Clinical Bioinformatician; office locations

Genomics England is a global leader in enabling genomic medicine and research, focused on creating a world where everyone benefits from genomic healthcare. Building on the 100,000 Genomes Project, we support the NHS’s world-first national whole genome sequencing service and run the growing National Genomic Research Library, alongside delivering numerous major genomics initiatives. By connecting research and clinical care at national scale, we enable immediate healthcare benefits and advances for the future.

Our mission is to provide the evidence and digital systems so that by 2035 genomics could play a role in up to half of all healthcare interactions, whilst securing the UK’s position as the best place to discover, prove and benefit from genomic innovations.

We are accelerating our impact and working with patients, doctors, scientists, government and industry to improve genomic testing, and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody.

Behind the Healthcare and Research outcomes, Genomics England delivers through designing, developing and operating complex healthcare software systems.

We're on the cusp of big changes with the real prospect of genomics becoming the fabric of everyday healthcare through the lifetime – from birth to old age.

We are hiring a Clinical Bioinformatician to join our Rare Disease Decision Support System squad, helping shape digital tools that support whole genome sequencing interpretation across the NHS Genomic Medicine Service.

This is a collaborative role where your clinical science, rare disease genomics or bioinformatics expertise will help translate complex genomic information into safe, clear and effective product functionality for clinical users and patients.

You will help define requirements and test scenarios, review designs and functionality, provide clinical guidance and sign-off, and support UAT, documentation, training and ongoing product development.

Initially the role might not require significant amounts of programming or coding, as you will be mostly working alongside a team that includes Engineers and Bioinformatics Engineers. However, we do need someone who is comfortable to write code when called upon and communicate with technical colleagues.

Everyday responsibilities include:

• Provide clinical and scientific input into new and existing Rare Disease DSS functionality.
• Work closely with Product Managers, Designers, Engineers, QA, Clinical Safety and Genomic Data Science colleagues to translate clinical needs into clear requirements, user stories and acceptance criteria.
• Review designs, tickets and delivered functionality to ensure they reflect clinical workflows, data limitations, edge cases and potential clinical risks.
• Support testing, validation, UAT and release readiness by defining representative scenarios and reviewing outcomes against intended clinical use.
• Contribute to clinical risk assessments, user documentation, training materials, product demonstrations and onboarding for new users or sites.
• Act as a trusted subject-matter expert for the squad, helping to clarify questions, investigate issues and identify opportunities to improve the product.

• Experience in rare disease genomics, clinical science, clinical bioinformatics or a related healthcare setting.
• Understanding of whole genome sequencing, bioinformatics pipelines and diagnostic reporting.
• Ability to interpret complex genomic and clinical data, identify risks and limitations, and communicate these clearly to technical and non-technical colleagues.
• Proficiency in R/Python programming and data handling.
• Strong written communication skills, with…