I undertake on-the-job training structured to achieve HCPC registration as a Clinical Scientist in Genomics. My training is scheduled over a 3 year period during which I will rotate between teams and cover a broad range of scientific work. This includes genetic analysis, results checking, report writing, managing testing services, quality assessment, auditing, presenting seminars, a research and development project, and involvement in the formulation of policies, protocols and standard operating procedures. My first year of training was completed in cytogenetics. I assisted with the delivery of the karyotyping and FISH services for rare disease, as well as the common aneuploidy screening service.My second year of training was based on the molecular rare disease team. Whilst on this team I assisted with the running and management of the core testing services for familial hypercholesterolaemia (panel and cascade testing), cystic fibrosis, and skeletal dysplasia (achondroplasia, hypochondroplasia and thanatophoric dysplasia).I am currently in my final year of training on the neurology team. My key responsibility is performing variant analysis according to the ACGS BPG for core and neurology WGS referrals. I am also undertaking an R&D project utilising the 100k genomes dataset to investigate the aetiology of rare genetic disorders associated with altered kinase function.

My responsibilities included conventional cytogenetic analysis, writing diagnostic reports, reviewing incoming patient referrals and performing practical laboratory tasks.I held competencies in aliquoting tissue samples for DNA extraction and processing lymphocyte cultures for FISH studies and karyotype analysis. This involved cell synchronisation and harvesting, fixing metaphases onto slides and G-banding.Alongside my practical duties I managed a karyotype analysis workload and became practiced in identifying balanced and unbalanced chromosomal rearrangements and mosaic conditions.From May 2021 to May 2022 I held the secondary role of Training Lead for newly recruited technologists on the blood culture team. This involved developing training plans, scheduling witness audits and attending bi-monthly meetings with senior management to feedback training progress.

My primary duty was to carry out automated DNA extraction for a range of patient samples. I followed standard operating procedures to maintain the automated systems, set up the equipment and prepare samples. I quantified extracted DNA on a spectrophotometer to ensure that the quality of DNA met the minimum standards required for genetic testing. Other responsibilities of my role included handling sensitive patient information, recording referral details onto the online database 'StarLIMS', laboratory cleaning tasks, preparing reagents, restocking consumables and approving new stock for laboratory use.From August 2020 to March 2021 I took on the additional role of Chemical Store Lead. This involved monitoring chemical stock levels and managing the storage and disposal of hazardous chemicals for the department following COSHH guidelines.

Following a year studying in Australia, I obtained the position of Global Opportunities Ambassador at the University of Sheffield. I promoted the Student Exchange programme at open day events and mentored students preparing to study abroad.