Bioinformatics and data science

Working with the largest collection of whole-genomes and linked clinical data comes with its challenges, but this is what motivated me to work at Genomics England. We get first-hand experience in running cutting-edge analyses at large scale – such looking at the effect of non-coding genetic variants on rare diseases or identifying participants who might be eligible for clinical trials based on their genomic profile. It’s inspiring to know that the bioinformatics pipelines we’ve created at Genomics England are used by hundreds of users within our Research Environment - who go on to make new discoveries, which ultimately benefit our participants.

Back when I joined Genomics England in 2016(!) it felt to me like The place to be for a Bioinformatician working on human genome variation; the 100,000 Genomes Project had recently kicked off, positioning Genomics England as a world-pioneer in the large (national!)-scale application of next generation sequencing (NGS) to clinical practice, and I was lucky enough to earn a position!

Today, as Lead Bioinformatics Engineer, I feel privileged about this opportunity to have real clinical impact while staying at the forefront of bioinformatics and software engineering.

Genomics England keeps me engaged by constantly pushing the limits and involving me in projects like the long reads project for detection of structural variants in cancer applied at a national scale or the Newborn Genomes Programme. Genomics England is today undoubtedly a world leader in genomics 5-10 years ahead of any other similar initiative in the world.

I’ve been working at Genomics England since 2015 and it’s still my favourite job ever! Impact to healthcare, proximity to patients and clinicians, scale and ambition, collaborations with cutting edge science is what makes my time at Genomics England so special. If the first thing you learn in the morning is that the results of genomic data analysis that we’ve shared with a treating clinician allowed them to reduce toxic treatment for 2-months-old baby due to the favourable prognosis, can your job be more satisfying and fulfilling? Now multiply it to hundreds and thousands of patients and you’ll see why I love my job.

But we never stop horizon scanning for new types of genome analysis that can inform patient management or bring us to new collaborations with leading scientists from around the world all the time. Last but not least, I very much enjoy the collaborative and supportive comradery vibe that dominates at Genomics England.

I joined Genomics England in 2016, excited to be part of the 100,000 Genomes Project and to work alongside a team of brilliant bioinformaticians, clinicians, and software developers.

Since then, the Genomic Medicine Service has launched and we have grown as an organisation. In addition to the colleagues above, I’m now lucky to work alongside designers, researchers, coaches, and more.

Every day I’m learning new things, contributing to the delivery of cutting edge genomics in the NHS, and having an impact on patients' lives.