Precision and digital medicine: transforming the patient journey and medical education by Bryn Roberts and Luke Roberts Motivation We’d like to start with a story, a story of a life transformed – a family transformed – through the application of genomics in precision diagnostics. Jessica has a rare disease that affected her early development due [...]
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Precision Medicine: Dx leads to Rx by Mridula Iyer, PhD and Yuri Fesko, MD, Quest Diagnostics, Secaucus, NJ The right medicine for the right patient, that’s the principle behind the Precision Medicine Initiative, originally focused on leveraging global investments in cancer and genome sequencing (superseded by All of US). More recently, the approach has grown [...]
Congenica Completes $50m Series C Funding Round to Advance Clinical Genomic Analysis Software and Data Platform
Congenica, the digital health company enabling rapid and accurate analysis of complex genomic data to transform people’s lives, is pleased to announce the completion of its Series C funding round, raising US$50m/£39m. The round was co-led by Tencent and Legal & General and included other new investors Xeraya, Puhua Capital and IDO Investments. Existing [...]
As clinical whole-genome sequencing (WGS) is becoming more of a routine diagnostic test for certain patients with genetic disorders, the Broad Institute has launched a new end-to-end WGS and variant interpretation service in partnership with genome analysis company Fabric Genomics. Priced at $1,000 per sample, the new test promises to be competitive with other [...]
ARCHIVE ISSUES - MARCH 2023 Drugmakers Still Betting on Anti-Amyloid Approach in Alzheimer’s Amid Skepticism Less-Buzzy JP Morgan Still Provides Insights Into Companies’ Precision Medicine Plans Rare Single-Gene Variants Confer High Risk for Mentalm Health Conditions, Geisinger Study Shows Genomic Medicine Adoption May Be Hindered by Shortcomings [...]
ARCHIVE ISSUES - DECEMBER 2022 Measurable Residual Disease Detection in Hematological Malignancies: A Review from Research Tool to Clinical DiagnosticSpatialomics delivered to the clinic for improved health outcomes in Barrett’s esophagusImplementation of Novel Precision Medicine Workflows in the Community Oncology SettingWhy Exosomes Will Power Companion Diagnostic Development [...]
Helix has developed a "sliding power window" population genomics method that allows researchers to maintain the statistical power of analyses involving numerous rare variants spread throughout a broad population. In a medRxiv preprint posted last month, the firm used this technique to identify a subset of people with atrial fibrillation and carrying truncated variants [...]
Rady Children’s Institute for Genomic Medicine Partners With Inozyme Pharma on NGS Newborn Screening
Inozyme Pharma said on Thursday that it has partnered with the Rady Children's Institute for Genomic Medicine (RCIGM) on whole-genome sequencing-based newborn screening for genetic diseases. Through the BeginNGS consortium, the partners will use whole-genome sequencing-based newborn screening to identify infants affected by ENPP1 deficiency and ABCC6 deficiency. Inozyme is developing a novel therapy, [...]
BabySeq, the next-generation sequencing-based universal screening program for newborns, is gearing up for a second, expanded study. The lead researchers said they want the four-year, $5.1 million grant to help address a lack of diversity in the first cohort. The original BabySeq cohort was not diverse and thus the findings are not generalizable, according [...]
Genomenon®Inc., an AI-driven genomics company, today announced the completion of a $20 million Series B financing round. The funds will expand the company’s commercial operations and the development of its genomic data hub, which serves genetic testing labs, hospitals, pharmaceutical and biopharma companies. Genomenon leverages AI (Artificial Intelligence) to organize the world’s genomic knowledge [...]