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Sheffield Diagnostic Genetics Service (SDGS) is a dynamic and dedicated team of over 100 professionals delivering core and specialist rare disease and oncology genomics services as part of the North East and Yorkshire Genomic Laboratory Hub (NEY GLH), in partnership with Leeds and Newcastle. From April 2024, SDGS has evolved into a focused 'dry' analysis and reporting department, receiving 'wet' lab work data/results from our partner laboratories. At Sheffield Children's, our purpose is clear: to provide healthier futures for children and young people. Our three strategic aims are Outstanding Patient Care, Brilliant Place to Work, and Leaders in Children's Health.
Job Responsibility
Deliver expert analysis and reporting of rare disease cases using QF-PCR, microarrays, karyotyping and WGS, following established policies and quality standards
Lead and manage a defined laboratory service, overseeing clinical delivery, development, staff support, clinician liaison and reporting
Work with the Lead Scientist to maintain and develop services across local, regional and national networks, ensuring effective communication with clinical teams and laboratory departments
Act as a designated quality lead (e.g., Audit or EQA), contributing to departmental, directorate and wider national/international quality structures
Check and countersign reports across multiple services, ensuring accuracy of results, validity of calculations and clarity and consistency of clinical interpretation
Requirements
Graduate in relevant good (2.2 or above) honours degree in science or additional postgraduate qualification if not appropriate degree
Registered in appropriate scheme for Healthcare Scientist
Post registration experience in Genetics over a range of services
Experience of service planning, development and delivery
Experience of management of some aspects of CPA
Broad practical and theoretical knowledge of Human Genetics with several areas of highly specialist skills and detailed knowledge
Knowledge of Health and Safety, quality management and CPA requirements in a laboratory environment
Very high level of technical and analytical skill including trouble shooting with complex systems
Excellent communication skills
Ability to train and develop staff in clinical science
Excellent organisational skills including meticulous record keeping
Ability to supervise and manage services, or groups of services, and meet tight deadlines where results may influence critical, potentially life-threatening treatment
Excellent team player and independent worker
Able to deal with confidential and emotionally stressful issues such as PreNatal Diagnosis and/or significant patient mortality