18 September 2019

With 16-20 September 2019 being 'Jeans for Genes' week, we we are turning the focus on genomics for our latest Meet the Member feature. Dr Suthesh Sivapalaratnam is a Haematology SpR at the Royal London Hospital, as well as a member of the BSH Genomics Working Group. We spoke to Suthesh about his career in haematology, and his interest and work in genomics.

What led you to a career in haematology?

As a SHO I worked on the haemato-oncology ward at the Academic Medical Centre in Amsterdam. I think the two aspects which made me want to pursue a career in haematology were providing holistic care for our patients from the moment they get referred from the GP to completing treatment and the unique combination of implementing state of the art science.

What led you to hold an interest in genomics?

As a medical student I was involved in research at the Department of Vascular Medicine at the AMC in Amsterdam. I was keen on doing an elective abroad.

Through my clinical supervisor I was introduced to Profesoor Willem Ouwehand. At that time in 2004 he was setting up the Bloodomics consortium. Through his mentorship I have been involved in genomics studies starting with gene expression micro-arrays, genome wide association studies, and later family studies to more recently the pilot phase of the 100.000 genomes.

It has been a privilege to be mentored by Willem as he was shaping the field of genomics in non-malignant haematology.

Can you tell us about your work in genomics and what interests you most about it?

I work within a multidisciplinary team, including bioinformaticians, statisticians and biologists where we work on the genomics of rare inherited platelet disorders. It starts from individual cases in clinic where we think there might be an inherited disorder, because of a strong family history or early onset. After consent, we extensively clinically phenotype them. Subsequently we try and recall and see as many family members as possible and extensively phenotype them too. Finally we have whole genome sequenced these families in order to identify rare variants. Through international collaboration we subsequently seek to find other individuals with the same variant. Once we have strong evidence from a genomics point of view we design and conduct specialist lab tests to study the mechanism through which the variant causes disease. As you can appreciate it is a big team effort with experts on different aspects. It is great to work in such a team. It is exciting to unravel novel mechanisms resulting in bleeding and platelet disorders.

What advances will genomics bring to the delivery of healthcare in the future?

For now, the major advances will be early diagnostics and thus early treatment. Also we will be capable of better tailoring treatment based on the genetic make-up of our patients. This already happens to a great extent in leukaemia care. I think we will expand this approach to other fields too. One day I suspect we will in large scale perform gene editing for single gene disorders as sickle cell, gene transfection for haemophiliacs and cure malignant disorders by reintroducing gene edited autologous stem cells.

What advice would you give to someone considering a career in haematology?

Go for it! Try and combine clinical work with a ‘hobby’ like science or education.

Red cells and figuring out how to introduce AI into our jobs are exciting avenues to pursue for the near future. And as my good friend Laura van Loendersloot says ‘you have to put up your own party decorations in life’. Things don’t always happen as you would like, but make sure to make the best of your situation.

I see people coming into science focused on authorships and papers. Start with focusing on working in good supportive environment where you will learn new techniques and build up collaborations. The papers will follow.

What are the most rewarding and most challenging aspects of your job?

The most rewarding is when you actually see that you have in a way helped the life of one of your patients. This could mean letting them have a near normal life with haemophilia, or guide them through a tough regimen for their leukaemia.

In my scientific work it is very rewarding when with a team of scientists you produce a paper deciphering a complex disorder and then can go back to your patients to explain them you might have come a bit closer to explain the cause of why they are ill.

The most challenging aspect is to manage work life balance. Leaving the hospital is never easy for me. But as soon as I am home and my boys (1 and 3 years old) say they miss me I always regret not doing so earlier.

What does BSH membership mean to you?

It is a great way to stay up to date and connect with other members who want to push to field forward.

BSH are seeking a Chair for our Genomics Working Group

Visit the BSH Genomics page of our website