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Genomics England said it has generated positive results from the first phase of a collaboration with Inivata and Thermo Fisher Scientific designed to study the use of liquid biopsies in cancer.

The study demonstrated what the agency overseeing the 100,000 Genomes Project said was “the strong potential for liquid biopsy to improve cancer management and outcomes for UK patients.”

The plasma samples collected were of a high quality and, when analyzed, produced reliable results that were were consistent across all cancer types, Genomics England added.

“The potential that liquid biopsies represent for earlier diagnosis and tracking of cancer is well documented, but nonetheless remains very exciting. There is still much to do to establish clinical utility and suitability of the technology,” Genomics England Interim CEO Mark Caulfield said in a statement.

Genomics England was formed in 2013 by the U.K. Department of Health to run the 100,000 Genomes Project, an effort to collect, store, and analyze data from the genomes of patients with rare diseases, their families, and patients with cancer

Inivata and Thermo Fisher analyzed about 200 blood plasma samples donated by 100,000 Genomes Project participants for their suitability for next generation sequencing (NGS)-based testing. The collection methods were shown to allow for circulating tumor DNA (ctDNA) analysis, opening up possibilities for further analysis of banked samples using liquid biopsy technology such as those provided by Inivata and Thermo Fisher Scientific.

The analysis also established the capacity of Inivata’s InVision liquid biopsy platform, and Thermo Fisher’s Oncomine Pan-Cancer Cell-Free Assay to identify cancer, Genomics England added.

“The successful end of this initial phase demonstrates the quality of the sample collection from all sites and will enable the exploration of a number of ways of providing further insights to patients,” Inivata CEO Clive Morris stated.

‘Potential Early Detection Approach’

Added Joydeep Goswami, president of Clinical Next Generation Sequencing and Oncology for Thermo Fisher: “The application of liquid biopsy to better understand cancer holds great promise as a less-invasive and potential early detection approach for the future of patient care. The successful completion of phase one of this program, enabled by the leadership and support from Jacqui Shaw [PhD]’s lab at the University of Leicester, corroborates the potential of this approach. We look forward to the next steps in our ongoing collaboration with Genomics England.”

Shaw leads the cfDNA advisory group for the 100,000 Genomes project led by Genomics England. Shaw’s lab focuses on research into circulating nucleic acids for early detection and monitoring of breast cancer. The lab collaborates with Prof. R. Charles Coombes at Imperial College London in an integrated clinical and translational research program funded by a grant from Cancer Research UK.

“Our recent work has highlighted the importance of CNV [copy number variation] as well as somatic mutations in cfDNA [cell-free DNA] for monitoring tumour evolution and emergence of resistance to endocrine therapy as well as the need to consider both cfDNA and circulating tumour cells (CTCs) in clinical decision making in metastatic breast cancer,” Shaw stated on the University of Leicester’s website.

The first-phase study is part of a three-phase pilot project launched to:

  • Assess the suitability of ctDNA samples collected by the U.K.’s National Health Service (NHS) during the 100,000 Genomes Project
  • Evaluate various liquid biopsy technologies now on the market.
  • Generate evidence to potentially consider implementing liquid biopsy testing in future routine healthcare for better disease treatment or prevention.

The study’s second phase will aim to generate data toward an objective technology assessment between pre-selected liquid biopsy companies: “This will inform future procurement and research strategies to improve patient outcomes,” Genomics England stated.

The final phase will be a proof of concept longitudinal ctDNA sample study that is intended to develop less invasive sample collection techniques, more effective monitoring processes, and ultimately better cancer care.

Genomics England said results from all three phases will be shared with researchers in the U.K. and worldwide. That sharing will include providing additional multi-omic data to members of the Genomics England Clinical Interpretation Partnership (GeCIP), through which researchers and clinicians from academia and the NHS partner with Genomics England to analyze data from the 100,000 Genomes Project.

Data will also be provided to members of the Discovery Forum, through which Genomics England engages with partners from industry, as well as from academia, the NHS and the broader U.K. genomics field.

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