In the largest study of its kind, scientists have shown how combining health data with whole genome sequence (WGS) data could help doctors provide cancer patients better tailored care. The study analyzed over 30 types of solid tumors collected from more than 13,000 cancer patient data from Genomics England’s 100,000…

Fore Genomics has launched its FORESITE 360 whole genome sequencing (WGS) service, which provides a complete DNA map of newborns, infants, and children using an at-home collection kit. The company says FORESITE 360 reveals genetically linked and clinically manageable diseases a baby or child might have now or could develop…

Sequencing company PacBio, exome and genome testing and interpretation company GeneDx, and the University of Washington announced today a collaboration to assess the use of long-read whole-genome sequencing (WGS) to increase diagnostic rates in pediatric patients with genetic conditions. Under the collaboration, GeneDx will perform sequencing and analysis of samples…

Genomics England and medical imaging company Sectra announced that they completed the deployment of Sectra enterprise imaging system to manage radiology and pathology imaging from a number of National Health Service (NHS) trusts. The system will now enable Genomics England to combine their whole-genome sequencing data with digital pathology and…

Already well known for its groundbreaking effort to rapidly diagnose and treat newborn children with rare, often life-threatening diseases, Rady Children’s Institute for Genomic Medicine (RCIGM) announced it has launched a novel program to evaluate the scalability of new diagnostic and precision medicine that screens for approximately 400 genetic diseases…

Rapid, whole-genome sequencing (WGS) of critically ill infants when integrated with transcriptomic and functional data can provide for rapid diagnoses and improvements in care, according to an abstract of an Australian study presented Sunday at the European Society of Human Genetics (ESHG). The data, the researchers suggest could be used…

Whole genome sequencing (WGS) picked up 31% more rare genetic disorders than standard tests in a study of families with suspected mitochondrial diseases. The study, which recruited patients through the UK’s 100,000 Genomes Project, was published this week in the British Medical Journal. “We recommend that whole genome sequencing should…

Long-read sequencing platform company Pacific Biosciences (PacBio) announced today a multi-year collaboration with genetic test provider Invitae to begin development of a production-scale high-throughput sequencing platform with the intent to broaden Invitae’s testing capabilities via PacBio’s HiFi sequencing platform. The terms of the collaboration were not released, though the companies…

A new whole-genome sequencing (WGS) study offers clues about the development of colon cancer in patients with inflammatory bowel disease (IBD).  Researchers found the rate of DNA change in cells affected by IBD was more than double that in healthy cells. The study also found that IBD-associated chronic inflammation disrupts…

A study of the genomes of 152 Finnish people with diabetes has found several genes potentially involved in the development of diabetic nephropathy, a condition that affects about 25 percent of people with Type 1 or Type 2 diabetes. Yet, finding the genetic links between the two diseases has been…

In a surprising result, a new clinical genomic trial in neonates in the NICU setting found no major difference in the diagnostic rate between whole genome sequencing (WGS) and whole exome sequencing (WES). The randomized clinical study, A Randomized Controlled Trial of the Analytic and Diagnostic Performance of Singleton and…

Bioinformatics company Seven Bridges, announced it has been selected by the UK Biobank to process and analyze the full genomes of 50,000 volunteers that are part of the vanguard phase of the project. The initiative by UK Biobank was announced in early April 2018 along with £30 million ($38.1 million)…

Illumina said it has agreed with Children’s Hospital of Fudan University in Shanghai to conduct rapid whole genome sequencing (rWGS) in the hospital’s neonatal intensive care unit, with the goal of assessing how feasibly the technology can be applied in the NICU toward diagnosis of critically ill infants. The project…

BGI Americas, the U.S. subsidiary of BGI Genomics, will partner with AiLife Diagnostics to jointly develop and market a clinical whole genome sequencing (WGS) solution designed to diagnose genetic disorders, the companies said today. The collaboration—whose value was not disclosed—is intended to combine BGI’s DNBseq next generation sequencing (NGS) technology…

  Stephen Kingsmore, M.D., Rady Children’s Institute for Genomic Medicine What are the most significant advances in precision medicine over the past five years? Whole genomic sequencing and whole exome sequencing are eliminating the phenomenon of the diagnostic odyssey for rare genetic disease: It’s realistic today to have a genome…