CS Genetics Unveils New Modality for Noninvasive Molecular Diagnosis

CAMBRIDGE, England, July 10, 2018

CS Genetics, a developer of tools and techniques for genomics, has made a sequence of scientific, conceptual, and analytic advances regarding circulating nucleic acids which yield a powerful new modality for the noninvasive diagnosis of cancer and other major medical conditions.

The company has discovered that somatic genomic DNA molecules are packaged and confined into large, cell-derived microparticles which then enter circulating blood, in such manner that single circulating microparticles can stably retain thousands to millions of DNA fragments, from an individual cell, from a specific body tissue. The company has found that each millilitre of peripheral blood typically contains many thousand such microparticles, including a large population within blood fractions that are disregarded by traditional laboratory methods.

These discoveries reveal that a standard venipuncture specimen carries approximately the same near-flawless molecular-genomic information as would a catalogue of many thousand, individual, fine-scale invasive biopsies if they were taken simultaneously throughout all tissues and organs of a single patient.

This simple, unexpected insight – and the assay technology to fully harness it – will bring noninvasive diagnostic measurement into a new regime of biologic precision, and will catalyse widespread new use of genomic technology in clinical medicine.

CS Genetics is developing a novel variant of Coding Strand Sequencing™, its proprietary molecular-indexing technology, to perform the challenging analytic task of tagging, tracking, and interrogating sequences from individual circulating microparticles, across thousands to millions of such microparticles in parallel. This assay modality informatically couples each circulating DNA sequence to other sequences from the same physical haploid chromosome, and the same single-cell genome, and the same specific body tissue – and thus provides a highly data-dense molecular recording that is annotated through all major domains of human pathophysiology.

Lucas Edelman, Founder and Chief Executive, remarked:

“These advances provide a substantively new perspective on circulating nucleic acids and on the clinical/diagnostic tools they can enable.

Of note, we are developing a categorically new type of noninvasive, pan-cancer screening test, which is engineered to detect and localise the majority of lethal human malignancies at Stage 1 or earlier — as is necessary to realise genuine population-scale curative intervention with an early cancer detection test, rather than the small, incremental survival benefit attainable with existing screening-assay methods. This test will incorporate microparticle-based genomic and epigenomic measurements and insight-informed informatic tools to reliably detect lethal but curable cancers and the tissue sites in which they are located.

We will also develop diagnostic tools for additional clinical indications where microparticle-based measurements can provide more accurate and/or granular readouts than alternative technologies.”

CS Genetics is assembling a comprehensive, end-to-end global intellectual property portfolio regarding genomic and epigenomic measurement of circulating microparticles, including a large constellation of key accretive experimental and informatic methods. This joins further IP regarding the company’s other innovative genomic products.

The company’s versatile Coding Strand Sequencing™ platform enables instrument-free, solution-phase indexing of single molecules, single cells, or complex samples such as peripheral blood, using low-cost reagents and indexing mechanisms that are highly orthogonal to alternative methods.

Said Edelman:

“Our product roadmap sets us against some of the most meaningful scientific challenges outstanding today. We look forward to our considerable but clear path for shepherding this early technology through advanced development and into frontline clinical deployment around the world.”

About CS Genetics:

CS Genetics is a developer of tools and techniques for genomics based in Cambridge, UK. For further information, contact

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