As a principal clinical scientist, I have the privilege of leading the haemato-oncology molecular myeloid team within Cambridge Genomics Laboratory. We deliver genomic test results for both adult and paediatric patients with haematological (blood) cancers and those who have received a transplant.
Could you tell us a little about your role at CUH?
A significant part of my role involves delivering genomic test results for both adult and paediatric patients with haematological (blood) cancers and those who have received a transplant. My work comprises the analysis of results from several molecular assays including Next Generation Sequencing (NGS) assays and Whole Genome Sequencing (WGS) findings.
I take responsibility to present some of these results at Genomic Tumour Advisory Board meetings where, together with the clinical care team, we discuss the outcome of the sequencing results and the implications for each patient and potentially for their family members.
In cases where results show an inherited variant - a change in the patient's DNA that can be passed through generations - this requires more complex discussions, often in the presence of a clinical geneticist. This is to ensure that the family receives the necessary support with the finding and understands what it means for them.
What else does your role entail?
In addition to my clinical and analytical responsibilities, I also play a significant role in personnel management and service improvement. I am constantly looking for ways to increase the throughput of tests, improve standards and reduce costs where possible. This involves working closely with the quality team and colleagues from across the laboratory, ensuring our services are efficient, effective and of the highest quality.
As an STP assessor, I have the opportunity to shape the future of the cancer field. I assess the competencies of STP trainees, helping them on their journey to become registered Clinical Scientists. I provide support to STPs as they rotate across the various teams in the laboratory, and even extend this support to trainees from other departments.
Furthermore, I am passionate about education and sharing knowledge. I teach students at the University of Cambridge and local colleges, contributing to the development of the next generation of scientists.
What inspired you to a career in science?
I always desired to be a scientist.
My initial interest was driven by the aspiration to unravel the intricate biological pathways within a cell and comprehend how a cell determines its destiny - whether it becomes a muscle cell or a nerve cell, or, when things go wrong, a cancer cell. This led me from purely laboratory-based work to translational and clinical projects. The opportunity to work on initiatives that have a tangible impact on patients and their families has been incredibly rewarding.
My academic journey began in Milan, where I pursued a degree in Biological Sciences. This foundation paved the way for my subsequent PhD, further deepening my knowledge and passion for biology. My first postdoctoral position was at the esteemed Gordon Institute in Cambridge, where I had the privilege of working under the guidance of Professor Sir John Gurdon.
Can you tell us a bit about your team?
My team is composed of enthusiastic clinical scientists, scientists on the Scientist Training Programme (STP), pre-registration scientists and biomedical scientists. They are highly committed to providing accurate molecular testing reports to referring clinicians and patients.
The team is quite diverse, with members from various academic backgrounds and cultures. This rich mix of perspectives foster a dynamic and collaborative environment that is one of our greatest strengths. We work in close partnership with the Haematopatholgy and Oncology Diagnostic Service (HODS) department, which conducts the initial clinical assessment and screenings. Our role is to follow up with the necessary genomic tests, ensuring a comprehensive and integrated approach to patient care.
The East Genomic Laboratory Hub (East GLH) provides tests for patients across the East of England and East Midlands regions. On behalf of my team, I regularly participate in regional meetings with colleagues in Leicester and Nottingham, where we strategise on improving the delivery of our cancer service.
Together, we are committed to advancing the field of genomics and delivering the highest standard of care to our patients.
How has genomic testing changed since you started in your role?
Since I began my role, the landscape of genomic testing has transformed significantly. Over the last four years, there has been a marked increase in clinicians' awareness of genomic tests. This has been accompanied by advancements in sequencing technologies, enabling us to sequence patients' genomes with greater accuracy. This precision has allowed us to identify variations more effectively, leading to more accurate disease identification. WGS has become more accessible to a larger number of patients, paving the way for more targeted and effective treatment strategies.
There is also more interest from companies in understanding the human genome. This translates in the development of more tailored and personalised treatments, which not only enhances efficacy of treatment but also minimises side effects.
What are the challenges in your role?
One of the primary challenges in my role is managing the increasing demand for tests and subsequent reports. This necessitates continuous reflection and development of strategies on how to operate our service in the most efficient manner.
For instance, we are currently streamlining our testing process for myeloproliferative disorders (uncontrolled increased production of blood cells). By replacing four separate molecular tests with one specific NGS panel, we are not only improving efficiency but also freeing up valuable time for our analytical and technical teams.
A similar challenge we've recently addressed involved a stand alone assay which was quite time-consuming. We've replaced this with an NGS-based test, creating a more efficient pathway for patients with acute myeloid leukaemia.
Despite these challenges, our team is committed to continuously improving processes and delivering high-quality genomic testing services.
In summary what do you like most about your role?
I find immense satisfaction in my role due to its direct impact on patient treatment.
I take pride in applying my knowledge and experience to ensure the correctness of patient results. I also enjoy training and supporting colleagues. I appreciate the diversity within my team and adapt my leadership style to support their different needs.
Being on the Biomedical Campus offers me the advantage of collaborating with my former academic colleagues on research projects. The facilities offered on campus also add value to my work environment.