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Meet the Genomic Scientists

Meet the scientists involved in whole genome sequencing and other types of genomic tests.
A clinical scientist in genomics is responsible for delivering a specialist repertoire of tests. We make sure the testing is at the forefront of science, to make sure that we’re offering the most appropriate testing that’s most likely to inform the patient’s management. We are that link between research and application. We take all the new technologies and methodologies that are coming out of the research field, and we’re able to apply them in the NHS in a way that benefits patients. Our tests involve sequencing the DNA of patients.
That can be very specific changes at particular regions, or that can be looking for any damaging changes in many genes and trying to identify which of those genetic changes might be responsible for causing disease in those patients. The results of that genetic analysis will really add value then by either finding a diagnosis for that patient, being able to determine which treatment is appropriate for that patient, or maybe by adding information about the prognosis. It’s really using all of that genomic information, pulling it all together and then providing that back to the clinician so that they can decide how to manage that patient and their family.
Clinical scientists can play a really valuable role in healthcare because they have in-depth scientific knowledge. The way it works in the genomics laboratory is that the technologists actually do the testing, so they’re in the laboratory, they’re generating the results, and the scientists then work with the technologists to interpret those results. In the genomics labs we can receive a wide range of samples, everything from patient’s blood, to tissue samples of various different kinds, and we process those samples primarily to obtain DNA. We then perform tests to allow us to essentially interrogate the DNA.
The genetic technologists are delivering on the lab work but they need to develop a skillset in the labs for actually delivering the benchwork so they become very proficient in the areas in which they’re trained, but crucially they’re also involved with liaising with their clinical scientist colleagues with the interpretation and the analysis of results and as well reporting results. They have an impact on virtually every aspect of that referral pathway from the moment it enters the lab through to the point at which it’s reported and the results go out to the clinicians and to the patients. Genomics is increasingly becoming a routine and an integral part of far more areas of medicine.
And it’s really exciting to know that the results that you’re delivering are having an impact for far many more patients in different areas. It’s not just a lab-based role anymore, you now need skills in bioinformatics, in IT, as well as being able to understand the science and the clinical side. What excites me most about the future is all the new ways that we will be able to help patients. Next-generation sequencing is really exciting because of the amount of information it can give about a patient’s disease at one time. We can use that information to really home in on extremely targeted therapies that could give the most benefit possible.
As technology continues to improve, the testing that we do becomes more complex, the analysis that we do becomes more complex. We’re starting to see fantastic investment in training for genetic technologists to enable them to use this new technology. The profession is just moving at such a pace that there’s probably never two weeks that are the same. It’s a really exciting time for clinical scientists because the number of genomic tests is going to increase significantly over the coming years. There’s a real opportunity to inform the future and be part of making sure that that future is a better repertoire of tests for all patients across the country.
There are so many new opportunities and they’re just waiting for us to get out there and grab them and turn them into clinical services.

In this video we meet the scientists involved in genomic medicine. These scientists are vital to the selection of appropriate tests, testing itself, and interpreting results.

Professor Sian Ellard, Professor Rachel Butler, Ronnie Wright, Jake Miller and Djemilah Gordon talk to us about the role that scientists play in making genetic diagnoses and developing treatment and management plans for patients.

The healthcare scientists involved in genomics fall into two distinct categories: clinical scientists and genetic technologists. The collaboration of these two different professional groups is vital.

We learn that:

  • Genetic technologists are responsible for what is commonly referred to as the ‘wet lab’ work; that is, the handling and processing of all different kinds of samples – for example blood, sputum or tumour – to extract DNA for genomic sequencing; they also have a role in interpreting results.

  • Clinical scientists have responsibility for ensuring the most appropriate testing is selected for each patient in line with the clinical question (it’s important to note that this won’t always be whole genome sequencing), as well as interpreting and reporting results.

  • Clinical scientists often specialise in either cancer or rare disease.

  • Genetic technologists often become expert in particular types of tests/processing, and as they progress through their careers they may take on team management or lab management responsibilities.

  • Clinical scientists are often involved in research and have a responsibility to stay up to date to ensure the best care and treatment options for patients.

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Whole Genome Sequencing: Decoding the Language of Life and Health

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