JOB DESCRIPTION. Clinical Scientist. Molecular Genetics, Genetics Centre. Molecular Genetics, Genetics Centre, Viapath, Guy s Hospital

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1 JOB DESCRIPTION JOB TITLE: Clinical Scientist GRADE: Band 7 DEPARTMENT: LOCATION: RESPONSIBLE TO: Molecular Genetics, Genetics Centre Molecular Genetics, Genetics Centre, Viapath, Guy s Hospital Molecular Genetics Operation Lead Viapath Viapath is a scientific organisation with a clinical purpose. In partnership with our service partners, Guy s and St. Thomas Hospitals, King s College Hospital and Bedford NHS Hospital Trusts, we aim to set the standard for the future of pathology. Job Summary The post holder will participate at a senior level in all aspects of the work of the Laboratory. They will participate in the development of new diagnostic tests by next generation sequencing by either performing or supervising the design, evaluation, and completing clinical governance documentation. They will perform the analysis of molecular laboratory tests for the diagnosis of inherited disorders such as Duchenne muscular dystrophy, congenital muscular dystrophies and myopathies, inherited predisposition to breast cancer, motor neurone disease and spinal muscular atrophy. They will be responsible for the final checking and authorisation of a proportion of the Laboratory s reports, and for ensuring that the laboratory tests and reports are completed to a high standard within target reporting times. They will have a wide knowledge of clinical molecular genetics, and will undertake continual professional development activities to keep up to date and help to ensure that the laboratory services are up to date with current scientific developments. KEY RELATIONSHIPS The post holder will work with all members of the DNA Laboratory, which comprises Clinical Scientists, Medical Technical Officers (MTO), Medical Laboratory Assistants (MLA), Admin and Clerical staff. He/she will also liaise with staff in other Genetics and Pathology Laboratories. Management and Leadership The post holder will manage duties performed by the MTOs and MLA and report to the Operations Lead and Deputy Lead of Monogenics. Financial responsibilities

2 The post holder will liaise with the Procurement department and external suppliers regarding orders and contracts for the DNA Laboratory. Information management The post holder will liaise with external suppliers and the IT department regarding maintenance of equipment and IT. Education & Professional Development. The post holder will be expected to join and maintain membership of the Health and Care Profession Council (HCPC), which requires the post holder to undertake and provide evidence of continuing professional development. Duties and Responsibilities 1. To participate at a senior level in all aspects of the work of the Laboratory, including receipt of samples, test development, laboratory testing, interpretation of results, administration, staff training and supervision. 2. To be responsible for monitoring a proportion of referrals to the Laboratory, including sorting new forms, decide which action should be taken for each specimen and documenting this on the paperwork. Ensure that urgent samples are given priority. Check that referrals are appropriate. Discuss problems / queries with the referring clinicians and/or clinical staff within the department, as appropriate. 3. To be responsible for organising and performing specific laboratory work (which may rotate among other laboratory staff), and be prepared to perform basic laboratory duties if necessary. 4. To perform extraction of DNA and RNA from blood and other human tissue samples using an automated DNA extractor, and manual protocols, as required. 5. Perform mutation detection techniques such as PCR, MLPA, multiplex PCR, RT- PCR, automated fluorescent sequencing, Southern blot analysis, array CGH and Next Generation Sequencing. 6. Use of robotic liquid handlers for PCR and sequencing setup, product cleanup, making dilutions, etc. 7. Perform analysis of molecular test data, including identification and classification of sequence variants, genotyping results and any other data as indicated. Perform interpretation of results in the context of the clinical referral, and documenting the findings in clinical reports. 8. Be responsible for final checking of results such as DNA sequencing and genotyping. 9. To be responsible for the final checking and authorisation of a proportion of reports written by the laboratory. This includes checking the accuracy and interpretation of results, the information on the database and the final wording of reports. Assist in the writing of reports when required and be able to check and/or perform risk calculations where appropriate. 10. To allocate and supervise the work of assigned members of the Laboratory, including Technical Officers and Pre-registered Scientists.

3 11. To assist with the training of members of the Laboratory, including preregistered Scientists, Trainee Scientists, Technical Officers and visitors to the Laboratory. 12. To share the role of Prenatal Co-ordinator for the Laboratory, on a rota system. The Prenatal Co-ordinator will be responsible for organising all aspects relating to prenatal tests carried out by the laboratory and prenatal samples forwarded to other centres for testing. This requires extensive communication with the clinical referring centre, and the laboratory personnel undertaking any testing. 13. Respond to written and verbal enquires from users of the service. Offer advice on the availability of appropriate tests, type of samples required and interpretation of results. Search appropriate service directories, internet resources and/or literature and contact national and international scientists to answer enquiries about rare genetic disorders. 14. Communicate with other DNA diagnostic laboratories when necessary. Organise sharing of data and/or samples when appropriate. 15. To participate at a high level in internal and external meetings and other learning activities (e.g. weekly lab meetings, departmental seminar series, departmental journal club, ACGS/BSGM meetings) and keep up to date with current knowledge in clinical molecular genetics, particularly relating to the disease(s) covered by the post holder. 16. Assist with troubleshooting in the laboratory if necessary. 17. Checking of genotypic data generated by Trust colleagues in the diagnostic DNA laboratory. 18. Participation in research and development to improve the efficiency of existing diagnostic tests and set up new diagnostic services. 19. Present laboratory findings at appropriate meetings, seminars and through publications. 20. Participation in external and internal quality control programmes. 21. Adherence to Association of Clinical Genetic Science (ACGS) and other organisations appropriate best practice guidelines. 22. Organisation and completion of work in a timely and orderly manner, being aware of and maintaining target reporting times for referrals for which the post holder has responsibility. Completion or delegation of appropriate duties before taking annual leave. Annual leave is not to be taken at the same time as the back-up person for the duties(s) covered. 23. Strict adherence to the Laboratory s standard operating procedures and maintenance of up to date standard operating procedures for the duties assigned. Strict adherence to the guidelines in the standard operating procedures for avoiding sample mix-up. This includes the use of checklists at all appropriate

4 24. stages of a procedure and performing appropriate sample checks and signing checklists for colleagues when required. 25. Maintain knowledge and skills as identified by the appraisal cycle, and participate in an annual appraisal with a senior member of the Molecular Genetics Lab appointed by the Head of Laboratory. 26. Strict adherence to the Departmental Health & Safety regulations & Codes of Practice. 27. He/ she should aim to become an expert in a particular field of clinical molecular genetics and act in an advisory capacity on that subject for members of the Laboratory and other Health Professionals. 28. Although the Department is based at Guy s, the post holder may be required to work at any other Viapath site. 29. Participate in the review of local policies and procedures, COSHH and workplace risk assessments. 30. Maintain HPC registration and undertake Continual Professional Development 31. Ensure standards as required by the ISO15189 are maintained and where possible improved upon. 32. Be proactive in escalating any possible issues that may impact on service delivery to senior colleagues 33. Undertake mandatory training as required by Viapath 34. Undertake a period laboratory training and competence assessment 35. To participate in an annual appraisal cycle, and be assessed against competences of the role. 36. Maintain knowledge and skills as identified by the appraisal cycle 37. Observe and adhere to local and national health and safety policies 38. Maintain and promote the image of Viapath Analytics 39. Observe and adhere to local and National Health & Safety policies. General The post holder may be required to carry out other duties in line with the grading of the post. The job description may be subject to change and, if so, this will take place in consultation with the post holder. Confidentiality The post holder must maintain the confidentiality of information about patients, staff and Health Service business in accordance with the Data Protection Act (1984).

5 Equal Opportunities The post holder must at all times carry out his/her responsibilities with regard to the Equal Opportunities Policy. Health and Safety Employees must be aware of the responsibilities placed on them under the Health and Safety at Work Act (1974), to ensure that agreed safety procedures are carried out to maintain a safe working environment for patients, visitors and employees. Smoking Policy It is the policy to promote health. Smoking, therefore, is actively discouraged and is prohibited in the majority of the hospital, including offices. However, there are designated smoking areas on both sites. Data Protection Act All employees must not, without prior permission, disclose any information regarding patients or staff. In circumstances where it is known that a member of staff has communicated such information to an unauthorised person, those staff will be liable to dismissal. Moreover, the Data Protection Act (1984) also renders an individual liable to prosecution in the event of unauthorised disclosure of information.

6 PERSON SPECIFICATION Requirements (The requirements for a person specification can be divided into the categories shown below:-) Education Attainment/ Qualifications ESSENTIAL BSc in an appropriate biological science HCPC state registration (Clinical Molecular Genetics) DESIRABLE Higher degree in Biological Science Evidence of CPD/active participation in scientific meetings Experience required Ability to interpret complex scientific data and design laboratory experiments Experience in a variety of molecular biology techniques, mutation detection and troubleshooting Experience of writing clinical diagnostic reports Experience of NGS data analysis and accompanying sequence variant interpretation. Skills and Aptitudes/ Knowledge/ Ability Comprehensive knowledge of principles of molecular biology and clinical molecular genetics. Knowledge and application of Quality Control and compliance with ISOS15189 Experience of lab supervisory work Up-to-date knowledge and experience of the application of bioinformatics and variant analysis software for NGS analysis. Excellent organisational/ planning skills

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