For the last 10 years I have been a clinical scientist in genetics working across various London NHS Trusts. Whilst I loved diagnostics, last year I left my job to complete my PhD. I worked in a part of life sciences called cytogenetics. This meant when a patient was diagnosed with blood cancer, I would analyse their chromosomes – the structures into which DNA is organised – from their blood or bone marrow to look for specific abnormalities. For some patients, this can lead to a definitive diagnosis. For others a refined prognosis, and in some, it’s simply a way of monitoring how well the patient’s leukaemia is responding to their treatment.
Blood cancer can be very straightforward to diagnose and it was perfectly possible to provide genetic confirmation of a blood cancer diagnosis in a matter of hours. For example, in patients with chronic myeloid leukaemia (CML), I would find a particular abnormality called a Philadelphia translocation between chromosomes 9 and 22. Finding this translocation means a patient will benefit from a targeted therapy – called a tyrosine kinase inhibitor (TKI) – which reverses the effect of the translocation with relatively few side effects. TKIs are a tablet taken once or twice a day at home. Compared to chemotherapy, TKIs have revolutionised the treatment and outcomes of CML, which has been life-changing for CML patients. It was always satisfying to call the referring clinician and let them know their patient had a Philadelphia translocation because I knew that would set the wheels in motion for a TKI to be prescribed. Ultimately I knew I had made a difference to a patient on those days. (more…)