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Healthcare Scientist-Rare Disease Genomics

Cambridge University Hospital NHS Foundation Trust
£35,392 to £42,618 a year p.a. pro rata
Closing date
25 Jun 2024

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Healthcare scientist
Band 6
Contract Type
Full Time
Clinical Genomic Science offers a dynamic, stimulating and rewarding career. The East Genomic Laboratory Hub at Cambridge University Hospitals is looking for scientists with diagnostic, academic or industrial experience in the field of genetics/genomics who wish to apply their skills within our Rare Disease Genomic Service.

We are recruiting Healthcare Scientists to support the expansion of the Rare Disease Genomic Service to provide large scale, high quality, patient-centric genomic testing. We are looking for motivated and enthusiastic scientists with excellent communication skills and a strong work ethic.

You will work as part of a friendly and supportive team within a specialist clinical area. You will contribute to the service by managing referrals as well as analysing and reporting a range of diagnostic, predictive, screening and prenatal genomic tests for the team. Knowledge and experience of variant interpretation frameworks for the analysis of sequence and/or copy number variants is desirable. There will be opportunity to support service development and R& D projects.

This is an excellent opportunity for science graduates or post-graduates to gain experience of genomic diagnostics expert training and support in specialist areas will be provided. The laboratory supports HCPC registration for those who are interested and eligible, through an organised framework which includes mentoring and funded access to formal training modules/MSt.

Main duties of the job

1. Monitoring referrals into the laboratory for a specialist area

2. Analysis, interpretation and reporting of genetic test results

3. Deliver and maintain a high quality diagnostic service

About us

Our Trust

Cambridge University Hospitals (CUH) NHS Foundation Trust comprises Addenbrooke's Hospital and the Rosie Hospital in Cambridge. With over 12000 staff and over 1100 beds the priorities of the Trust focus on a quality service which is all about people - patients, staff and partners. Recognised as providing 'outstanding' care to our patients and rated 'Good' overall by the Care Quality Commissioner, is testament to the skill and dedication of the people who work here. CUH's values - Together - Safe, Kind, Excellent - are at the heart of patient care, defining the way all staff work and behave. The Trust provides accessible high-quality healthcare for the local people of Cambridge, together with specialist services, dealing with rare or complex conditions for a regional, national and international population.

CUH is committed to promoting a diverse and inclusive community - a place where we can all be ourselves. We value our differences and fully advocate and support an inclusive working environment where every individual can fulfil their potential. We want to ensure our people are truly representative of all the communities that we serve. We welcome applications for all positions in the organisation irrespective of people's age, disability, ethnicity, race, nationality, gender identity, sex, sexual orientation, religion or belief, marriage and civil partnership status, or pregnancy and maternity status or social economic background.

Job description

Job responsibilities

Please see the attached Applicant Information Pack (combined Job Description and Person Specification) for key duties and responsibilities.

You can read more about us at

This vacancy will close at midnight on 24th June 2024

Interviews are due to be held on 8th July 2024

Benefits to you

We offer development opportunities and a wide range of benefits including on-site leisure facilities, shopping concourse, day nurseries and access to a great transport system with easy access to airports and rail travel.

Please note if you would like to discuss the required hours of this role further, you should approach the contact given. In some cases, alternative working hours will be considered.

We welcome applications from the Armed Forces.

Person Specification



  • First degree in an appropriate biological science.


  • Completion of formal training programme in clinical genomics/molecular genetics/cytogenetics
  • MSc / PhD in relevant subject
  • Holding HCPC registration or working towards



  • Work experience in a diagnostic laboratory
  • OR Postgraduate research experience in genetics/genomics/molecular or cell biology.
  • OR Experience in relevant industry


  • Experience of change process within a laboratory.
  • Experience of Quality Management Software
  • Evidence of training and developing colleagues.



  • To have knowledge of human genetics, cancer genomics or inherited diseases.
  • To have a good knowledge of analytical methods, quality assurance and problem solving.
  • To have a good knowledge of specialised molecular biology methods and their clinical application.


  • Knowledge of sample pathways through a genetic diagnostic service.
  • Knowledge of the expectations of conduct for a Clinical Scientist.



  • Able to organise and manage complex activities.
  • Able to maintain intense concentration on important tasks despite frequent interruptions.
  • Good verbal and written communication skills.
  • Able to use and manipulate lab computer system and standard software packages.
  • Experienced in techniques used for the diagnosis of human inherited disorders


  • Able to conduct Research and Development activities.
  • Ability to carry out audits, incident investigations and root cause analysis.
  • Experience of bioinformatics tools
  • Experience in using interpretation frameworks for the analysis of genomic variants

Additional Requirements


  • The ability to understand and behave at all times, towards patients, visitors and colleagues according to the Trust values of Safe, Kind, Excellent.

Employer details

Employer name

Cambridge University Hospital NHS Foundation Trust


Addenbrookes Hospital-Division B

Hills Road



Any attachments will be accessible after you click to apply.


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