What does a Genomic Data Scientist do?
By Nadezhda Feliz on
The Genome Analysis team at Genomics England are working to develop cutting-edge genome analysis approaches to apply in the clinic. They aim to enable world-leading personalised healthcare that is accessible for everyone.
In this blog, Nadezhda Feliz, Genomic Data Scientist, shares her motivation for working in rare conditions research.
My role at Genomics England
I work as a Genomic Data Scientist in the Rare Disease team at Genomics England. The main goal of our team is to develop the Rare Disease (RD) tiering pipeline, which is the process we use to sort and prioritise disease-causing genetic changes in patients with rare conditions.
Usually, I am working on several projects at the same time, and my everyday tasks vary depending on the stage of a certain project. The first step of any project, however, is the discovery and analysis phase.
During this phase, we assess whether a new tool or database provides high-quality data. This is to determine if it would be beneficial for our pipeline, and evaluate any potential risks or side effects. At this stage, I write scripts of computer code, analyse data, and present results to other genomics data scientists so we can discuss them in detail.
Once we’re confident that our new tool will add value, we move into the phase called implementation. Here, bioengineers take the lead on the coding work, while my role shifts to providing them with test data, clarifying what those who use the data will need, and ensuring that everything aligns with our objectives.
My inspiration for working on rare conditions
I always had a passion for science, but one thing I found frustrating in academia was the long waiting time to see the real-world application of research. I like to feel that the work I’m doing is having an impact today, not years down the line.
That’s why my role at Genomics England is such a perfect fit. Here, I get to work alongside talented scientists and software developers to take the latest scientific discoveries and turn them into tangible healthcare solutions.
A good example here could be one of our recent projects, where we added several types of non-coding genes to our pipeline. A few months later, a publication in the journal Nature showed that changes in a specific non-coding gene can cause a neurodevelopmental condition.
As this publication provided enough evidence, our colleagues who work on PanelApp (a Genomics England database of genes that have been linked to disease), marked that gene as medically relevant. Now patients with potentially disease-causing changes in this gene will be able to get their diagnosis.
It is incredibly rewarding to see how quickly our work can make a difference in the real world.
What makes me passionate about my work?
Our process of prioritising genetic variants for rare conditions, known as our pipeline, is complicated work, and I am fascinated by how all the parts fit together.
When we are developing new features, we need to keep in mind a lot of minor details. For example, we need to consider how changes in the downstream processes and upstream teams could impact our pipeline. It feels like solving a puzzle – which I really like to do.
During communication with other teams, I always learn something new, so my work never becomes boring.
The second aspect I like is the fact that I participate in creating a high-quality product. Our pipeline has been accredited as a medical device, and I have seen how much work has been done to make sure that the pipeline’s results can be safely used to make crucial decisions about peoples’ health.
The future of rare conditions research
It is difficult to say for sure what will happen in the field of genomic medicine. For example, 10 years ago it was difficult to imagine whole genome sequencing for newborn babies to screen for treatable rare conditions, but now with the Generation Study, it is reality.
We generate data now at such a high speed, and my colleagues from the research teams at Genomics England are working hard to make data accessible to more scientists and specialists, which I hope will lead to new discoveries and benefits for patients
And finally...
If you want to learn more about rare conditions, read our Genomics 101 blog: What is a rare condition?
Or, you can also check out our technical bioinformatics blogs.