Job Title: Bioinformatician / Clinical Scientist

Directorate: Genetics

Department: Laboratory Genetics

Professionally accountable for: N/A

Responsible to: Consultant Clinical Scientists, Head of Bioinformatics Team

Accountable to: Director of West Midlands Regional Genetics Laboratory

Pay band: Agenda for Change Band 7

Location: Birmingham Women’s Hospital, Regional Genetics Laboratory

Hours of Work: 37.5 per week

Contract: Permanent

On call requirement: No

Disclosure required: Standard

Professional Registration: Yes – with the HCPC

Job Description and Person Specification

Job outline:

To provide Bioinformatics skills and resources to the West Midlands Regional Genetics Laboratory. To be personally responsible for his/her own work, working with a high degree of autonomy, subject to the supervision and direction of the Bioinformatics lead or other designated senior staff. To be part of a bioinformatics team responsible for the delivery of core bioinformatics including the development, testing, validation and implementation of analytical pipelines required to analyse NGS data for a broad range of clinical diagnostic and research applications, such as targeted and exome sequencing as well as copy number analysis. To be part of a bioinformatics team responsible for the development, testing, validation and implementation of bioinformatics tools required to analyse data from other relevant technologies. To be part of a bioinformatics team responsible for web development including front end databases. To be part of a bioinformatics team responsible for writing new algorithms as required. To be part of a bioinformatics team responsible for database design and information structure (computer science). To be part of a bioinformatics team responsible for business analysis including process mapping and interfacing with the customer (e.g. clinical scientist, clinician, business support) and a team of developers to produce essential software applications. To support and train healthcare scientists and clinicians in the use of bioinformatics tools required to interpret data from NGS and other technologies for clinical applications. To work in collaboration with the Core Bioinformatics Facility at the University of Birmingham and University Hospitals Birmingham. To participate in working groups and meetings organised by the NHS bioinformaticians network (“NHS-NGS”). To work with the Genomics England and data serviced from the 100,000 genomes project. This job description may be further defined to accommodate future bioinformatics developments.

Key Result Areas:

Staff leadership and management: MANAGEMENT

To personally organise and prioritise their own workload and performance to meet diagnostic targets and appropriate deadlines.

Plan manage and organise own workload to meet priorities. To develop and maintain good working relationships with individuals with different levels of bioinformatics knowledge, including scientists, technologists clerical and clinical staff within WMRGL, staff from other pathology disciplines, Trust IT and academic staff. To be responsible for the training of bioinformatics to a range of scientists including individuals participating in the national Scientist Training Programme (STP). Liaise with other genetics laboratories, genomic research institutes, bioinformatics companies and bioinformatics tool developers as appropriate. To be responsible for the safe and effective use of high performance compute infrastructure To encourage and motivate staff to obtain optimal results. To participate in the recruitment and selection of staff, as required by the Director. Demonstrate a professional and responsible manner at all times. To undertake other appropriate duties as delegated by the Director of department / Consultant Clinical Scientists. LABORATORY To develop bioinformatics tools, pipelines and processes to acceptable standards of quality and accuracy suitable for the analysis and interpretation of NGS data for a broad range of clinical diagnostic and research applications To investigate methods for improved data storage and audit trail analysis for all processes. To develop bioinformatics tools and processes for the analysis for data from other technologies as required, e.g. solid state and mass analysers. To be involved in web development including front end databases. To create new algorithms as required. To be involved in database design and information structure (computer science). To be involved in business analysis including process mapping and customer – developer interfacing. To be aware of and address the literature and developments nationally and internationally in bioinformatics relevant to genetics laboratories. To develop and maintain custom variant databases required for clinical interpretation. To participate in the in evaluation, procurement and installation of software and hardware as required, including any replacement systems. To develop and review procedures relating to bioinformatics and to ensure they are kept up to date.

QUALITY To develop standard operating procedures for analytical pipelines and bioinformatics tools in line with current best practice guidelines and compatible with laboratory accreditation (UKAS). To work with all scientific and clinical teams to provide a bioinformatics service meeting high quality demands for safety and patient care. To participate in relevant internal and external quality control procedures. To monitor quality of the bioinformatics service CLINICAL GOVERNANCE To work with the genetics department to ensure achievement of and adherence to the standards required of a UKAS ISO15189:2012 accredited Laboratory, in close liaison with the Quality Lead and under the direction of the Head of Bioinformatics and ultimately the Director. To maintain the highest levels of patient confidentiality and comply with trust standards. To participate in the preparation of the department for UKAS Accreditation. To ensure that all members of staff abide by all statutory requirements, codes of practice, safety regulations and operational policies of the department and to be aware of these measures as applied to other sections. To ensure risk management and risk reporting strategy within the section functions effectively. EDUCATION AND DEVELOPMENT To actively participate in the departmental seminar and CPD programmes, presenting as appropriate. This will extend to presenting data externally to clinical and research collaborators. To provide training of bioinformatics for scientific, technical, clinical and research personnel as appropriate and according to requirements of specific training programmes. Participate in training meetings with other trainers and the Training Officer to ensure a co-ordinated approach and effective delivery of training. RESEARCH AND DEVELOPMENT To actively participate in research and development activities, and scientific reporting and dissemination of data as required by publication or presentation at scientific conferences (National and International). To contribute at a high level to the department’s research portfolio.

To contribute to grant applications as appropriate. The post holder will participate and lead in medium-term service development and enhancement. This may include: Evaluation and implementation of new methods. Evaluation of published developments and innovations and their transfer into clinical practice HUMAN RESOURCES To adhere to and perpetuate the District and Unit policies and procedures e.g. Equal Opportunities, Health & Safety and No Smoking. To perform individual personal reviews as part of the Trust staff appraisal scheme within own section or to other relevant staff as necessary. To manage internal grievance and disciplinary incidents/situations in accordance with the Trust policy and procedures To manage and monitor sickness absence within own section. OTHER The post holder will provide Clinical Scientist support out of hours as deemed necessary by the Director. They will participate in weekend and bank holiday rotas in a clinical scientist and technical capacity Position in the Organisation & Key relationships

As a Bioinformatician you will be expected to communicate closely with: Internal – Head of Bioinformatics, Programme Heads, Genetics IT manager and IT team members, Scientific, Technical and Clinical staff within the department. External – Diagnostic Genetics laboratories (UK & overseas), Genomic Research laboratories, bioinformatic resources, commercial NGS-related companies, staff at the Bioinformatics Core facility at Birmingham University and other collaborative research and clinical teams.

SUPPLEMENTARY DUTIES AND RESPONSIBILITIES

Director of Regional Genetics Laboratory

Head of Bioinformatics

Bioinformatians

Programme Heads

HEALTH AND SAFETY

You have a legal responsibility not to endanger yourself, your fellow employees and others by your individual acts or omissions. The postholder is required to comply with the requirements of any policy or procedure issued in respect of minimising the risk of injury or disease.

CONFIDENTIALITY

Attention is drawn to the confidential nature of the information collected within the NHS. The unauthorized use or disclosure of patient or other personal information is a dismissible offence and in the case of computerised information, could result in prosecution or action for civic damage under the Data Protection Act 1998.

It is a condition of your employment that, should you come into possession of information relating to the treatment of patients or the personal details of an employee, you should regard this information as confidential and not divulge it to anyone who does not have the right to such information.

The Trust fully upholds the Caldicott Report principles and you are expected within your day to day work to respect the confidentiality of patient identifiable information.

INFECTION PREVENTION AND CONTROL

The Trust is committed to minimising any risks of healthcare associated infection to patients, visitors and staff. All employees are required to be familiar with and comply with Infection Prevention and Control policies relevant to their area of work and must attend Infection Control training commensurate to their role.

MAJOR INCIDENTS

In the event of a Major Incident or Pandemic you may be asked to carry out other duties as requested. Such requests would be in your scope of competence, reasonable and with staff side agreement. You would also be reasonably expected to participate in training for these infrequent events.

RISK MANAGEMENT

The post-holder should be aware of the process for reviewing systems and improving them, in order to increase patient safety and improve the service provided by BCH. All staff (on permanent, temporary or honorary contracts) should have an awareness of the risk management processes and an understanding of risk management as part of the Governance agenda. This includes assessing, monitoring and managing all aspects of risk, including the planning and undertaking of any remedial action.

All staff should ensure they are aware of the Trust Risk Manual. All staff must be aware of their responsibility for reporting any adverse incidents, including “near miss” events, in accordance with the Trust’s Policy and guidance from the National Patient Safety Agency (NPSA).

EQUALITY AND DIGNITY

The postholder will be expected to adhere strictly to principles of fairness and equality in carrying out the role. At all times the postholder will be required to show respect for and maintain the dignity of patients, the public and work colleagues.

The Trust will not tolerate any form of bullying or harassment, violence or aggression against its employees.

SAFEGUARDING As a Trust employee you are required to comply with all legislation and guidance relating to safeguarding children and promoting their health and welfare. If you are being investigated regarding child protection concerns, or become subject to such investigations, appropriate steps may have to be taken such as redeployment, increased supervision etc. and, depending on the outcome of the investigation, there may be implications for your continued employment. You are required to inform the Head of Child Protection Support Service if your own children are/become subject to child protection procedures. This information will be

treated in a confidential manner.

COMMUNICATION (STAFF WITH SUPERVISORY/MANAGERIAL/LEADERSHIP RESPONSIBILITY)

An integral part of the role of any manager or person with leadership responsibilities is to communicate effectively with their staff and colleagues. It is an expectation of this role that resources and time will be allocated to communicate fully with staff and involve them in the decisions affecting them.

Arrangements should be made to ensure that local and Trust wide matters are communicated and discussed via appropriate means i.e., team meetings, written briefings etc.

INDUCTION

It is the responsibility of every employee to participate fully in induction.

A Trust wide induction course is held on the first and third Monday of each month and local induction will be provided within your own place of work.

APPRAISAL AND PERFORMANCE MANAGEMENT

All staff will be expected to fully participate in the Appraisal/ Performance Management process. This obligation will include the preparation for and attendance at appraisal/performance management interviews and completion of the associated documentation.

For Consultant Medical Staff an annual appraisal and review of the Job Plan is a contractual requirement.

Failure to participate in any stage of the process will render the process ‘incomplete’.

WORKING TIME DIRECTIVE

The working Time Regulations 1998 require that you should not work more than an average of 48 hours each week, i.e. in a 17 week period no more than 816 hours or 1248 hours in a 26 week period. To work more you must have the authorisation of your manager and you must sign an opt-out agreement that you choose to work more.

Should you have more than one job with the Trust or have a job with another employer, then the total hours worked in all your jobs should not exceed the average of 48 hours as above. You are therefore required to inform your manager if you continue to work elsewhere and the number of hours you work, or if you take up work elsewhere during your employment with the Trust.

Trust Values

Ambitious

Brave

Contribute to developing and maintaining equality of opportunity in working practices by complying with legislation and organisational policies. Advise colleagues about equality, diversity and human rights policies and procedures and ensure they are followed.

Ensure that colleagues are treated fairly. Behave in a non-discriminatory way and challenge the discriminatory behaviour of others. Be supportive of colleagues or service users who wish to raise issues about discriminatory practice or experience.

Compassionate

Trust Goals

PERSON SPECIFICATION Job Title: Bioinformatician

Essential Desirable Evidenced by

A – Qualifications

Degree in Computer Science or a Health Informatics discipline (first or second class with Honours) in OR relevant Biological Science with demonstrable abilities in informatics or computing

A / I

MSc in informatics/bioinformatics or equivalent

A / I

Certificate of Competence/MSC healthcare scientist training programme

A / I

State Registration as a Clinical Scientist with the Health Professional Council

A / I

Active participation in CPD

A / I

Participation in departmental seminars/journal clubs

A / I

Contribute to publications

A / I

Completed Training for Trainers

A / I

B – Knowledge/Experience

Previous experience of bioinformatics and familiarity with NGS pipelines including analysis of genomic sequence data using appropriate bioinformatic software.

A / I

Previous experience of web development

A / I

Involvement in new developments

A / I

Evidence of additional role(s)

A / I

Proficiency in Python programming and pipeline frameworks (e.g. Ruffus, CWL).

A / I

Working knowledge of Django framework

A / I

Working knowledge of R.

A / I

Knowledge of Linux and commonly used command line tools

A / I

Ability to evaluate new technologies and informatics tools relevant to a modern genetics laboratory

A / I

Experience of software/algorithm development, testing, introduction, maintenance and support.

A / I

Knowledge of database design, development and administration including evaluating and understanding database schemas (data models).

A / I

Experience of project management.

A / I

Knowledge of Trust and laboratory polices codes of practice and professional guidelines.

A / I

Knowledge of principles of molecular biology and clinical laboratory genetics

A / I

Knowledge of the principles of molecular genomics techniques and of basic molecular biology techniques.

A / I

Experience of software/web based tools for genetic data analysis and pathogenicity prediction tools (e.g. SIFT, PolyPhen).

A / I

Knowledge of LIMS IT systems and appropriate automated software packages

A / I

C – Skills – for example

Ability to communicate highly complex information in both verbal and written formats

I

Proven organisational skills

I

Ability to work independently under the direction of senior staff

I

Excellent organisational skills

I

Ability to pay attention to detail and maintain accurate records

I

Effective team worker and ability to give technical training to other staff

I

Ability to produce bioinformatics pipelines to acceptable standards of quality and accuracy for NGS data and other genomic technologies

I

Excellent problem-solving skills and ability to adapt to new problems and ideas

I

Ability to communicate scientific and bioinformatic findings to local and national meetings and conferences

I

D – Approach/Values

Ability to work under pressure

I

Flexible approach to work to tight deadlines

I

Good interpersonal skills to enable adequate communication with a wide range of clinical and non-clinical colleagues as well as academic and other IT professionals

I

Enthusiasm/motivation

I

Self-motivated and desire to develop new skills as required

I

Self confidence

I

To be evidenced by key: A – Application I – Interview T – Test C – Certificate R - Reference

Approved by:

Name Sam Clokie

Post holder Lead bioinformatician

Approved

Manager Date