Next Generation Sequencing: Changing the game in CFTR analysis

Many testing strategies have been developed in laboratories across the world. Optimal strategies generally include what might be termed “level 1” and “level 2” testing. Until the recent application of next generation sequencing (NGS), no single-pass assay has been capable of routinely screening for all published CFTR mutations. Multi-level testing has therefore been a cost-effective strategy to maximize mutation detection in populations where a small number of common mutations account for a significant proportion of the overall mutation spectrum.

This whitepaper is authored by Stewart Payne, Consultant Clinical Scientist at UK National Health Service and Head of Molecular Genetics in the North West Thames Regional Genetics since 1995. Stewart’s laboratory was one of few in the UK offering CFTR whole gene analysis by Sanger sequencing and has recently translated whole gene analysis to next generation sequencing.

• How NGS enables routine screening of all published CFTR mutations.
• Categories of CFTR mutations and interpretation of CFTR mutation data.
• What the future holds for CFTR diagnostics and targeted therapies.