Healthcare Science Week 2024 – Meet the people shaping the future of genomics
Healthcare science is made up of 50 different specialisms, and has played a pivotal role within the NHS over the past 75 years in the diagnosis, treatment and prevention of disease within our population.
As one of these specialisms, genomic medicine is revolutionising patient care in a number of areas including oncology, pharmacy, rare disorders, mental health and infectious diseases.
Genomics increasingly informs the health care provided to patients, and there is a growing likelihood that healthcare professionals across multiple fields are likely to talk to patients and their families about genomics.
To celebrate Healthcare Science week, we’re shining a light on some of the incredible healthcare science workers who are paving the way for the future of genomics and helping to change healthcare for the better.
Meet Joanna…
Pre-Registration Clinical Scientist, Haematologic Oncology – The All Wales Medical Genomics Service
As a Pre-registered Clinical Scientist, I am privileged to play a role in the delivery of molecular and cytogenetic testing services, ensuring that each test is performed, interpreted, and reported with accuracy and timeliness. Examples of the tests I conduct include NGS analysis for hematologic malignancies, quantitative and qualitative BCR-ABL1 analysis for the diagnosis and monitoring of CML, JAK2 and CALR mutation analysis for the diagnosis of myeloproliferative neoplasms, and FISH analysis. Knowing that my daily work directly contributes to improving patient care is truly rewarding.
Meet Amalu…
Pre-Registration Clinical Scientist, Haematologic Oncology – The All Wales Medical Genomics Service
Hello, my name is Amalu. I work as a pre-registered Clinical Scientist at haematological oncology service in AWMGS. I focus mainly on the analysis of somatic variants in haematological malignancies. This helps the clinicians to understand the prognosis of the disease, and assign the appropriate care for the patients. This task is research heavy, and involves decision-making skills to classify the variant as actionable or not i.e. is it relevant for that disease or not. It is always interesting to find out about how the variants present in the gene affect disease progression, the mechanism involved and the clinical trials happening to target that gene.
Meet Heather…
Trainee Clinical Scientist – The All Wales Medical Genomics Service
I’m Heather and I’m a Trainee Clinical Scientist in Genomics. I’m currently on the NHS Scientist Training Programme which has enabled me to undertake multiple work based rotations and undertake a range of different activities to develop my skills for the role whilst also studying for an MSc in Clinical Science. I’m really pleased to be pursuing a career in Genomics as it is a fascinating area of medicine with constant developments that make a real difference to our patients. Regarding the training programme, I enjoy the fact that I am always learning and constantly being challenged and that I have a lot of flexibility to self direct many aspects of my training.
Meet Patrick…
1st Year Clinical Bioinformatics-Genomics STP – The All Wales Medical Genomics Service
I’m loving my first year as a Bioinformatics STP trainee in AWMGS, rotating around each section. I’m dipping into the rare disease, cancer, technical, bioinformatics and genetic counselling teams to get the full picture of the genomics service. I’m being very invested in, with training and shadowing opportunities, and demonstrating my learning with regular evidence submissions. Soon I’ll cement myself in the bioinformatics team and get started writing code, handling queries, working on databases and so on. I’m excited to begin contributing to work aimed at aiding the diagnosis of Welsh patients.
Meet Charlotte…
Pre-Registered Clinical Scientist – The All Wales Medical Genomics Service
I’m a pre-registration clinical scientist in cancer genomics, working in the familial cancer section. My role can be split into two main sections. The first is testing patients affected with cancer to see if they are eligible for more specific treatments. If eligible this has been shown to have a positive impact on patient survival and quality of life. The other is if a person has a known cancer susceptibility in the family, testing them to see if they are also susceptible to certain cancers. If susceptible the patient can be offered increased screening and monitoring. If not susceptible then this gives the patient piece of mind. I find my job highly rewarding and knowing the impact we can have on patients motivates to me to do my best every day.
Meet Megan…
Trainee Clinical Scientist – The All Wales Medical Genomics Service
Hi, my name is Megan. I’m a Trainee Clinical Scientist specialising in Cancer Genomics at the All Wales Medical Genomics Service. I’m currently in my first year of the Scientist Training Programme, enjoying the challenge of balancing my work-based portfolio with university assessments and many other opportunities to engage with patients and the public. With a background in skin cancer research, it is rewarding to be able to use my knowledge and experience to make a direct impact on patients in this new role where we analyse the genetic code of patients with cancer to inform treatment decisions. Recent rotations through Bioinformatics and Histopathology teams have helped me understand how important our role is in providing tailored, high quality patient care. I would highly recommend a career in healthcare sciences.
Meet Rokhsana…
Trainee Clinical Scientist – The All Wales Medical Genomics Service
My name is Rokhsana Siddique and I work in All Wales Medical Genomics Services (AWMGS) as a Trainee Clinical scientist. My role as a Trainee Clinical Scientist is multifaceted and involves wide range of advanced healthcare science activities including analysis of patient samples, interpreting test results and reporting. I really enjoy working with advanced, complex technologies like Next-Generation sequencing (NGS) and automated analysers. This is a rapidly evolving field therefore it’s critical to stay updated on recent developments in diagnosis and treatments. Knowing that my profession has a direct impact on patient care makes me feel really fulfilled and purposeful. I am really enjoying this journey and there are always new challenges and opportunities for advancement at AWMGS!
Meet Emily…
Bioinformatician, Pathogen Genomics Unit – Public Health Wales
Working as a bioinformatician for Public Health Wales means that I can use my biological knowledge and coding skills to provide important real-time information to clinicians and epidemiologists. This information helps to track the spread of disease-causing microorganisms as well as support with clinical decisions, such as diagnosis and treatment plans. Working in a multidisciplinary team alongside laboratory scientists in PenGU and other wider networks ensures a smooth flow of information through our pipelines and out to the public.
Meet Sara…
Bioinformatician, Pathogen Genomics Unit – Public Health Wales
I am a Bioinformatician, a field which combines biology and technology. I work in genomics in healthcare where, working as a part of a multi-disciplinary team, we explore how understanding the genomics of pathogens can improve health. To me, it’s important to increase the diversity of the workforce to bring in new perspectives and ways of thinking and working as this really helps innovation. I hope seeing women have successful careers in this fascinating and impactful field will encourage more women and girls to consider joining us.
