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About the role
Key responsibilities & impact- Analyse and interpret next-generation sequencing (NGS) data, whole exome sequencing (WES), and whole genome sequencing (WGS) for rare disease diagnostics
- Apply evidence-based clinical standards and guidelines to classify genetic variants
- Work within an IVDR-regulated clinical interpretation platform alongside FRCPath and HCPC-registered Clinical Scientists
- Collaborate with NHS and industry partners, clinicians, bioinformaticians, genomic experts and Clinical Scientists
- Contribute to enhancing clinical interpretation services and platform development
- Uphold quality, compliance, regulatory, governance and clinical safety standards
- Support diagnostic decisions centered on patients
Requirements
What you’ll need- HCPC registration (or equivalent)
- Hands-on experience in WES/WGS analysis and diagnostic report writing
- Up-to-date working knowledge of ACMG/ACGS variant classification guidelines
- Current and/or previous experience using the Congenica platform (preferred)
- Experience in rare disease genomics
- Ability to analyse and interpret NGS data
- Ability to work within an IVDR-regulated clinical interpretation platform
- Familiarity with ISO standards, clinical safety, genomic analysis, reporting and governance
Benefits
Comp & perks- Fully remote and flexible working (indemnity insurance incl)
- Variable hours to suit your availability - from ad hoc through to full time
- The opportunity to work within an established clinical interpretation service
- Flexible number of hours
- Internal career development
- Continuous training
- Participation in scientific conferences
- Competitive benefits