Clinical Scientist – Rare Disease Genomics

This is a fully remote position, open to applicants anywhere in the world.

📋 Description

• Analyze and interpret next-generation sequencing (NGS) data, whole exome sequencing (WES), and whole genome sequencing (WGS) for the diagnosis of rare diseases.

• Implement evidence-based clinical standards and guidelines to classify genetic variants.

• Operate within an IVDR-regulated clinical interpretation platform alongside FRCPath and HCPC-registered Clinical Scientists.

• Collaborate with NHS and industry partners, clinicians, bioinformaticians, genomic specialists, and Clinical Scientists.

• Contribute to the enhancement of clinical interpretation services and the development of the platform.

• Maintain quality, compliance, regulatory, governance, and clinical safety standards.

• Support diagnostic decisions that are patient-centered.

⛳️ Requirements

• HCPC registration (or equivalent).

• Practical experience in WES/WGS analysis and writing diagnostic reports.

• Current knowledge of ACMG/ACGS variant classification guidelines.

• Previous or current experience with the Congenica platform (preferred).

• Experience in the field of rare disease genomics.

• Capability to analyze and interpret NGS data.

• Ability to work within an IVDR-regulated clinical interpretation platform.

• Familiarity with ISO standards, clinical safety protocols, genomic analysis, reporting, and governance.

🏝️ Benefits

• Fully remote and flexible working arrangements (including indemnity insurance).

• Variable hours to accommodate your availability, ranging from ad hoc to full-time opportunities.

• The chance to work within a well-established clinical interpretation service.

• Flexibility in the number of working hours.

• Opportunities for internal career development.

• Ongoing training sessions.

• Participation in scientific conferences.

• Competitive benefits package.