Dr Lowri Hughes, Principal Clinical Scientist in Genetics

Healthcare is being transformed by our understanding of genetics and consultant clinical scientists are at the forefront of targeted therapies that are vastly improving outcomes for patients. We catch up with Dr Lowri Hughes about her role as a Senior Principal Clinical Scientist. 

I really enjoy games and puzzles and to me, the genome is just that, a giant puzzle that we are trying to solve and understand what it all means. I always knew I wanted to have a career that really made a difference, and I love how genomics has such wide-ranging implications for patient care.

Can you tell us what Genomics is?

In simple terms, Genomics in the NHS is studying a patients genome by investigating genetic material to understand more about their disorder or to help identify and formulate appropriate management strategies. Clinical scientists use genomic techniques to help diagnose conditions, to provide information on further features they might develop and also to identify potential targeted therapies for example to treat their specific tumour type. It can also help identify at-risk family members who might not yet be affected by a genetic condition that runs in their family. Genomics is integrated in a wide variety of patient pathways and scientists in genomics laboratories deal with a wide variety of sample types including blood or saliva to investigate inherited disorders, prenatal samples to help screen for genetic conditions during pregnancy and tumour samples to investigate specific changes in tumour DNA that might identify potential treatment options for a persons cancer.

Can you tell us about your average working day?

In genomics there is no such thing as an average day. Typically for a clinical scientist there would be an element of analysing patient data, interpreting genomic findings i.e. deciding if the changes identified are likely to be linked to their condition or useful for targeted therapy and issuing reports to clinical teams. In the wider context, clinical scientists are also responsible for providing expert advice to service users, ensuring services are high quality, reviewing and improving processes, triaging samples to ensure they get the correct testing, training and educating other healthcare professionals, troubleshooting tests when they are not performing as they should and working collaboratively with other healthcare professions e.g. in multidisciplinary meetings to provide patient centred care. Some clinical scientists also have wider reaching roles such as university teaching and training, curriculum development, working within national and international professional groups and bodies or developing best practice guidelines, the list of opportunities is endless. Although I often have a plan for my day, its is often difficult to stick to as we work in a fast-paced environment with lots to do and often not a lot of time. Its one of the things I enjoy about my job, you never know quite how your day will play out.

What kind of work does your job involve?

My role as a Clinical Scientist is mostly office based and I am very rarely in a laboratory, which might be a surprise given my job title. My role typically involves being sat at a computer most of the day interspersed with meetings. Most days I will be using my knowledge to analyse and interpret result and ensure that the results are explained appropriately in clinical reports. I spend a lot of the day talking with colleagues, answering queries and dealing with issues, providing advice to my team, wider department and to other clinical teams. As a senior clinical scientist I also spend a significant portion of my time in meetings, discussing how the team is working, how we can continue to improve ways of working (as sample numbers continue to increase) to make things more efficient and of course checking in with my team members regularly to ensure they are ok and managing their work and wellbeing.

Why did you choose this specialty?

I’ve always been fascinated by Genomics, probably first triggered by learning about Mendel and his peas and Dolly the Sheep. I really enjoy games and puzzles and to me, the genome is just that, a giant puzzle that we are trying to solve and understand what it all means. I always knew I wanted to have a career that really made a difference, and I love how genomics has such wide-ranging implications for patient care.

What do you enjoy most about your chosen specialty?

I enjoy the intellectual challenge of genomics but also the ethical challenge that genomic testing can bring as results don’t just impact the individual but the wider family as well. I also enjoy the challenge of a fast-paced, fast-moving field. Genomic technologies are evolving all the time, getting bigger, better and quicker. Although keeping up with technology can be a challenge, it means there is always more to learn and new challenges to face – it is never boring. I really enjoy the variety in the role and the range of different healthcare professions I get to work with.

What do you find most rewarding about the role?

I feel so privileged to do the job I do. I get to see the instructions that make someone the way they are and contribute directly to finding ways to help them. I always wanted a job that makes a difference and I love that I have the opportunity to directly impact patients every single day. It’s a very high-pressure job and not always easy but the work we do is so important, and I am reminded of that when working with clinical teams and seeing the impact our results have on patients and their families. I find problem-solving really rewarding, seeing how ideas or suggestions you make reduces backlogs or means patients are getting their results quicker is really satisfying. I’m a real people-person and as a manager and training officer, I feel privileged to be able to work closely with others and help them learn new things and develop new skills. The role I have allows me to bring these passions together to use my knowledge and skills to directly influence patients but also help develop my team as well.

What advice would you give to students looking to enter your field?

Really consider why you want to work in this field. As mentioned, it is a fast-moving high-pressure role and you have to be able to cope well with constant change and be passionate in order to succeed. Its so difficult to know what a job is really like until you are in it so try and talk to lots of people about it, attend open days and conferences and try and get a visit to a genetics lab if you can although that can be tricky. Also as mentioned, the field is evolving all the time and there are lots of opportunities for different roles so keep an eye out on exciting things that are coming our way and see what interests you most.