Testing

Direct to consumer testing can potentially be quite dangerous without appropriate regulations and support to fully understand the implications of the information a consumer receives.

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.

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.

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.

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.

Gene Drives Found to Work in Mice for First Time

Scientists working at the University of California have developed a form of gene drive to control the inheritance of multiple genes in mice. Until now, such technology has been limited to the control of inheritance in insects only.

Festival of Genomics 2019 – Festival Highlights

With so many talks and panels occurring across our four stages and Live Lounge, we understand that it can be pretty hard to pick out the most unmissable discussions at the festival this year. Given the conundrum, we thought we’d help out! We’ve selected a couple of talks and panels occurring across the two days which we think will be incredibly interesting and enormously informative for a whole range of people.

New tRNA Sequencing Method Uncovers Microbiome Activity

A new high-throughput sequencing technique created by scientists at the University of Chicago will uncover how naturally occurring microbiomes respond to real-world conditions and diets. The technique, outlined in Nature Communications, directly analyses transfer RNA (tRNA) to give a clear picture of microbial communities’ reactions to environment changes including temperature variations and nutrient availability.