Meet the genomic medicine team
Our genomic medicine service is managed by a team of genomic practitioners and clinical genomic champions
Head of Genomics & Personalised Medicine
I’m responsible for the operational and strategic management of this newly commissioned service which includes single gene testing, whole genome sequencing (WGS), and personalised treatment plans. Building on existing genomic knowledge from the 100,000 genomes programme to inform new patient pathways, academic and industry research and help in new drug discovery and better patient care.
Genomics Transformation Manager
My aim is to enable teams embed genomics in their practice. I am here to support colleagues develop new pathways, foster multidisciplinary collaborations and innovate in the field of genomic medicine. I also support the North Thames GMSA, through my role as Genetic counsellor lead, engage with clinicians and deliver genomic education courses.
Dr Bianca DeSouza
Clinical lead of the Genomics and Personalised Medicine Team and Consultant in Clinical Genetics
My aim is to help embed genomics into routine clinical pathways across different specialities at Imperial College NHS trust to inform and improve care for patients and their families. I am responsible for the development and implementation of new genomic pathways, regional genomic MDTs, and joint genomic clinics within the trust. I provide support for genomic champions, new genomic innovations, genomic education, and genomic research. I also jointly work as a Consultant in Clinical Genetics at the North West Thames Regional Genetics Service, and I have a specialist interest in Cancer Genetics.
I’m working collaboratively with ICHT clinicians and external multi-disciplinary teams on department clinical projects such as: Whole Genomes Sequencing (WGS), delivering of 100K results to West London Genomic Medicine Centre patients. I also provide clinical support to both the trust’s internal and external stakeholders towards the transformation of ICHT’s genomic and personalised medicine.
I was involved in delivering the 100,000 Genomes Project and now I’m working collaboratively at ICHT in the mainstreaming of Genomics in the NHS.
My role is to collate data on endometrial cancers and review ovarian cases for BRCA and IHC testing. In addition, I’m contacting and consenting families to take part in genetic testing and supporting clinicians during gene discovery clinics
I support the integration of genomic medicine into mainstream NHS patient care. In my role at ICHT genomics and personalised medicine service I’m involved in medical communications and in educational content creation to aid public awareness and knowledge of genomics.
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