Principal Clinical Scientist (Molecular Genetics)
1. JOB IDENTIFICATION
Job Title:
Principal Clinical Scientist (Molecular Genetics)
Responsible to :
Deputy Director of Service (Molecular Genetics)
Department(s):
South East Scotland Molecular Genetics Service
Directorate:
Laboratory Services, Clinical Support Services
Operating Division: LUHD
Job Reference:
U-CN-LAB-MOL-PCS
No of Job Holders: 1 of 1
Last Update
24/10/2013
2. JOB PURPOSE
The Principal Clinical Scientist is a manger responsible for providing a regional and national specialist
scientific Molecular Genetics Service. They will be responsible for day-to-day co-ordination and
management of Clinical Scientists, trainee Molecular Geneticists and clerical staff applying quality
standards and quality control procedures compliant with current guidelines and legislation. They will
perform as a trained, State Registered Clinical Scientist, authorising reports for the complete
laboratory test repertoire and will undertake additional roles nationally to contribute to the molecular
genetics profession. They will provide a wide range of molecular genetic tests for inherited disorders
guided by clearly defined policies and procedures providing advice to clinicians and other healthcare
professionals on the appropriateness of testing and the interpretation of results. They will direct
service developments in consultation with the Director and Deputy Director of Service with
responsibility for a range of administrative duties within the laboratory, including the evaluation and
acquisition of laboratory equipment. They will assume responsibility for the co-ordination of the trainee
Clinical Scientist and pre-registration Molecular Geneticist training programmes.
3. DIMENSIONS
Given the highly specialised nature of the tests it performs, the molecular genetics service is staffed mostly
by State registered Clinical Scientists and pre-registration Molecular Geneticists with technical support
being provided by Genetic Technologists led by a Laboratory Manager and supported by medical
secretaries. The lab’s quality systems are the responsibility of the Quality Manager. The service has an
annual budget in excess of £1,200 000. The Director of Service manages the budget for this regional and
national speciality and is its professional lead.
The South East Scotland Molecular Genetics Service currently comprises:
 1 band 8D Consultant Grade Clinical Scientist (1.0 WTE)
 1 band 8B Principal Clinical Scientist (1.0 WTE)
 1 band 8A Principal Clinical Scientist (1.0 WTE) (THIS POST)
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1 band 7 Quality Manager (0.8 WTE)
5 band 7 Registered Clinical Scientists (4.2 WTE)
2 band 4 Medical Secretaries (2.0 WTE)
1 band 7 Laboratory Manager (1.0 WTE)
1 band 6 Genetic Technologist (1.0 WTE)
2 band 5 Genetic Technologists (4.0 WTE)
1 band 3 ABSW (1.0 WTE)
1 band 3 Laboratory Assistant (0.4 WTE)
4. ORGANISATIONAL POSITION
Genetics Executive
(Head of Service)
Consultant Clinical Scientist
(Director of Molecular Genetics
Lab)
Deputy Director of Lab
Principal Clinical Scientist
(this post)
Registered Clinical
Scientists
Trainee Clinical
Scientists
5. ROLE OF DEPARTMENT
The South East of Scotland Genetics Service (clinical genetics, molecular genetics and cytogenetics) is a
nationally and internationally acclaimed unit. The laboratory is part of the NHS Lothian Laboratory
Medicine Directorate which provides laboratory services to primary and secondary care centres within and
beyond Lothian. These services are currently delivered from 4 sites; the Western General Hospital (WGH),
the Royal Infirmary of Edinburgh (RIE), St Johns Hospital Livingston (SJH) and the Royal Hospital for Sick
Children (RHSC).The laboratories receive over 2 million requests and 7 million tests per annum, and
employ some 503 staff. Laboratories provide a 24/7 clinical and medical laboratory service and a
comprehensive range of investigations including decentralised testing sites. The laboratories are well
equipped, fully computerised and accredited by CPA (UK) Ltd.
The laboratories collaborate in a range of research and development and clinical audit projects
with clinicians, other Healthcare professionals and drugs/diagnostic companies.
There are a total of four Regional Genetics Services in Scotland of which Glasgow and Edinburgh
are the largest. The laboratory provides comprehensive molecular genetics services to a
population of approximately 1.3 million in the South East Scottish Region.
The Department actively develops, implements and participates in many research trials locally,
nationally and internationally, adding to the reputation of the LUHT.
The Department provides specialist education and training programmes for health care
professionals and other professional groups locally, nationally and internationally. In addition to
acting as a significant education resource for the general public.
The Department is a nationally recognised and nationally funded training centre for preregistration clinical scientists.
6. KEY RESULT AREAS
The Principal Clinical Scientist takes responsibility for the work of the laboratory which involves the
following duties and responsibilities:
Clinical and Professional
 To manage and/or undertake molecular genetic investigations for a broad range of referral criteria
(as part of the laboratory’s rotation system), identifying the appropriate test(s) and testing strategy
for routine and non-routine highly specialist molecular genetic tests. In addition, to be personally
responsible for the time management of multiple tasks as described in the job description and to
respond to the changing requirements of laboratory by accommodating additional tasks and
responsibilities as required.
 To correctly interpret and report the results of tests (including those carried out by junior clinical
scientists and technical staff). This may include complex statistical analysis or the use of
probability calculations to provide a risk estimate.
 Clinically authorise reports, provide written interpretative comments and advice for inclusion within
patient records.
 Independently discuss and advise clinicians and other healthcare professionals on the
interpretation of all molecular genetic investigations. This includes the selection, performance and
interpretation of clinically relevant tests and advice on differential diagnoses, monitoring, treatment
and therapy changes.
 To have specialist skills in the scientific and clinical interpretation of results and technical data,
advising other members of staff.
 To preserve the confidentiality of patient, laboratory and clinical information taking into account the
sensitive and emotional nature of genetic test results.
 To manage and organise the sending of samples to other laboratories, including associated record
keeping, and supervision of an administrative assistant.
 To assist in all other aspects of the work of the laboratory, including administration, policy and
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procedure updating, and equipment maintenance.
To adhere strictly to the departmental policy and Standard Operating Procedures designed to
minimise the risk of sample mix-up and maintain an accurate record of all work. This includes the
use of checklists at all appropriate stages of a procedure and performing appropriate sample
checks for colleagues when required.
To be aware and follow the current regional and national policies and legislature and UK
Professional guidelines for molecular genetics.
To follow Health and Safety and COSHH regulations, protocols and policies of the laboratory.
To undertake any extra duties that may be reasonably required by the Director or Deputy Director
of Service.
Managerial
 To co-ordinate the work of all staff in the laboratory on a day-to-day basis according to the
demands of the laboratory and the knowledge and experience of the member of staff, e.g. ensuring
that urgent samples are extracted, tested and reported appropriately (as agreed with the Director
of Service).
 To contribute to regular laboratory policy review and to implement changes/revisions as a result of
review. To contribute to the collection of data for auditing and contracting purposes.
 To be responsible for the procurement of equipment and supplies for the laboratory. Liaise with
representatives, monitors standing orders and is involved in large capital equipment purchasing
and evaluation.
Scientific
 To choose and perform a variety of highly specialised techniques, such as fluorescent sequencing,
quantitative fluorescent PCR, Southern blot analysis, fluorescent fragment analysis, MLPA, protein
truncation test, as required to provide the service.
 To demonstrate and apply a thorough understanding of the scientific principles involved in the
delivery of a Molecular Genetics Service for the above disorders, including trouble shooting of
existing assays.
 Develop clinical guidelines for testing strategies and the development of clinical protocols within
the department and the South East of Scotland.
 Attend and participate at local, national and international scientific and clinical meetings in order to
maintain knowledge and acquire new skills for continuing service development.
Research and Development
 To have responsibility for research and development designed to improve the efficiency of existing
diagnostic tests and set up new diagnostic services. To have responsibility for the validation and
implementation of the improved tests or new service.
 To initiate clinical audit, organising and monitoring internal and external quality control in
consultation with the laboratory quality manager.
Information Management
 To maintain and update laboratory databases of clinical referrals, results and reports. To develop
databases or spreadsheets when required.
 To be responsible, on a rotational basis, for checking the logging of specimens into the laboratory
database. To check that the correct disease and action has been entered, as well as the
appropriate extraction procedure. To check the appropriateness and urgency of the sample. To
discuss problems/lack of clarity with the referring clinical staff.
Training and Education
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To help co-ordinate the training of trainee Clinical Scientists, pre-registration Molecular Geneticists
and when required laboratory technical staff. Also to manage, supervise and design appropriate
projects for undergraduates/SpRs/MSc, PhD students and visiting healthcare professionals. This
will include the generation of training programmes, portfolios, and other required documentation
and facilitating the ability of all trainees to carry out their work in a safe and productive way.
Help to co-ordinate STP trainees from other laboratories to visit the laboratory for their
secondment period if necessary.
To develop the skills and knowledge of other staff in the laboratory either personally or by referral
to appropriate training courses.
To present the results of service development or audit work to colleagues at internal, national and
international meetings.
To take part in Continuing Professional Development activities (e.g. attending directorate
seminars, journal clubs, attending local/national/international meetings and conferences, periodic
literature reviews and hospital training sessions) to acquire new knowledge and skills for service
and personal development.
Human Resources
 Be responsible for the day-to-day management of the staff of the South East Scotland Molecular
Genetics Service. These responsibilities include in consultation with the Director and Deputy
Director of Service: disciplinary and grievance procedures, recruitment and selection decisions,
workload allocation and quality monitoring.
 Ensuring training and professional development of trainee Clinical Scientists, Pre-registration
Molecular Geneticists and technical staff.
 Ensuring an excellent quality of service by providing leadership, maintaining high staff morale and
excellent interpersonal communications.
7a. EQUIPMENT AND MACHINERY
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Personal Computer to produce worksheets, reports and also to communicate, extract and record
information. For the analysis of complex data and validation of results using specialist software or
spreadsheets.
Photocopier to duplicate information.
Fax Machine for sending and receiving documents.
Telephone for communication both internally and externally
Basic laboratory equipment including automatic pipettes (single and multi-channel), balances and
other standard equipment for the production, validation, storage and dispensing of laboratory test
reagents and standard solutions.
Biological safety cabinet for the safe handling of human tissues for the preparation of nucleic
acids.
Analytical centrifuges and micro-centrifuges.
Electrophoresis equipment for the fractionation and analysis of nucleic acids.
Thermal cyclers for the amplification of DNA from nucleic acid sources.
Complex and extremely expensive analytical equipment such as capillary and gel based DNA
analysers for the sizing and sequencing of amplified patient DNA.
Microbiological culture equipment (orbital incubators, incubators type II biological specimen
handling cabinets) for the preparation and propagation of recombinant probe materials.
Image analysis systems and photographic systems for the capture of data.
7b. SYSTEMS
Use of:
The dedicated specialist departmental Laboratory Information Management Systems on a daily basis for:
 Inputting patient and specimen information.
 Composing and generating reports.
 Clinical audit.
 Stock and batch control systems.
 Searching for patient test information and simple/complex audit to produce standard and non-standard
reports.
 Datix Incident reporting.
 eKSF to monitor staff performance.
Personal computer for:
 Accessing medical and scientific Websites to research information relating to molecular genetic test
outcomes to enable a technical interpretation of results for the clinician and also for Continuous
Personal Development.
 Electronic data storage e.g. MS Office used for obtaining, inputting, searching, updating and producing
information.
 Accessing the e-library to identify pertinent scientific literature.
 Use of Empower and SSTS to manage staff attendance.
 Specialist genetic analysis software for: DNA sequence data screening and statistical analysis of
trends and results.
Maintenance and production of:
 Patient records, updating disease specific database including the generation of pedigree data for high
and moderate risk families using the Cyrillic programme.
 Lab databases and disease specific databases.
 Written standard operating procedures for new tests and revised tests.
8. ASSIGNMENT AND REVIEW OF WORK
The Director of Service (Consultant Clinical Scientist) is responsible for the long term strategic
planning of diagnostic testing and screening programmes. The Principle Clinical Scientist should aid
the Deputy Director with the day-to-day running of the laboratory.
The Principal Clinical Scientist:
 Writes Standard Operating Procedures for the laboratory in consultation the Director of Service.
 Works towards annual work objectives which are agreed with the Deputy Director of Service and
informally reviewed throughout the year.
 Aids in producing and revising the training programme for trainee Clinical Scientists in consultation
with the national training assessment board.
 Autonomously undertakes any molecular analysis and checks the work of other scientific and
technical staff according to the policies of the department and the Professional Guidelines issued
by the Clinical Molecular Genetics Society.
 Checks, authorises and validates new test reagent batches prior to general laboratory use,
ensuring standards are maintained from batch to batch.
 Autonomously authorises all report types generated in the laboratory only consulting with the
Director or Deputy Director of Service for unexpected results or highly unusual cases.
 Initiates relevant searches of the scientific and medical literature when an unexpected or highly
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unusual result is identified. Then initiates and manages any further testing required following
informal consultation with the Director or Deputy Director of Service
Participates in the weekly lab meeting where progress is reviewed. The whole team attends this
meeting and quality issues, changes to protocols and changes to working practices are discussed
and any further steps initiated.
Is appraised and undertakes staff appraisals annually as part of the staff appraisal scheme.
9. DECISIONS AND JUDGEMENTS
The post holder is part of the management team for the South East of Scotland Molecular Genetics
Service. This includes responsibilities involving recruitment (job descriptions, selection and interviews
for clinical scientists, technical staff, trainees) and preparation for Clinical Pathology Accreditation
(CPA) in consultation with the lab quality manager.
The post holder is a Principle Clinical Scientist in the South East of Scotland Molecular Genetics
Service. This includes responsibilities involving:
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Assessing the clinical information from the regional diagnostic laboratory system to decide whether
Molecular Genetic studies for a sample are appropriate or not.
Analysis and reporting of samples, ensuring priority of individual samples dependent upon special
requests or outcomes.
Determining the clinical significance of any variants detected.
Appropriate wording on clinical reports to express clearly and comprehensively the clinical
significance of analytical findings for the patient and patient’s family.
Validating and authorising final reports prior to their issuing.
Clinical explanations of complex outcomes to clinical consultants which may result in a termination
of a pregnancy, a change of treatment being given, or in the need for extended family studies to be
undertaken.
Deciding whether supplementary tests require requests to be sent to other laboratories in the UK
or abroad.
Aid in structuring and implementing training programmes for staff and trainees and adapting
programmes to suit the individual requirement.
10. MOST CHALLENGING/DIFFICULT PARTS OF THE JOB
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Working to very demanding Professional Standard Guidelines. These cover both the necessary
quality of the work undertaken and also the acceptable turn-around times.
Analysis of some samples is very challenging, requiring long periods of time to be spent
performing DNA sequence data interpretation and risk calculations.
Knowing that errors in either analysis or interpretation will lead to serious clinical consequences,
e.g. the termination of a normal baby, or the birth of a severely handicapped child.
The acquisition and maintenance of knowledge relating to all the laboratory procedures,
equipment manuals, local and regional policies.
The acquisition and maintenance of specialist molecular genetic and relevant medical knowledge,
which must be constantly refreshed.
Participation in continuous personal development where there are time constraints due to routine
service commitments.
Performance, interpretation and reporting of potentially very highly complex test, which may have
a lifelong impact on the patient and their relatives. Managing time effectively, prioritising work to
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meet competing demands.
Managing and motivating staff.
11. COMMUNICATIONS AND RELATIONSHIPS
Principal Clinical Scientists:
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Need to be able to compose reports, retrieve previously authorised reports, and then interpret and
communicate to referring clinicians both orally and in a written form.
Interact with service users in highly distressing situations, such as the diagnosis of Down
Syndrome in a fetus.
Present data, reports and give presentations at internal departmental meeting and to large national
scientific meetings.
Participate in multi-disciplinary clinical case meetings.
Must respond appropriately to any enquiry (telephone, email or written).
Present clinical case reports, clinical audits and research and development data both to local
groups and at national and international scientific meetings.
Explain procedures and reports accurately and concisely and also to demonstrate techniques to
other members of staff for training purposes.
Explain and elaborate on the relevant policies guiding the work in the molecular genetics
department.
Liaise with the quality manager for issues relating to Clinical Pathology Accreditation.
Regular communication with staff in training including documentation of progress.
12. PHYSICAL, MENTAL, EMOTIONAL AND ENVIRONMENTAL DEMANDS OF THE JOB
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The primary emotional demand is the stress of ensuring accurate diagnosis of inherited conditions
and unambiguous and accurate interpretation to the referring clinician.
The handling of patient records maintaining patient confidentiality whilst liasing with multiple
healthcare professionals is particularly demanding in clinical genetics cases as results from one
patient often influence risks to other family members.
The stresses associated with highly complex data analysis including the validation of previously
undescribed variants or changes. The need to handle very large and complex data sets to issue
final reports from a range of different procedures.
Emotional stress associated with diagnosing terminal conditions and reporting laboratory results
that lead to the termination of pregnancy.
A laboratory is a busy environment, which makes demands on the concentration.
In the laboratory a very high level of manual dexterity with excellent hand to eye co-ordination is
required. Often highly intricate work using tiny volumes in single and multi-channel micro pipettes
is required.
DNA sequence analysis requires prolonged periods (up to 3 hours) of intense concentration; there
is little opportunity for exercise during these periods.
Regular use of extremely expensive (>£100 000) and very fragile equipment.
Frequent use of a VDU.
Multi-tasking is essential for efficient management of the molecular geneticist’s time; this also
requires concentration to ensure no errors are made.
The specimens can be from various sources some of which can be distressing (for example
recognisable fetal parts).
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There are potential hazards (risk of infection) associated with frequent handling of hazardous
biological specimens of an unpleasant nature such as blood, cultured cells, mouthwashes,
products of conception and biopsy tissues.
There are potential hazard associated with reagents which are used in the laboratory, which can
be carcinogenic, toxic or mutagenic if handled inappropriately. The risks are not just for the person
handling the specimen or substance but also to their colleagues.
Stress of imparting bad news (staffing issues, rotas, refusing holidays, disciplining staff).
Unpredictable work pattern, prioritising urgent referrals.
13. KNOWLEDGE, TRAINING AND EXPERIENCE REQUIRED TO DO THE JOB
First or Second Class Honours degree in a biological science.
A post graduate professional qualification in Clinical Molecular Genetics (Certificate of Competence in
Clinical Molecular Genetics - a two year training course run by the Clinical Molecular genetics Society)
or equivalent experience OR relevant PhD and experience externally assessed as being equivalent.
Registration with the Health and Care Professions Council as a Clinical Scientist.
FRCPath part 1 and be working towards FRCPath part 2.
Maintenance of registration via continuous professional development and compliance with directives
from the Health Professions Council.
Detailed knowledge of the Laboratories Standard Operating Procedures and Policies.
Specialist scientific and clinical knowledge relevant to Molecular Genetics.
14. JOB DESCRIPTION AGREEMENT
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Job Holder’s Signature:
Date:
Head of Department Signature:
Date: