Today (21 September) is 'Jeans for Genes' day and we are turning the focus on genomics for our latest Meet the Member feature. Professor David Rees is a Consultant Paediatric Haematologist with a specialist interest in sickle cell disease at King's College London. We spoke to Professor Rees about how genomics is shaping his work & how it will influence haematology in the future as well as his career with advice for anyone wishing to go into the profession.
What led you to a career in haematology?
I did not really know what I wanted to do after qualifying as a doctor. I applied for a random selection of jobs including in training schemes in general practice and psychiatry, and jobs in the pharmaceutical industry and merchant banking. The first job I was offered was a training pathology rotation in Oxford, including histopathology, chemical pathology, haematology and microbiology. I thought I might want to be a histopathologist, although I found post-mortems a bit disgusting and was very bad at recognising different tissues down a microscope. The next bit of the rotation involved haematology, which I enjoyed; it was particularly satisfying to see a patient, and then take the blood to the laboratory, arrange the investigations, and look at the blood down the microscope. I think I was also lucky to be taught by some interesting and humane haematologists early in my career, including Tim Littlewood, Jim Wainscoat, and David Weatherall.
Can you tell us about your work in genomics and what interests you most about it?
My interest in haematology is mainly in inherited red cell disorders, and high throughput genetic testing has made a big impact over the last few years, with the development of next generation sequencing gene panels. In particular, we used to see a lot of patients with haemolytic anaemia and no clear diagnosis, despite fairly extensive enzyme assays and other red cell analyses. We now have a red cell panel, developed by Barnaby Clark, with more than 100 different genes covering all known inherited causes of haemolysis and lots else besides. We are now able to diagnose nearly all the cases we see and are understanding more about the phenotypes associated with genes, and the way mutations in these genes interact. We occasionally use whole genome and whole exome sequencing, although in red cell disorders these seem rarely necessary, and previous difficulties with diagnosis were mostly due to the inadequacies of the phenotypic assays rather than there being a large number of very rare conditions. I suppose I am particularly interested in seeing the range of phenotypes associated with mutations in particular genes, and understanding this variability.
What advances will genomics bring to the delivery of healthcare in the future?
I doubt that I have any great insights in this area, but it seems very likely that genomics will allow improved, and rapid diagnosis, and a greater appreciation of differences between conditions which were previously considered similar, which in turn will lead to more individualised management approaches and precision medicine. I guess that every patient in high income countries will have their whole genome sequenced, and presumably carry it around with them on some sort of device, and that the key skill for doctors will be to interrogate this genomic data in the light of the patient’s symptoms.
What advice would you give to someone considering a career in haematology?
As for most of medicine, the key skills are being relatively sane and kind. I think increasingly haematologists, and probably all doctors, will need good bioinformatic skills and knowledge of the various genomic data bases. And don’t mix beer and wine during the week.
What are the most rewarding and most challenging aspects of your job?
The most immediate rewards come from treating patients, and the sense that you may have helped them in some way. The most challenging part is trying to prioritise the different demands on my time, and to maintain enthusiasm and interest.
What does being a BSH member mean to you?
I suppose I feel it is the organisation which best represents my professional interests and concerns. Although most haematologists are now very subspecialised, there are some commonalities between all the different areas, and BSH brings all this together. I think the Annual Scientific Meeting should be important, and there are encouraging signs that this is now becoming a better, more interesting meeting. BSH has played an important role in developing guidelines, and the British Journal of Haematology has been important over the years, although has perhaps suffered recently as more competitive haematology journals emerge.
*The contents of this article do not reflect an official BSH position. We would value your thoughts on this article and hope it provokes discussion within the haematology community.
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