Jamie Ellingford PhD Student

So can you describe who you are and your role and where you currently work? So I’m Jamie. I’m a PhD student studying genomic medicine and clinical bioinformatics. I work within the clinical bioinformatics group in the Manchester Center for Genomic Medicine, and I’m supervised by a clinician who sees patients day in day out. So how do you perceive the role of a clinical bioinformatician is really making a difference in the patient’s journey?

So certainly from the experience I’ve had within the group, we can see that the bioinformatics that’s enforced on a patient’s data sets actually can really be translated into their clinical data– so whether that’s preventative- or precision-based medicine techniques or just providing a diagnosis to inform the family of why the individual is ill or not. So can you describe to me why you think this is really an exciting area to work in at the moment? So I think it’s a very fast-paced area, and the government’s invested a lot of money to generate big sequencing data sets, and actually, that’s relying a lot upon what bioinformaticians can do with our data to interpret it.

And I think a lot of the problems that we’re going to encounter, we haven’t encountered yet. So it requires the innovation and development of new solutions to those problems. Jamie, what do you perceive are the main challenges in working in bioinformatics and informatics in supporting the genomic revolution in health care? Lots of the challenges within but the bioinformatic sector have been solved and are currently within the NHS genomic revolution. However, there’s going to be a lot more challenges which arise through projects like the 100,000 Genomes Project.

For example, having the computing power to be able to process such large data sets, having the storage to be able to keep those data sets for a long period of time, but also being able to interpret variants. So at the moment, we understand a lot about a small amount of the genome, so maybe 1% of that which codes for proteins. However, a huge amount of it is non-coded, and actually developing software or techniques to interpret those non-coding parts of the genome will be a real challenge in the coming years. OK. So Jamie, what might a typical day involve for you in the workplace? So my days are quite varied.

Sometimes I’ll be interpreting variants from whole genome-based sequencing data– so assess their pathogenicity in disease. Other days, I’ll be assessing variant detection software to see whether there’s new tools out there which we can integrate into the pipelines to detect variants better or different types of variants within our genomes. So Jamie, can you explain the key skill set that a bioinformatician requires to really explore genomic data within the health care setting? It’s going to definitely require a lot of patience and ability to problem solve, and also great clarity of thought to actually understand and visualize a problem which actually you might not be able to visualize yourself. Along with that, you need biological knowledge and skills in programming.

I think it’s particularly important to understand the biological questions you’re trying to answer and the biochemistry of the sequencing machines to actually generate correct and coherent solutions to those. OK. So you’re working on your PhD at the moment. So what can we learn from bioinformatics in research? So I think bioinformatics has got a big role, certainly, in a patient’s pathway through genomic medicine. And a lot of what we do in research is developing ways to better interpret and better detect variants. And so the ability to translate those two key techniques into the diagnostic pathways of individuals is really something which has great translational benefit.

What’s the role of a clinical bioinformatician in communicating their role to both other health care professionals, but also to the wider public? So as a PhD student in bioinformatics, I’ve been able to communicate my research, both to the general public and to other health care professionals and scientists, at conferences and within the workplace. But actually, what’s really important is getting our message out to the public– what we do, what the problems we try to solve are, and why that has a real impact on the health care services that can be delivered here within the NHS.

And so communicating those messages through media, through workshops with schools and with the general public is really, really an integral part of what we do.