The Leeds Genetics Laboratory at St Jamess University Hospital provides a diagnostic Genetic Service to the population of Yorkshire and Humber and for the wider region as part of the North East and Yorkshire Genomic Laboratory Hub. Specialist diagnostic genetic services are provided at a national and international level, using a current annual budget of approximately £21million and with over 170 staff, of which 50 are Clinical Scientists. The laboratory processes over 30,000 genetics samples per year, and generates around 25,000 reports, many of which are highly complex. JOB PURPOSE Responsible for delivery and scientific development of a high quality diagnostic Laboratory Genetics Service. Scientific lead in service provision for specified clinical area. Provide advice to Consultants and other users. Participate in forming national best-practice policy. JOB DIMENSIONS The post holder will independently discuss, advise and challenge clinicians and scientists, including Consultants (both from genetics and other disciplines) and GPs on the complex interpretation of results which may be sensitive or contentious. The post holder will provide input to ensure a high standard of service that is both cost effective and efficient. This includes suggestions towards decisions on purchase of items of equipment, reagents or software valued up to £150,000, for example, specialised genetic analysers. There will be close day-to-day working relationship with the Translational Genomics Unit (joint NHS and University facility), the University of Leeds, histopathology, the Haemological Malignancy Diagnostic Service (HMDS) and other pathology departments within LTHT, including shared use of space, equipment and other facilities. The post-holder will present scientific findings at national and international scientific meetings. They will be involved in formulation of national and international best practice guidelines for genetic tests. The post holder will be responsible for the mentoring and training of Clinical Scientist (clinical genetics) STP trainees. There is a teaching relationship with the University of Leeds and the post holder may contribute towards supervision of project work of Biology and Medical undergraduates KNOWLEDGE, SKILLS AND EXPERIENCE REQUIRED ESSENTIAL First Degree in a Biological subject with a strong genetics component, or equivalent. Further qualification or knowledge equivalent to masters level. Preparation towards Fellowship of the Royal College of Pathologists in Genetics or Molecular Pathology. Registration with Health Professions Council as Clinical Scientist in Genetics, submodality Molecular Genetics or Cytogenetics. Advanced theoretical knowledge of clinical genetics and/or molecular pathology including routine and specialised analytical methods, quality assurance and problem solving. Knowledge of national, professional and NHS guidelines relating to service provision and quality. Understanding of health and safety procedures/issues. Understand issues relating to financial management, resource allocation and procurement. Advanced analytical (technical) and interpretative skills and ability to analyse complex situations. Well-developed deductive and intuitive abilities. To take personal responsibility for own decisions and advice. Able to use and manipulate laboratory computer systems and standard software packages. Able to work as part of a team, and recognise how personal goals relate to those of the department and Trust. Good oral and written communication skills including teaching. Able to prepare and present complex scientific and clinical information at local, national or international conferences. Able to maintain concentration for prolonged intervals on complex activities despite frequent interruptions. Able to establish and maintain effective networks with professional and clinical colleagues within and beyond the Trust. Good hand eye co-ordination for fine manipulation of instrumentation. To maintain self control in difficult and challenging situations. Able to troubleshoot under pressure, for instance while performing prenatal or predictive tests for adult-onset genetic diseases, with limited reporting timescales. Able to identify R & D needs in own area and participate in R & D activities. Able to participate in internal audit activities. Able to participate in clinical audit and present reports. Able to relate service provision to national best practice guidelines. DESIRABLE Doctorate, or knowledge to equivalent level. Part 1 Fellowship of the Royal College of Pathologists. To have demonstrated specialist knowledge at a national or international level. Involvement in formulation of national, professional and NHS guidelines relating to service provision and quality. Experience of membership of committees at and national level. CORE BEHAVIOURS AND SKILLS Shares information openly with other team members and works in partnership with others to solve a problem. Open to new approaches and copes with changing targets. Helps others to adjust their behaviour to changing circumstances. Develops and initiates strategies in response to change. Makes active efforts to influence the work of the team, takes responsibility for making appropriate decisions. Relates well to people at all levels and backgrounds. Uses rational argument and data to persuade others. Manages conflict diplomatically and calmly. Establishes and responds to user needs and requirements. Monitors and continuously reviews service processes and outcomes and looks for ways of improving service quality. Consistently attempts to try learning in the workplace and from experiences. Develops and maintains effective networks. Makes conscious choices about their own personal development identifies their own strengths and weaknesses and orchestrates appropriate development opportunities. Delegates appropriate tasks and responsibility. Allows others the authority to accomplish tasks effectively. Makes effective presentations and speaks confidently in front of a group, including large group or audience, and at national and international meetings of peers. Consults appropriately and seeks relevant information, including financial, before making recommendations. Remains objective and rational when dealing with emotive issues. Sets deadlines and timescales for managing their own workload. Plans actions to achieve objectives to schedule and produces detailed project plans Anticipates problems and difficulties and makes contingency plans. Understands the long term strategy and objectives of their own department taking into account of the strengths and weaknesses of the organisation. Stands up for their own point of view, even against opposition, and speaks with Sincerity and conviction. Shows enthusiasm for their own initiatives and acknowledges their own successes. CORE KNOWLEDGE AND UNDERSTANDING Advanced knowledge of specified range of genetic diseases and disease mechanisms as described in current literature. Knowledge of strategies and methods of molecular genetic analysis, including financial implications. Knowledge of equipment, bioinformatics tools and analysis pipelines used for genetic testing and analysis, Understanding of clinical features of inherited an/or somatic genetic diseases and counselling and ethical issues. Understanding of services provided by other pathology departmentsand other genetic centres. Knowledge of internal and external quality assurance and national and international best practice standards. Understanding of health and safety procedures. Understanding of department and Trust policies and procedures. Knowledge of IT resources in relation to genetic diagnosis, including bio-informatics. Knowledge of mathematical approaches to interpret genetic data and determine genetic risk. PRINCIPAL DUTIES & AREAS OF RESPONSIBILITY Take personal responsibility for delivery of laboratory scientific genetics service for specific diseases and others as required. Determine appropriate tests for individual cases. Prioritise testing and reporting to ensure reporting targets are met for all samples, including urgent predictive and prenatal tests. Liase with technical staff. Perform laboratory technical work as required, for example as part of a development project or troubleshooting of services. Ensure laboratory stocks are maintained, in particular in own areas of work. Analyse and interpret results of tests, which are often be highly complex or non-routine, and consider further investigations. For example, variant classification and risk calculations. Responsibility for validating results generated by laboratory staff ensuring internal quality control. Use of specialist bioinformatics tools to process laboratory data, compare results and interpret data. Interpretation of genetics results in the context of patient phenotype, published literature, databases and other pathology tests. Be able to use these results to write clinically relevant interpretation as part of a integrated report., taking national and professional guidelines or equivalent standards into account. Ensure data is recorded accurately in databases. Keep accurate records of all clinically relevant email, telephone and verbal communications. Participate in Duty Scientist rota. This involves gatekeeping all samples received, prioritisation, co-ordinating DNA extractions with technical staff, performing data checks, ensuring appropriate action for all samples, and acting as primary contact for scientific and service enquiries.