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Kirsty McCaffrey Trainee Bioinformatician

Kirsty McCaffrey discusses her day and what the challenges are for bioinformatician's role.
We’re going to explore the role of a clinical biometrician in the health care setting today. So can you introduce yourself, where you work, and what your role is? My name is Kirsty and I work at the Manchester Centre for Genomic Medicine based at St. Mary’s Hospital here in Manchester. And I’m a trainee clinical biometrician on the Scientist Training Programme, which is run by the NHS. So what does a typical day look like for you? A typical day can involve many things. It can involve running both diagnostic and research pipelines and a lot of documentation creation– so creating standard operating procedures and service-level agreements in order to standardise the work that we do so that we can repeat results quite easily.
And it also involves a lot of communicating with the genetic clinical scientist to either discuss new techniques that we’re implementing or to talk about results that we may have obtained. How do you perceive the role of a clinical biometrician is really making a difference in the patient’s journey? Well, bioinformatics in the NHS is a relatively new discipline but it’s enabled the high throughput of a lot of patient samples in a relatively short amount of time, whereas a couple of years ago, this wouldn’t have been possible. So I see that it’s really improved the number of patients that we’re able to get a diagnosis for. And for those patients, it can mean an answer to a condition.
It can also mean preventative treatment or therapeutic treatment can be begun for them. What do you perceive are the main challenges in working in informatics and bioinformatics and really realising the genomic revolution in health care? The main issues that I see are data storage. We are required by law to store genetic data for 30 years. And with the size of the data that comes through on a day-to-day basis, it would be very easy for us to run out of storage quickly. So we’ll need to think of innovative ways to store that data and then also be able to retrieve it and re-run samples. What’s the typical size we’re talking about of a typical patient’s genome?
Well, a typical raw sequence of a patient’s genome can be about 200 gigabytes. So you can see just how much data we would be required to store, especially for a 30-year time period. Can you explain the key skill sets that a clinical biometrician requires to make sense of all this genomic data within the health care setting? I’d say the main skill that you’ve got to have is problem solving, to not be put off by a challenge.
And also communicating skills– so once you’ve solved the problem that you’ve been tasked with, explaining that to the genetic clinical scientists who will have an understanding of the biological basis of the problem and the genetic basis but may not understand the computing side of it, which is what we are heavily focused on.

Meet Kirsty!

Kirsty McCaffrey discusses her typical day as a trainee bioinformatician and touches on the challenges and opportunities for the profession. For example, to be compliant with current guidelines, Kirsty discusses having to store the raw sequence data from each patient which can be up to 200 GB in size for a single patient. To give you an idea the average hard drive of a laptop can store between 100-300GB, so you can see how data storage of genomic data can quickly become a problem in healthcare.

Over to you

You’ll see that Kirsty also highlights communication as a key part of her role, it’s important that all healthcare professionals develop this skill to communicate with their colleagues and patients when required.

Given clinical bioinformaticians are not patient facing can you suggest ways that a trainee might develop this skill?
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Clinical Bioinformatics: Unlocking Genomics in Healthcare

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