JOB DESCRIPTION 1. JOB DETAILS Job Title: Reports to: Accountable to: Grade: Unit/Department: Location: 2. JOB PURPOSE 3. Registered Clinical Scientist (Molecular Genetics) Scientific Director of Molecular Genetics Scientific Director of the Molecular Genetics Clinical Scientist Band 7 Leeds Genetics Laboratory Leeds Teaching Hospital Trust (SJUH) Responsible for delivery and scientific development of a high quality diagnostic Clinical Molecular Genetics Service. Scientific lead in service provision for specified diseases. Provide advice to Consultants and other users. Participate in forming national best-practice policy. JOB DIMENSIONS Leeds Genetics Laboratory provides a diagnostic genetic services at a regional, national and international level. Over 10,000 referrals for molecular genetic testing are received per year , with over 6000 diagnostic reports generated. The post holder will independently discuss, advise and challenge clinicians and scientists, including Consultants (both from genetics and other disciplines), GPs and national Heads of Genetic Services on the complex interpretation of results which may be sensitive or contentious. This will involve working closely with the Scientific Director of the Molecular Genetics Laboratory, and other senior scientific and clinical colleagues. The post holder will provide input to ensure a high standard of service that is both cost effective and efficient. Working with the Translational Genomics Unit, a joint NHS and University resource, the post holder will use the latest technology to develop existing services and introduce new tests. The postholder will present scientific findings at national and international scientific meetings. They will be involved in formulation of national and international best practice guidelines for molecular genetic tests. In consultation with the Training Officer, the post holder will design and deliver training modules for trainee members of staff in areas of expertise. 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. 4. ORGANISATIONAL CHART Head of Pathology Services Head of Genetics Services Scientific Director of DNA Laboratory Deputy Director of DNA Laboratory Principal Clinical Scientists Registered Clinical Scientists Pre-registration Clinical Scientists Senior Genetic Technologists Genetic Technologists Assistant Genetic Technologists Clerical / Administrative Staff 5. KNOWLEDGE, SKILLS AND EXPERIENCE REQUIRED ESSENTIAL First Degree in a Biological subject with a strong genetics component, or equivalent. Postgraduate Certificate in Clinical Molecular Genetics or equivalent. Further qualification or knowledge equivalent to master’s level. Preparation towards Part I membership of the Royal College of Pathologists (FRCPath). Registration with Health Professions Council as Clinical Scientist in Genetics, Advanced theoretical knowledge of clinical molecular genetics including routine and specialised bioinformatic methods, quality assurance and problem solving. Knowledge of national, professional and NHS guidelines relating to service provision and quality. Recognise and highlight areas in their own work and others’ where there is a risk of clinical error. 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. 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. DESIRABLE 6. 7. Doctorate, or knowledge to equivalent level. Part 1 membership of the Royal College of Pathologists (FRCPath) 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 VALUES Quality focus: Maintenance of highest standards in laboratory tests and reports, with reference to best practice guidelines, National External Quality Assessment Scheme (NEQAS), Clinical Audit, Internal Audit and Clinical Pathology Accreditation. Respond to mistakes in a way which leads to learning and service improvement. Attention to detail: Observance of high laboratory standards; operating according to up to date Standard Operating Procedures. Patient orientation: Relating activities back to patient care; Clinical Audit. Demonstration of honesty, integrity, self-confidence and self-control. Open to change: Readiness to respond in a timely fashion to research, technological, strategic and financial change in this rapidly changing field. CORE BEHAVIOURS AND SKILLS shares information openly with other team members and works in partnership with others to solve a problem provides support and guidance to other team members listens to, values and acknowledges contributions from others supports and complies with team decisions 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 8. takes action to resolve issues within their own control makes active efforts to influence events impacting on their own work 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 shows tolerance and patience towards others fosters and maintains positive working relationships uses rational argument and data to persuade others manages conflict diplomatically and calmly deals sensitively with service users responds to users requests promptly takes user complaints seriously establishes and responds to user needs and requirements monitors and continuously reviews service processes and outcomes and looks for ways of improving service quality seeks and welcomes feedback and doesn't react defensively when confronted with mistakes or development needs 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 adapts speech to the appropriate level for audiences makes logical, soundly reasoned decisions, considering a range of possible alternatives 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 generates innovative suggestions and ideas to improve performance and build on others’ ideas including adapting existing processes and novel applications for existing systems, and introducing new processes 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 molecular mechanisms as described in current literature Knowledge of strategies and methods of cytogenetic and molecular genetic analysis, including financial implications 9. Knowledge of equipment used for automated genetic analysis, and understanding of other available equipment Understanding of clinical features of genetic diseases and counselling and ethical issues Understanding of services provided by other pathology departments, the organisation and 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 determine genetic risk PRINCIPAL DUTIES & AREAS OF RESPONSIBILITY Clinical Take personal responsibility for delivery of molecular 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 molecular analyses including PCR, Sanger sequencing, fluorescent mutation detection methods and Next Generation Sequencing. Ensure laboratory stocks are maintained, in particular in own areas of work. Preparation and documentation of laboratory reagents. Analyse and interpret results of tests, which may occasionally be highly complex or non-routine, and consider further investigations. For example, performing genotype/phenotype correlations, Bayesian and other risk calculations. Responsibility for validating results generated by laboratory staff ensuring internal quality control. Develop bioinformatics skills to process laboratory data, compare results and interpret data. Prepare patient reports. Perform genetic risk calculations as appropriate, taking national and professional guidelines or equivalent standards into account, based on information from the current literature and electronic resources. Ensure data is recorded accurately in databases for audit purposes. Keep accurate records of all clinically relevant email, telephone and verbal communications. Participate in ‘Duty Scientist’ rota. This involves gatekeeping all samples received, 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. Identify cases for discussion with Consultant Clinical Geneticists Identify and communicate with other UK and international genetic centres providing specialised services for rare genetic diseases with regard to patient testing. Perform DNA extractions for non-routine samples, e.g. prenatal samples. Independently discuss, advise and challenge Consultants and other users, on the appropriateness of tests and the interpretation of molecular genetics results, which may be complex, sensitive or contentious. Propose changes which may impact on policies within the molecular genetics laboratory and suggest changes which may impact outside, for example Clinical Genetics. Managerial Follow departmental Clinical Pathology Accreditation policy by producing and maintaining standard operating procedures. Suggest areas appropriate for laboratory internal audit, and perform specified audit activities. Responsibility for scheduling day-to-day case management of trainee scientists and practitioners including advice and troubleshooting. Provide direction and support for scientific and technical staff within the laboratory as required. Suggest and research laboratory equipment requirements, including IT hardware and software, and investigate appropriate suppliers taking into account cost, reliability, staff feedback and other factors. Organise and schedule staff meetings, including inviting external speakers. Scientific / Research and Development Present scientific findings at department, national and international scientific meetings. Responsibility for planning, performing, reporting and publishing research arising from laboratory investigations. Involvement in formulation of national and European best-practice guidelines by presentation and debate. Ongoing development of molecular genetics services for specific diseases, incorporating technological and scientific developments and re-addressing clinical need. Ensure service standards meet national guidelines, including UK National External Quality Assurance Scheme recommendations, in consultation with Quality Manager. Development of new services to national Genetic Testing Network in consultation with senior scientific staff. Maintain an up-to-date knowledge of clinical molecular genetics in general with particular reference to own caseload. Teaching and Training Participate in the teaching and training of personnel working in or seconded to the Department of Clinical Genetics; e.g. Trainee Heathcare Scientists and Practitioners, undergraduate project students, Registrars. Attend relevant scientific conferences and workshops. Attend and present literature and laboratory reviews. Be actively preparing for FRCPath Part 1 and maintain training record. Health and Safety/Risk Management All staff are responsible for working with their colleagues to maintain and improve the quality of services provided to our patients and other service users. This includes complying at all times with the Leeds Teaching Hospitals NHS Trust Policies, including Health and Safety policies, in particular by following agreed safe working procedures, and reporting incidents using the Trust Incident Reporting system. Equality and Diversity The jobholder must co-operate with all policies and procedures designed to ensure equality of employment. Co-workers, patients and visitors must be treated equally irrespective of gender, ethnic origin, age, disability, sexual orientation, religion etc. Training and Personal Development – Continuous Professional Development The jobholder must take responsibility in agreement with his/her line manager for his/her own personal development by ensuring that Continuous Professional Development remains a priority. The jobholder will undertake all mandatory training required for the role and take part in an annual performance review. Respect for Patient Confidentiality The jobholder should respect patient confidentiality at all times and not divulge patient information unless sanctioned by the requirements of the role. 10. COMMUNICATION & WORKING RELATIONSHIPS The post holder’s main communication channels will be: Within the Genetics Departments Head of DNA Laboratory Laboratory Management Team Laboratory Clinical Scientists and Medical Technical Officers Other DNA Laboratory support staff Head of Genetics Service Consultants and Specialist Registrars Genetic Counsellors Translational Genomics Unit Within the Trust but outside the department Consultants Other Medical Staff Pathology and Trust IT staff Outside the Trust Other Medical staff Leeds University and other research groups Clinical Molecular Genetics Society Clinical Scientists in other Molecular Genetics Laboratories The British Society for Genetic Medicine Royal College of Pathologists Manufacturers and suppliers 11. SPECIAL WORKING CONDITIONS The post holder will work for a substantial proportion of the working time in a clinical laboratory environment. As such, work will be under controlled conditions where chemical, biochemical and radioactive materials are handled. Under normal circumstances these hazards are contained, the post holder will be required to use appropriate personal protective equipment, and undergo appropriate training. There may be occasional exposure to uncontrolled hazards after spillage or leakage. The post holder will occasionally be exposed to highly unpleasant working conditions - processing of tissue/body fluids. There is occasional requirement for processing of high-risk biological specimens (eg hepatitis C, HIV). The post holder is required to travel between hospital sites to attend meetings approximately twice a month; there is also occasional travel to the Newcastle regional genetics laboratory (Genetic Laboratories, Yorkshire and Northern Collaboration partner). The post holder will occasionally attend national or international scientific meetings, at any UK venue, or further afield. 12. JOB DESCRIPTION AGREEMENT Jobholder’s Signature:………………………………… Date:……………………… Head of Department’s Signature:……………………… Date:……………………… Head of Department’s Job Title:………………………………………………………..