaticians

In this video we meet Clinical Bioinformaticians. While they do not see patients clinical bioinformaticians are an essential part of the interpretation team.

Clinical bioinformaticians work to make genome data clinically actionable; to make sense of large amounts of data so that other healthcare professionals can use it to inform decisions about diagnosis, treatment and care. They straddle the worlds of biology and computer programming to provide a vital link in the patient pathway. They are collaborators and communicators, working with a large multi-disciplinary team and applying different techniques when considering each patient.

Professor Andy Brass, Dr Sirisha Hesketh, Sanjeev Bhaskar, Dr Anthony Underwood and Eileen Gallagher showcase what the work of a clinical bioinformatician involves, the kind of traits and skills required, and some of the challenges facing both those working in the profession and the NHS more broadly.

They introduce the field of clinical bioinformatics, and explain:

  • the vital importance of bioinformatics to sift through large amounts of genome data and home in on what might be important for each individual patient;
  • that clinical bioinformaticians can be thought of like librarians, categorising and indexing large amounts of information and making it accessible to those who need it;
  • the need to combine knowledge of both computer science and biology to answer questions and solve problems.

This video shows how crucial clinical bioinformaticians are in interpreting the large amounts of data generated by whole genome sequencing.

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This video is from the free online course:

Whole Genome Sequencing: Decoding the Language of Life and Health

Health Education England

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