Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.

This publication discusses the integration of tumour and germline genetic testing within the UK’s NHS framework to guide clinical management of cancer patients.

Key points include:

• Tumour DNA testing can identify potentially heritable variants but does not replace germline testing when hereditary cancer predisposition is suspected.
• The likelihood that a tumour-identified variant is germline depends on various clinical and technical factors.
• Certain genotypes significantly influence cancer risk and potential interventions.
• After a national consensus, authors propose an NHS-specific “intermediate conservative” workflow.
• This workflow prioritizes germline follow-up testing for tumour-detected variants with the highest clinical impact.
• The goal is to optimize resource use and support efficient, equitable delivery of genomic medicine in oncology.