Clinical Bioinformatician (we have office locations in Cambridge, Leeds and London)

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.

Job Description

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.

Qualifications

• 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 experience producing requirements, documentation, guidance and user-facing materials. 
• Collaborative approach, with the ability to work effectively across multidisciplinary teams and provide subject-matter expertise.
• Curious, adaptable and detail-oriented, with confidence navigating ambiguity.

Additional Information

Salary from: £50,000

Closing date for applications - Thursday 22nd October at midnight.

Being an integral part of such a meaningful mission is extremely rewarding in itself, but in order to support our people, we’re continually improving our benefits package. We pride ourselves on investing in our people and supporting them to achieve their career goals, as well as offering a benefits package including: 

• Generous Leave: 30 days’ holiday plus bank holidays, additional leave for long service, and the option to apply for up to 30 days of remote working abroad annually (approval required).
• Family-Friendly: Blended working arrangements, flexible working, enhanced maternity, paternity and shared parental leave benefits.
• Pension & Financial: Defined contribution pension (Genomics England double-matches up to 10%, however you can contribute more if you wish), Life Assurance (3x salary), an Electric Vehicle salary sacrifice scheme and a Give As You Earn scheme.
• Learning & Development: Individual learning budgets, support for training and certifications, and reimbursement for one annual professional subscription (approval required).
• Recognition & Rewards: Employee recognition programme and referral scheme.
• Health & Wellbeing: Subsidised gym membership, a free Headspace account, and access to an Employee Assistance Programme, eye tests, flu jabs.

Equal opportunities and our commitment to a diverse and inclusive workplace 

Genomics England is actively committed to providing and supporting an inclusive environment that promotes equity, diversity and inclusion best practice both within our community and in any other area where we have influence. We are proud of our diverse community where everyone can come to work and feel welcomed and treated with respect regardless of any disability, ethnicity, gender, gender identity, religion, sexual orientation, or social background. 

Genomics England’s policies of non-discrimination and equity and will be applied fairly to all people, regardless of age, disability, gender identity or reassignment, marital or civil partnership status, being pregnant or recently becoming a parent, race, religion or beliefs, sex or sexual orientation, length of service, whether full or part-time or employed under a permanent or a fixed-term contract or any other relevant factor.

Genomics England does not tolerate any form of discrimination, harassment, victimisation or bullying at work. Such behaviour undermines our mission and core values and diminishes the dignity, respect and integrity of all parties. Our People policies outline our commitment to inclusivity. 

We aim to remove barriers in our recruitment processes and to be flexible with our interview processes. Should you require any adjustments that may help you to fully participate in the recruitment process, we encourage you to discuss this with us. 

Culture

We have four key behaviours that represent what we would like Genomics England to feel like and the culture we want to encourage, in order for us to achieve our mission. These behaviours help us all work well together, deliver on our outcomes, celebrate our successes and share feedback with each other. You can read about these and other aspects of our culture here  Culture | Genomics England

Blended working model

Genomics England operates a blended working model as we know our people appreciate the flexibility that hybrid working can bring. We expect most people to come into the office a minimum of 2 times each month. However, this will vary according to role and will be agreed with your team leader. There is no expectation that people will return to the office full time unless they want to, however, some of our roles require full time on site attendance e.g., lab teams, reception team. 

Our teams and squads have, and will continue to reflect on what works best for them to work together successfully and have the freedom to design working patterns to suit, beyond the minimum. Our office locations are: Canary Wharf, Cambridge and Leeds.

Onboarding background checks

As part of our recruitment process, all successful candidates are subject to a Standard Disclosure and Barring Service (DBS) check. We therefore require applicants to disclose any previous offences at point of application, as some unspent convictions may mean we are unable to proceed with your application due to the nature of our work in healthcare.