Research

An Interview with SOPHiA GENETICS: STS and the CE-IVD Designation

SOPHiA GENETICS’ Solid Tumor Solution (STS) application was recently granted a CE-IVD designation, a regulatory stamp that a product has satisfied the EU’s in vitro diagnostic device requirements. We spoke to Gioia Althoff, SOPHiA’s Senior Vice President, Genomics Business Area, about the STS application and where SOPHiA is going from here.

Initial Study on Plasma Samples and Liquid Biopsy Potential Completed by Genomics England, Inivata and Thermo Fisher Scientific

The first stage of a collaboration between Genomics England, Inivata and Thermo Fisher Scientific looking to assess the suitability of circulating tumour DNA (ctDNA) samples collected during the 100,000 Genomes Project has now concluded. The collaboration was also created to objectively evaluate liquid biopsy market offerings and find evidence for implementing that technology in healthcare for better disease treatment and prevention.

DNA Mutation “Fingerprint Database” Identifies Cancer Causes

Cambridge and London researchers have created a database of DNA mutation “fingerprints” which can be used to determine the environmental factors contributing to a patient’s tumour. The study, published in Cell journal, can determine 41 different environmental agents linked to cancer, including the traces left in lung tumours by chemicals linked particularly to tobacco smoke.

Link Between Enhancers and Gene Activation Fleshed Out

The rules that cells use to determine which genes they must activate and under what conditions have been further uncovered by scientists at New York University. The findings develop the understanding around how gene variants affect phenotypic traits.

CRISPR Identifies Cancer Drug Targets

A team from the Wellcome Trust Sanger Institute and Broad Institute have used CRISPR-Cas9 to identify key genes required for cancer survival. Over 18,000 genes from 30 different cancer types were screened, a computational framework then developed to prioritise the 600 most promising drug development targets.

New “Allelic” Gene Drive Replaces Faulty Genes with Preferred Versions

Scientists at the University of California San Diego have created a new version of a gene drive which could lead to spreading specific, favourably genetic variants through a population. This “allelic drive” uses a guide RNA to direct CRISPR to cut undesired gene variants and replace them with better versions of the gene.

“Shredder” CRISPR Technique Goes Beyond Normal Snipping Mechanism

An international team of scientists has developed a new gene editing tool which goes beyond the usual mechanisms of CRISPR, acting instead as a “shredder” which can delete large stretches of DNA with programmable targeting. The technology was also shown to work in human cells for the first time.

Using Immune Cells to Predict Cancer Outcomes

Certain changes in immune cells within cancerous tumours which reflect how tumours behave in common cancers could see better treatments created in the future. The study, conducted by researchers from the University of Edinburgh, also discovered a set of genes expressed at high levels in breast cancer tumours, and often linked to more aggressive types of cancer.

Two Studies Find Reasons for IO Drug Resistance

Two separate studies have uncovered insights into why checkpoint-inhibiting immune-oncology (IO) drugs only work for a minority of patients, even when combined with other treatments. The first study uncovered a resistance mechanism within the gut microbiome, while the other relates to cancer cell-produced vesicles.

Effects of Poverty Make Their Mark on 1,500 Genes in the Body

A study conducted by Northwestern University researchers has found that long-term poverty can be “embedded” across the genome. Lower socioeconomic status was found to be associated with levels of DNA methylation, a key epigenetic mark that can influence expression, across more than 1,500 genes.

Depression Not Caused by Genetics Alone, Study Finds

A new large-scale study of depression, analysing more than 620,000 individuals, has found that there is no single gene for the disorder, rewriting years of hypotheses and striking a blow to clinical agencies who hoped to create diagnostic tools and treatments for the faulty genes.