Principal Clinical Scientist - Rare Disease Genomics
The closing date is 22 June 2026
Join the Cambridge Genomics Laboratory, lead provider for the East NHS Genomic Medicine Service, and play a pivotal role in delivering high‑quality rare disease diagnostics and improving patient care. As a Principal Clinical Scientist, you will lead and manage a team of scientists, oversee the interpretation of complex genomic data, authorise clinical reports, and provide specialist scientific expertise across a diverse test repertoire.
You will contribute to service leadership, quality management, accreditation activities, staff development, and the implementation of innovative genomic technologies. Working closely with clinicians and multidisciplinary teams, you will help ensure an efficient, accurate, and patient‑focused diagnostic service.
Applicants must be HCPC‑registered Clinical Scientists with significant experience in a genomics laboratory, expertise in rare disease testing, and proven leadership and staff management skills. Strong communication, analytical, and organisational abilities are essential.
Main duties of the job
* Lead and manage a team of scientists undertaking genetic diagnostic tests in rare disease.
* Analyse and interpret genomic data, and write and authorise clinical reports.
* Provide clinical scientific expertise for the repertoire of disorders/tests offered by the assigned team.
* Train and mentor scientific staff.
* Act as a member of the laboratory leadership team, contributing to all aspects of providing a high‑quality service.
Benefits to you
* Development opportunities and a wide range of benefits, including on‑site leisure facilities, shopping concourse and day nurseries.
* Reduced‑cost Stagecoach bus travel to and from the Cambridge University Hospital site. Park and Ride bus journeys between Babraham Road and Trumpington sites, as well as the route to and from the Cambridge train station, are free.
* Subsidised parking on site for eligible staff.
* Hot food available 24/7 on CUH campus, available at a reduced cost for colleagues.
* Staff pod break spaces with free tea and coffee, a break space and private outside area for colleagues to rest, refuel and recharge.
* Flexible arrangements may include part‑time working, job‑share, term‑time working and flexible start and finish times.
We welcome applications from the Armed Forces.
Person Specification
Qualifications
* Registered Clinical Scientist with HCPC.
* Completion of a formal training programme in Laboratory Genetics, or a postgraduate qualification (PhD or equivalent) in a relevant subject.
* Completion of Part 1 FRCPath in Genetics; or PhD in a relevant Human Genetics subject and actively preparing for Part 1 FRCPath.
* Part 2 FRCPath in Genetics, or working towards it.
* Undergraduate degree in an appropriate biological science.
Experience
* Significant experience of working as a Clinical Scientist in a genomics laboratory.
* Experience of research and development relevant to genomic testing.
* Experience of project management.
* Experience of management and supervision of staff.
Knowledge
* Comprehensive knowledge of human genetics.
* Comprehensive knowledge and understanding of rare disease cytogenetics and molecular genetic techniques.
* Experience and knowledge of analytical methods, problem solving and troubleshooting.
* Good knowledge of general managerial procedures.
* Knowledge of data protection requirements.
* Thorough knowledge of the requirements of UKAS ISO:15189 and understanding of quality assurance.
Skills
* Analysis of rare disease genetic test results.
* Organise and manage complex activities.
* Provide leadership and training to scientific teams within the department.
* Maintain intense concentration on important tasks despite frequent interruptions.
* Excellent verbal and written communication skills.
* Use and manipulate lab computer systems and standard software packages.
* Prepare and present complex scientific and clinical information at meetings or as part of teaching/training events.
* Develop new policies and protocols.
Additional Requirements
* Ability to understand and behave at all times towards patients, visitors and colleagues according to the Trust values of safe, kind, excellent.
* Ability to deal with difficult and challenging situations.
Disclosure and Barring Service Check
This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975 and as such it will be necessary for a submission for Disclosure to be made to the Disclosure and Barring Service (formerly known as CRB) to check for any previous criminal convictions.
Cambridge University Hospital NHS Foundation Trust
#J-18808-Ljbffr