Understanding myeloid disorders with next-generation sequencing

Introduction

In the past decade, the advent of next-generation sequencing (NGS) has revolutionised the world of genetic research and is now beginning to impact on clinical testing. The introduction of targeted sequencing – a technique that specifically focuses on sequencing regions associated with causal mutations – has improved speed and accuracy of genetic analysis.

One of the centres where NGS has been introduced alongside conventional tools for genetic analysis is the West Midlands Regional Genetics Laboratory (WMRGL) of the Birmingham Women’s NHS Foundation Trust in the UK. It is the largest genetic laboratory in the UK, handling over 50,000 samples per year. The WMRGL team includes Dr Anna Skowronska (R&D scientist), Dr Jane Bryon (MPN team lead) and Ms Joanne Mason (Haemato- Oncology team lead). In this article, they discuss the validation and introduction of a 25-gene myeloid disorder hybridisation-based NGS enrichment panel, recently launched by OGT.