Research Fellow, Centre for Public Health

This post involves working with a multi-disciplinary, multi-centre team to help evaluate the impact of implementing whole genome
sequencing to improve rare disease diagnosis within NI and developing a patient-centred approach to optimise this process for NI's
Genomic Medicine Centre.

The European Union (EU) definition of a rare disease is one that affects <5 per 10,000 people, with ~30 million persons directly
affected in the EU and ~106,000 affected in Northern Ireland. These diseases are individually rare, but collectively common and
represent a significant public health concern. This project builds on rare disease progress within Northern Ireland, as well as
technological advances for faster, more accurate genetic diagnosis through whole genome (next-generation) sequencing. The project
involves working with healthcare practitioners, patients, families, advocacy groups, and the Northern Ireland Genomic Medicine
Centre team to identify strategic priorities for modernising and delivering local rare disease services. Mixed methodological
approaches will be used to evaluate patient-practitioner communication, access to appropriate information sources, and impact
throughout the process of whole genome sequencing for diagnosis. This project is topical, timely and offers significant scope for the
successful applicant to input to how individuals living and working with rare diseases are impacted by whole genome sequencing and
supported through the diagnostic process.

The post may involve liaising with international collaborators, collating existing data, conducting surveys, focus groups and interviews,
bioinformatic analysis of data, integrating datasets, preparing regular summary reports, and taking the lead writing academic outputs
and research dessemination. The successful applicant will also have a placement contract within the 100 KGP team, based at the
Regional Genetics Centre of Belfast City Hospital (Belfast Health and Social Care Trust).

MAJOR DUTIES:

1. To evaluate the impact of rare disease in Northern Ireland, including burden analysis for quality of life, social interrogation of
living with a rare disease, and evaluation of prompt, accurate diagnosis.
2. To work with colleagues developing relevant education and stakeholder engagement activities.
3. To assist in developing a detailed project plan to meet research objectives in accordance with best practice.
4. To assist in sample management, quality control and inventory of samples and data from participants.
5. To develop standard operating procedures as required.
6. To take the lead on data harmonisation procedures and ensure data is compliant with ethical and governance requirements.
7. To keep abreast of the research field and relevant developments within English and International Genomic Medicine Centres
undertaking whole genome sequencing for rare diseases.
8. To undertake formative and developmental research working with patients, families and advocacy groups to co-design and
co-produce patient-centred care pathways.
9. To help evaluate recruitment, acceptability, feasibility, quality of patient-centred care and the personal and family psychosocial
impact so that service processes may be refined accordingly.
10. To work with colleagues to create an online information resource for rare diseases selected for WGS in this 100 KGP pilot.
11. To work with colleagues developing/scoping a consolidated research infrastructure that could be extended to maintain a record
of ongoing rare disease research in NI, share examples of good practice and accredited standards of care, and highlight
opportunities for NI patients to participate in rare disease research including clinical trials which are dependent on particular genetic variants.
12. To undertake practical evaluation of process(es) to help capture what is the feasibility of extending whole genome sequencing
delivery in Northern Ireland.
13. To prepare regular summary reports for the project team and communication to stakeholders.
14. To prepare, in consultation with the project team, material for publication in national and international journals and presentations
at national and international conferences.
15. To assist with the submission of associated grant applications and the supervision of students.
16. To assist with preparation of relevant ethical and research governance documents.

Planning and Organising:

1. To draw up a Gantt chart and plan for specific deliverables of the research project’s scientific outputs.
2. To plan for the use of research resources and workshops where appropriate.
3. To plan own day-to-day activity within framework of the agreed research programme.
4. To plan to meet deadlines for journal publications and to prepare presentations and papers for conferences.
5. Coordinate and liaise with other members of the research group and project team regarding progress.

Resource Management Responsibilities:

1. To ensure research resources are used in an effective and efficient manner.
2. To provide support and guidance as required to staff and students assisting with the research.

Internal and External Relationships:

1. To liaise on a regular basis with colleagues, students and key stakeholders.
2. To maintain existing and establish new internal contacts and participate in internal networks for the exchange of information and
to form relationships for future collaboration.
3. To maintain existing and establish new external networks to share information and ideas.
4. To contribute to the School’s outreach programme by maintaining existing and establishing new links with local community groups.

ESSENTIAL CRITERIA:

1. Have or about to obtain PhD in relevant discipline.
2. At least 3 years’ recent research experience and skills relevant to this project.
3. Experience of project management, delivering research outcomes, and proven ability to work in a multi-disciplinary environment
as part of a research team.
4. Sufficient breadth and depth of specialist knowledge in research methods and techniques pertinent to this project.
5. Good presentation and publication track record commensurate with the stage of career.
6. Excellent IT skills e.g. Microsoft Office suite.
7. Excellent organisational skills.
8. Excellent inter-personal skills.
9. Excellent oral and written communication skills.
10. Evidence of ability to write reports and meet deadlines.
11. Evidence of ability to deal competently with administrative tasks and contribute to broader management tasks.
12. Clear and confident communicator.
13. Ability to give formal presentations.
14. Ability to work independently and on own initiative.
15. Ability to act decisively and confidently.
16. Access to transport and willingness to travel to meet the needs of the post.
17. Ability to work outside normal hours when necessary.

DESIRABLE CRITERIA:

1. First or Upper Second Class Honours Degree in a relevant discipline, a Master’s degree, and / or relevant professional qualification.
2. Experience conducting health services research and / or evaluating health service delivery
3. Experience conducting reviews.
4. Experience of evaluating change in healthcare.
5. Experience developing educational tools and / or patient care pathways.
6. Experience hosting stakeholder events and / or personal and public involvement initiatives that facilitate the active and effective
involvement of service users, carers and the public.
7. Experience using mixed methodological approaches.
8. Proven ability to participate in or initiate collaborative research.
9. Evidence of having co-ordinated a research project to successful completion.
10. Strong commitment to a career in research or Public Health.