Healthcare

Genomics will change what patients expect from their provider, as well as change how physicians treat them. Before this happens, education on both sides is needed. This month we look at some of the big talking points.

Genomic Innovations Will Bring Increased Legal Action

Questions around legality, protecting privacy and ensuring quality of data in DNA sequencing all need answering, a symposium recently held at the University of Minnesota has announced. LawSeq, a $2 million project looking to solve the issue of privacy and legality in sequencing, is exploring how to ensure the legal world catches up with current science.

New Polygenic Risk Score Gives Hints Towards Obesity Risk

A new polygenic risk score tested data from 300,000 people to forecast risk of obesity. The study found that 10% of adults with the highest genetic risk were 25 times more likely to become severely obese than the 10% whose genes were most likely to keep them slim.

The Rise of Population-scale Genomic Projects for Pharma R&D Investments

Genetic research is a big data problem without researchers generally having access to this “big” genomic and medical data. Not only has it been nearly impossible to access enough relevant data to support research, but analysing the data has been slow and challenging due to its sheer volume. To counter this, in recent years a number of pharmaceutical companies have announced large-scale collaborations around genomic data to uncover novel drug targets, validate existing drug pipelines, predict response, and expand therapeutics use. We discuss some of the biggest and most recent.

The One-Stop Guide to Genomic Data, Courtesy of Front Line Genomics

Front Line Genomics’ “Biodata Analysis and Management – Genome Analytics, Interoperability, and Data Life Cycle” report isn’t just an update of our old Genomic Data 101 guides: packed with new information on AI and machine learning,. data discoverability and data interoperability, it is much much more.

Patients with Rare Diseases Identified Through Genomics England’s Discovery Forum

Two companies with access to data from the 100,000 Genomes Project have identified patients with previously undiscovered life-threatening kidney and neurological diseases. The companies, Alexion and BioMarin, were part of Genomic England’s Discovery Forum, which grants certain industry research proposals access to data from the project after vetting.

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.

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.

Amazon Alexa Now HIPAA-Compliant Thanks to Tool Kits

Amazon has announced that new software for its Alexa virtual assistant will allow healthcare companies to build tools which can safely send private information to patients. The announcement was accompanied by the launch of six voice programs created by health companies including Boston Children’s Hospital and digital health company Livongo.

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.