Great Ormond Street Hospital for Children NHS Foundation Trust
Job summary
Applications are invited from experienced State Registered Clinical Scientists in Rare Disease Genomics with DipRCPath or FRCPath.
You will be joining the team at the North Thames Rare Disease Genomics Laboratory at Great Ormond Street Hospital. We are seeking enthusiastic, self-motivated Scientists with experience of clinical genomics service delivery and a sound understanding of genomic techniques including variant assessment. Accomplished communication and organisational skills are required. An interest in Quality Management, Training or Laboratory Health and Safety would be advantageous. You will lead a team within our core, specialist or prenatal genomics service. Our scientific teams are cross-discipline with opportunities for cytogenetics and molecular genetics across the department. Applications are welcome from scientists with cytogenetics or molecular genetics experience, although a positive attitude to genomic analysis of all types is required. We support trained scientists who wish to adopt flexible and/or partially remote working patterns.
Main duties of the job
The GOSH Genomics Laboratory has an establishment of approximately 180 including Technologists, Clinical Scientists, Translational Scientists, Bioinformaticians and Administrative Support staff. Along with two Clinical Genetics Teams we form a strategic Genetics Unit within the hospital and provide North London with a Regional Genetics Service serving a population of approximately 10 million. The laboratory provides an in-house diagnostic service for paediatric and inherited cancer, molecular and cytogenetic testing in accordance with the NHS England Genomic Test Directory. This includes services for 11 of the designated specialist areas for the NHSE Genomic Medicine Service. Genomic testing is provided for both prenatal and postnatal samples using SNP microarray, karyotyping, FISH, qPCR, MLPA, Next generation sequencing, rapid genome sequencing, and various targeted tests. We are also engaged in the delivery of the NHSE GMS Whole Genome Sequencing programme for our North Thames patients.We are involved in a number of collaborative research and development projects with colleagues at the UCL Institute of Child Health and Institute of Neurology as part of the UCL Partners Academic Health Sciences Centre. We host a team of Translational and Research Scientists focusing on translation of new genomic technologies to the diagnostic service.
Person Specification
GOSH Culture and Values
Essential
- Our Always values
Academic/Professional qualification/Training
Essential
- 1st or 2nd class honours degree in a relevant biological subject
- State Registered Clinical Scientist (HCPC)
- Commitment to RCPath Fellowship
- RCPath Part 1
Desirable
- Higher degree or externally assessed equivalent level of knowledge and expertise within the speciality of Genetics/Genomics
- Royal College of Pathologists Fellowship (FRCPath)
Experience/Knowledge
Essential
- Post-registration experience in a regional clinical genomics rare and inherited disease service
- Extensive and comprehensive knowledge of genomic diagnostic methods required in a regional clinical genomics rare and inherited disease service
- Up to date knowledge of scientific literature and best practice guidance relating to molecular genetic and cytogenetic tests
- Knowledge of appropriate Quality Management and Audit regulations and requirements
- Evidence of an active programme of continuing professional development
Desirable
- To have completed a formal postgraduate training programme approved as appropriate for registration together with in service experience
- Experience of molecular cytogenetics techniques and their application within a regional clinical cytogenetics service
- Experience of participation in external quality assessment schemes for genomic tests
- Experience of training pre-registration scientists
- Knowledge of appropriate Health and Safety regulations and requirements
Skills/Abilities
Essential
- Positive, “can do” attitude to work
- Evidence of good inter-personal communication skills
- Skilled in the microscopic diagnosis of chromosome abnormality
- Skilled in the interpretation and reporting of complex genomic results, including giving advice on the implications and reproductive risks for patients and families
- Able to critically analyse and interpret scientific data
- Verbal and written presentation and communication skills. Able to present data at departmental and inter-departmental meetings.
- Ability to write and authorize normal, abnormal and complex reports
- Computer literate including use of Genetic databases and analytical software
Closing Date: 30 August 2026
To apply for this job please visit apps.trac.jobs.