Great Ormond Street Hospital for Children NHS Foundation Trust
Job summary
Applications are invited from State Registered Clinical Scientists in Genomics. Scientists close to registration will also be considered.
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.
You will support an area of our core, specialist or prenatal genomics service dependent on experience. Applications are welcome from registered scientists from either cytogenetics or molecular genetics. Our scientific teams are cross-discipline with opportunities for cytogenetics and molecular genetics across the department. 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
Combined Values
Essential
- Combined Values
Academic/Professional qualification/Training
Essential
- First or Second Class Degree in Molecular Biology, Genetics, Biochemistry or related subject
- HCPC Clinical Scientist Registration Certificate
Desirable
- Postgraduate qualification in Genomics
Experience/Knowledge
Essential
- Extensive knowledge of clinical genomics and a demonstrable track record in the delivery of a diagnostic service
- Knowledge of structural chromosome rearrangements and segregation, CNV analytical methods and clinical applications OR
- Knowledge and experience of molecular variant classification in accordance with ACGS guidance and their application for all modes of inheritance
- Track record of scientific Publications/ presentations
- Significant postgraduate experience in a clinical genomics laboratory
Desirable
- Evidence of supervising/training other staff
- Experience with laboratory information and quality management systems
Skills/Abilities
Essential
- Skilled in the use and application of molecular genetics and/or cytogenetic techniques
- Skilled in genomic CNV analysis by use of G banded chromosomes / FISH / Microarray OR Skilled in Next Generation Sequencing Applications / Sanger Sequencing / Dosage analysis
- Able to establish and validate new techniques / tests including ability to troubleshoot. Willing to adapt to changes in methodology
- Computer literate, including use of DNA/Genetic databases, analytical software, variant classification
- Able to communicate effectively both verbally and in writing (by email and by appropriate documentation)
- Able to write protocols
Closing Date: 12 July 2026
To apply for this job please visit apps.trac.jobs.