Non-urgent advice: Profile
Specialist biomedical scientist
Healthcare science specialism
Biochemical genetics unit
My job can vary on a daily basis. One of the key services I contribute to is performing neonatal screening for inborn errors of metabolism and haemoglobinopathies. This is part of a national screening program and the BGU screens approximately 30,000 babies per year in East Anglia. I am also responsible for performing metabolic investigations on blood and urine samples to aid diagnosis and monitoring of inherited metabolic disorders, supporting genetic and metabolic clinics at Addenbrooke's and across the region. Another key service I work on is the analysis of immunosuppressant drugs for therapeutic monitoring of patients who have had a transplant or have autoimmune disorders.
COVID-19 had a significant impact on the way we work in the laboratory. A lot of our sample preparations involves vortex mixing, which creates an aerosol, so we have to prepare any samples from patients who are suspected or confirmed to have COVID-19 in a microbiological safety cabinet to avoid risk of exposure. This has meant extra work for all staff in the department, but it is necessary to ensure that staff stay safe and that patients still get their results.
I love knowing that my work makes a difference to patient care; it’s something I’m really proud of. I also love the detective work of undertaking tests to help pin down a diagnosis, because different metabolic diseases can present quite similarly so a diagnosis is not always clear cut. The sample preparation work I do is very manual and involves lots of different steps, so it’s quite satisfying when an assay passes because I know I have done everything correctly and patients will get their results on time.