Great Ormond Street Hospital for Children NHS Foundation Trust
Applications are invited from State Registered Clinical Scientists in Genomics; scientists close to registration will also be considered.
The scientist will be joining the team at the North Thames Rare Disease Laboratory Hub at Great Ormond Street Hospital. We are seeking enthusiastic, self-motivated scientists with experience of genomic service delivery and a sound understanding of molecular and cytogenetic techniques and analysis. Accomplished communication and organisational skills are required.
The successful candidate will join the postnatal team at the North Thames Rare Disease Laboratory Hub at Great Ormond Street Hospital. Experience of cytogenetic analysis and interpretation including karyotyping and copy number analysis is essential.
We support trained scientists who wish to adopt flexible and/or hybrid working patterns. For Clinical Scientists, after a successful probation period, there is a requirement to work on-site for 40% of working hours.
Main duties of the job
The Rare Disease Laboratory has an establishment of approximately 160 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. Having been awarded 11 specialisms in the NHSE Genomic Medicine Service, the laboratory provides an in-house diagnostic service for cancer, molecular and cytogenetic testing in accordance with the NHS England Genomic Test Directory. Cytogenetic testing is provided for both prenatal and postnatal samples using SNP microarray, karyotyping, FISH, and qPCR. Molecular testing includes next generation sequencing and 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 provide a DNA preparation and storage service in support of many of these projects.
Job responsibilities
The full job description provides an overview of the key tasks and responsibilities of the role, and the person specification outlines the qualifications, skills, experience and knowledge required. For both documents please view the attachment/s below.
Person Specification
* BSc Honours degree in an appropriate biological science with a substantial genetics component or alternative qualifications and equivalent experience
* HCPC Clinical Scientist Registration Certificate
Experience/Knowledge
* Experience working in a clinical diagnostics/genomics laboratory
* Extensive knowledge of clinical genomics and a demonstrable track record in the delivery of a diagnostic service
* Experience of writing clinical genetics reports
* Knowledge and experience of molecular variant classification in accordance with relevant guidelines including analysis of complex variants including CNV and structural variants from next-generation sequencing data
* Track record of scientific Publications/ presentations
* Experience in the analysis and reporting of whole genome sequencing data
* Evidence of supervising/training other staff
* Experience with laboratory information and quality management systems
Skills/Abilities
* Skilled in Next Generation Sequencing Applications / Sanger Sequencing and/or genomic CNV analysis by use of G banded chromosomes / FISH / Microarray
* Good organisational and interpersonal skills. Willing to adapt to changes in workflow and organisation
* Computer literate, including use of 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
* Background in cytogenetic and molecular procedures
Disclosure and Barring Service Check
This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975 and as such it will be necessary for a submission for Disclosure to be made to the Disclosure and Barring Service (formerly known as CRB) to check for any previous criminal convictions.
Salary and Contract Details
£54,320 to £60,981 a year per annum inclusive
Permanent
Full-time
Reference number
271-GEN-7120178
Job locations
Great Ormond Street Hospital for Children NHS Foundation Trust
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