Developments in long-read sequencing at Genomics England

Genomics England has highlighted positive progress from a study using 100 whole genome sequences, generated by technology, from tumour samples.

Part of the 100,000 Genomes Project, the cancer team at Genomics England launched a proof-of-concept study into the technology that analyses long regions of DNA, hoped to spot structural changes in genomes more easily.

In the announcement from Genomics England, the organisation said: “The clinically relevant fusions and other rearrangements that the cancer team has identified from long-read data are essential prognostic markers in patients with acute leukaemia and could support clinical management decisions, such as the need for a bone marrow transplantation or a change in a patient’s current treatment. This is a huge milestone as these discoveries show the relevance of using long-read sequencing, and complementing existing short-read sequencing, for clinical use in cancer care.”

The collection of over 100 genomes included multiple cancer types (acute leukaemia, several different sarcoma types and ovarian cancer) with a broad range of genomic rearrangements and mutational signatures.

Genomics England aims to pair the technology with other tools to be able to find new signatures of genomic instability that can be associated with improved patient prognosis or response to treatment.

Dr. Alona Sosinsky, Scientific Director for Cancer, Scientific Director for Cancer, said: “We’ve seen very encouraging outcomes from our first glance at genomic data generated with nanopore technology. That gives us confidence and opens the door for developing clinical applications for this cutting-edge technology. Through the network of clinical colleagues, academic collaborators and pharma partners, we’ve already identified potential clinical trials where nanopore sequencing can provide unique opportunities for stratifying patients for personalised treatments.

“Our next step is to ensure that we have an analytical pipeline that utilises these opportunities that nanopore technology is providing. Our unique and growing collection of data attracts world leaders in algorithm development to support us in this endeavour.”

To find out more, please visit the Genomics England website.