News for the month of December 2022
Funding & IPO
- Biomica Raises $20 Million in a Financing Round to Advance its Pipeline of Microbiome-based Therapeutics
- Vial reels in $67M in series B fund raising; adds NEXT Oncology to network
Mergers & Acquisitions
Precision Medicine
- Precision Medicine Asia and National Cancer Center Hospital East Announce the Initiation of the LC-SCRUM-AP Genomic Screening Platform for the Asia-Pacific Region
- Guardant Health and Susan G. Komen® Partner to Develop Clinical Studies to Identify Early-Stage Breast Cancer Patients Who May Benefit From Additional Monitoring or Therapy
- WellSpan Health and Helix announce partnership to improve patient health outcomes through new population genomics program
(Genomics) Data Platform / Analysis / Instruments
- Congenica awarded second stage of European contract to develop NGS analysis workflow in oncology for a group of seven Central European hospitals represented by the Medical University Graz.
- Element Biosciences announces Avidity Cloudbreak technology, improvements to chemistry kits for the current Element AVITI™ System that reduce run times and enable even more applications
Genomic/Genetic Testing/CDx/Liquid Biopsy
- Foundation Medicine Receives FDA Approval for FoundationOne®Liquid CDx as a Companion Diagnostic for a Certain Group of Tyrosine Kinase Inhibitors for Treatment of Non-Small Cell Lung Cancer Patients
- Agilent Resolution ctDx FIRST Receives FDA Approval as a Liquid Biopsy Companion Diagnostic Test for Advanced Non-small Cell Lung Cancer
- Exact Sciences Presents First Time Data Detailing Ability to Predict Radiation Therapy Benefit in Breast Cancer Patients
- QIAGEN receives FDA approval for companion diagnostic to Mirati Therapeutics’ KRAZATI in non-small cell lung cancer
- Dante Genomics launches doctor ordered, clinical whole genome sequencing in the U.S. in partnership with 1health.io
Single Cell / Spatial Omics
- Mission Bio and Abiosciences Partner to Co-develop Bioinformatics for Clinical Research Applications in China
- 10x Genomics Commercially Launches Xenium Platform for In Situ Analysis
Miscellaneous
- Quantori Partners with Databricks to Accelerate Data-Driven Innovation in the Life Sciences and Healthcare Industries
- US Survey Signals Big Shifts in Primary Care to Pharmacy & Clinic Settings as Consumers Seek Lower Medication and Healthcare Costs
COVID-19 / SARS-CoV-2
- World’s first open access dashboard reveals neighborhood-level trends of COVID-19 from wastewater-based epidemiology A partnership between the City of Tempe, AZ, and Arizona State University first employed this technology to track opioid use in May 2018, and display results on the world’s first open access dashboard to provide the public, fire departments, and first responders with actionable data to inform implementation of interventions. With the logistics and infrastructure for population health monitoring in wastewater already in place, the City of Tempe and ASU were able to rapidly pivot to detecting SARS-CoV-2 in wastewater in April 2020 during the onset of the pandemic.
Publications
- Prostate Cancer Transcriptomic Regulation by the Interplay of Germline Risk Alleles, Somatic Mutations, and 3D Genomic Architecture
- Deep top-down proteomics revealed significant proteoform-level differences between metastatic and nonmetastatic colorectal cancer cells
- New method predicts the right treatment for breast cancer patients
- Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
- A robust host-response-based signature distinguishes bacterial and viral infections across diverse global populations Describes a new gene expression-based test which could allow doctors around the world to quickly and accurately distinguish between bacterial and viral infections, thereby cutting down on antibiotic overuse. The test is based on how the patient’s immune system responds to an infection.
- Covert pre-leukaemic clones in healthy co-twins of patients with childhood acute lymphoblastic leukaemia Study confirms that childhood leukemia starts in the womb and could help guide screening when only one twin is affected
- Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy
- The blood virome of 10,585 individuals from the ChinaMAP Whole genome sequencing helps construct the first blood virological profile of Chinese population
- Validation and real-world clinical application of an artificial intelligence algorithm for breast cancer detection in biopsies
- Principles of gene regulation quantitatively connect DNA to RNA and proteins in bacteria
- Exploring the genetic overlap between twelve psychiatric disorders This genome-wide association study is looking into the genetic overlap between 12 common psychiatric disorders. The paper describes the profiling pleiotropic genetic incidences to 12 common psychiatric
- Genetic diversity fuels gene discovery for tobacco and alcohol use
- New method for early detection of multi-cancers based on human metabolism
- Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants Large study of the international CARDIoGRAMplusC4D consortium compiled and analyzed DNA data from more than 1 million people, including more than 200,000 with coronary artery disease. The researchers discovered 68 new genome regions, or loci, associated with increased risk for CAD, bringing the total to more than 250
- Structural variants drive context-dependent oncogene activation in cancer
- Machine learning predicts risk of opioid use disorder for individual patients
News for the month of November 2022
Some of the biggest news during the month of November was the FDA approval of Hemgenix, a CSL Behring and uniQure hemophilia B gene therapy. Hemagenix is a one-time treatment and currently the most expensive therapeutic in the world with an eye-popping price tag of $3.5M per dose. However, since patients with moderate to severe hemophilia B can cost the healthcare systems more than $20M over their lifetime, the drug – in spite of its staggering price – is argued to generate “significant cost savings for the overall healthcare system” and “significantly lower the economic burden of hemophilia B by reducing annual bleed rates”.
Other news included a report on a multi-institutional team study that examined a large Alzheimer’s disease cohort of over 1800 people: The research findings help explain the progression of Alzheimer’s-related dementia in each patient, outlining a multilevel biological classification system that predicts disease severity and future neurological symptoms. The result is a unified epigenomic, transcriptomic, proteomic, and metabolomic taxonomy of Alzheimer’s disease progression and heterogeneity. In other news, researchers reported on the development of a new method to map the spatial evolution of cancers, which entailed a genetic clone mapping workflow centered around base-specific in situ sequencing (BaSISS) technology to derive quantitative maps of multiple genetic clones of cancer cells. Lastly, a comprehensive whole genome sequencing study identified 134 genes linked with autism and a range of genetic changes, most notably gene CNVs, likely to be associated with autism, including ASD (autism spectrum disorder)-associated rare variants in about 14% of participants with autism. The study used whole genome sequencing (WGS) to examine the entire genomes of over 7,000 individuals with autism as well as an additional 13,000 siblings and family members.
Funding & IPO
- Maven Clinic Announces $90 Million Series E Round of Funding Amidst Seismic Changes in Women’s and Family Health
- Curavit reaps $5M in series A funding to fuel decentralized trial growth
- Opna Bio Launches with $38 Million Series A Financing to Advance Novel Oncology Discovery Program and Diversified Pipeline of Clinical and Preclinical Programs
- US Tech Startup SubjectWell Secures $35 Million in Investment, Focuses Growth in South African Operations
- Casma Therapeutics Raises $46.0 M in Series C Funding
- Debiopharm leads $6M round for YonaLink to Scale Global Growth and Fuel Expansion of Platform Designed to Stream Clinical Trial Data The funding will be used to expand YonaLink’s EHR-to-EDC integration platform
- Ibex Medical Analytics Secures $10M Funding
- Codetta Biosciences and North Carolina Central University Receive $2M Grant from the North Carolina Collaboratory Codetta is developing an integrated platform of reagents, hardware, and software designed to enable highly multiplexed, quantitative, simultaneous multi-omic analyses
- LevitasBio Completes $35M Series C Financing Round The funding will support acceleration of the development of next generation high-throughput instruments for sample processing and analysis
- Concerto Biosciences Raises $23 Million in Series A to Advance Product Development, Expand Pipeline
Mergers & Acquisitions
Precision Medicine
- 1+ Million Genomes Initiative: Ireland and France join the EU initiative on genetic data-sharing for research
- BC Platforms Partners with EU Funded, AI-Driven, Cancer Data Initiative Helsinki University Hospital (HUS), has been awarded a contract to lead a EURO 7 million (approx. USD 7.2 million) consortium project termed ONCOVALUE. BCP will work closely with HUS as a key delivery partner in this major EC project
- Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy New guidance in Canadian Medical Association Journal (CMAJ) lays out the key elements for obtaining patient consent for researchers and policymakers in this growing field
(Genomics) Data Platform / Analysis / Instruments
- MGI announces European launch of new MGISP-Smart 8 automated sample preparation system and empowerment program at MEDICA to further access to genomics
- Element Introduces New Element LoopSeq™ Long-Read Sequencing Kits Designed for the AVITI™ System
Genomic/Genetic Testing/CDx/Liquid Biopsy
RWD / RWE
Miscellaneous
- AWS launches new genomics data service for life sciences, healthcare companies
- FDA Approves First Gene Therapy to Treat Adults with Hemophilia B
- Epic designs version of EHR more accessible to Apple users
- Ferring Receives U.S. FDA Approval for REBYOTA® (fecal microbiota, live-jslm) – A Novel First-in-Class Microbiota-Based Live Biotherapeutic
- AlphaFold’s new rival? Meta AI predicts shape of 600 million proteins
- Salesforce Unveils Patient 360 for Health innovations to Improve Patient Outcomes
- Amazon’s leaked ‘Clinic’ would connect patients to telemedicine
- Cleveland Clinic to bill up to $50 for MyChart messages
- Carl H. June Awarded the Inaugural Maria I. New International Prize for Biomedical Research
- FDA approves first drug to delay onset of type 1 diabetes Teplizumab (Tzield) targets the autoimmune issues that drive the disease, rather than its symptoms, making the medication a game changer
- Medidata Launches Rave Companion, the First Scalable Solution for Automating EHR Data Entry into Rave EDC
- Investing just $40 million new dollars in lung cancer research related to women has dramatic impact on US economy
CRISPR / Cas9
- New CRISPR-based tool inserts large DNA sequences at desired sites in cells The new tool called PASTE can snip out faulty genes and replace them with new ones, in a safer and more efficient way
COVID-19 / SARS-CoV-2
- Study: SARS-CoV-2 spike protein binds and modulates estrogen receptors
- GeNeuro Announces Recruitment of First Patients in All Five Swiss Centers in the First Personalized Medicine Clinical Trial Against Long-COVID Assessing Temelimab
- New CRISPR/Cas9 license agreement for ERS Genomics and Cosmo Bio
Publications
- Global, in situ analysis of the structural proteome in individuals with Parkinson’s disease to identify a new class of biomarker Protein shapes indicate Parkinson’s disease
- Unified epigenomic, transcriptomic, proteomic, and metabolomic taxonomy of Alzheimer’s disease progression and heterogeneity
- Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features Study reports the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in clinical trials as part of the United Kingdom’s 100,000 Genomes Project
- Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease The study compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals—16,036 AD cases and 16,522 controls
- Research team explores ‘treasures’ from discarded data in cancer research
- Spatial genomics maps the structure, nature and evolution of cancer clones
- Non-viral precision T cell receptor replacement for personalized cell therapy Describes a new cancer therapy approach which combines several cutting-edge technologies to provide perhaps “the most complicated” treatment ever given
- Human bone marrow organoids for disease modelling, discovery and validation of therapeutic targets in hematological malignancies Researchers make miniature ‘bone marrows in a dish’ to improve anti-cancer treatments
- Genomic architecture of autism from comprehensive whole-genome sequence annotation The largest whole genome sequencing analysis to date has uncovered new genes and genetic changes associated with autism spectrum disorder (ASD) – study reveals 134 autism-linked genes.
- Gene interaction perturbation network deciphers a high-resolution taxonomy in colorectal cancer Gene interactions classify bowel tumors for personalized medicine
- Specialist multidisciplinary input maximizes rare disease diagnoses from whole genome sequencing This new study finds that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases
- A rapid high throughput bioprinted colorectal cancer spheroid platform for in vitro drug- and radiation-response
News for the month of October 2022
The next-generation sequencing (NGS) sector has seen a lot of activity this year. We have witnessed new companies – Singluar Genomics, Ultima Genomics, Element Biosciences – and new products being launched, while established Illumina made a splash as well, unveiling just last month the NovaSeqt™ X Series. Now PacBio followed this trend at this year’s ASHG conference in LA with the announcement of the launch of two, new instruments: 1) Onso, a short-read instrument using the short-read technology of Omniome, a recently acquired company, and 2) Revio, a new long-read platform, which will replace their Sequel IIe platform. The Revio platform is said to be 15x more powerful than the current Sequel IIe system with a redesigned, denser SMRT Cell using the same highly accurate Hi-Fi chemistry. The Revio platform will be ready to ship in the first quarter of 2023, with the Onso platform following in the first half of 2023.
Additional sequencing/mapping platform announcements made at ASHG included, the US commercial launch of the DNBSEQTM sequencing product line by Complete Genomics, part of MGI, Nabsys revealing details about their next-generation whole-genome mapping technology, and Oxford Nanopore announcing the rollout of its PromethION 2 (“P2”) Solo sequencer.
Funding & IPO
- Eagle genomics announces USD 20M first close; scale-up funding to accelerate the application of microbiome science for global ‘one health’ innovation
- Tempus Raises $275M To Combat Three Of Drugmaking’s Biggest Challenges Tempus raised $275 million through equity from previous investors and debt financing. The company has raised over $1.3 billion in total
- QuantHealth Raises $2.6 Million Seed Round to Provide Comprehensive Clinical Trial Simulation Solution
- Resolve Biosciences Secures $71 Million Series B Financing to Accelerate Commercial Expansion to Meet Global Demand for Molecular Cartography™ Workflow
- Viome Life Sciences Announces $67 Million in Funding towards Series C Financing Round
- Prenuvo Raises $70M Series A Led By Felicis to Reimagine Preventive Healthcare
- Gabbi Raises $4.4 Million to Bring Breast Cancer Early Detection Support Directly to Women
- Odyssey Therapeutics Announces Oversubscribed $168 Million Series B Financing
- FDA Awards 19 Grants and Two Contracts Related to Rare Diseases, including ALS 19 new grants and two new contracts totaling more than $38 million in funding over the next four years to support clinical trials, natural history studies and regulatory science tools related to rare diseases
Mergers & Acquisitions
- Alexion, AstraZeneca Rare Disease to Acquire LogicBio® Therapeutics to Accelerate Growth in Genomic Medicine The proposed acquisition aims to rapidly accelerate Alexion’s growth in genomic medicines through LogicBio’s unique technology, experienced rare disease R&D team, and expertise in pre-clinical development.
- Bio-Rad, Qiagen are in talks over $10B merger
Precision Medicine
- Sema4|GeneDx Announces Results from Phase 1 of SeqFirst Study, Demonstrating Broad Utility of Rapid Whole Genome Sequencing for Critically Ill Newborns
- Sema4|GeneDx To Provide Whole Genome Sequencing and Interpretation Services for Landmark Genomic Newborn Screening Study The partnership recently launched the GUARDIAN study (Genomic Uniform-screening Against Rare Diseases In All Newborns), a collaboration consisting of non-profit, academic, government, and industry organizations. GUARDIAN is using whole genome sequencing (WGS) to screen 100,000 newborns for more conditions than those currently included in standard newborn screening.
- GSK is paying $70 million to plug into Tempus’ AI-enabled patient data platform with the aim of improving its clinical trial design, speeding up enrollment and identifying new drug targets.
- Pierian® and P4 Diagnostix® Collaborate to Help Physician-Owned Laboratories
- PacBio Collaborates with Leading Researchers to Establish Long-Read Variant Frequency Consortium The Consortium Will Build a Publicly Available Database as a Resource to Accelerate Insights from Long-Read Human Genome Datasets
- Scaling Genetic Counseling to Meet Demand: Version 7 of Igentify’s Digital Genetic Engine Released
- Omica.bio and GenoBank.io Partner to Drive Transparency in Genomic Research in Latin America
- Rady Children’s Institute for Genomic Medicine and PlumCare RWE Partner to Expand Newborn Screening Program to Greece
- GRAIL and Carrum Health Partner to Include Galleri® as Part of Comprehensive Cancer Care Offering to Employers
(Genomics) Data Platform / Analysis / Instruments
- Oxford Nanopore Opens Genomics Market With PromethION 2 Solo: The World’s First Portable, High Yield Sequencer Providing Comprehensive DNA Analysis for Anyone, Anywhere
- G42 Healthcare Strengthens Clinical Genomics Offering with Saphetor’s VarSome Bioinformatics Platform
- Almaden Genomics Announces Launch of G.Nome Platform
- PacBio Announces Revio, a Revolutionary New Long Read Sequencing System Designed to Provide 15 Times More HiFi Data and Human Genomes at Scale for Under $1,000
- Complete Genomics, part of MGI, Announces Next-Generation Sequencing Platforms (ASHG)
- PacBio Announces Onso, the Highly Accurate Short-Read Sequencing Platform (ASHG)
- Rajant Health Inc. Unveils Omics Analysis Service – Trovomics
- Nabsys reveals new details about their next generation whole-genome mapping technology and partnership with Hitachi High-Tech (ASHG)
- Complete Genomics, part of MGI, Announces Next-Generation Sequencing Platforms at ASHG Annual Meeting (ASHG)
RWE / RWD
Single Cell / Spatial Omics
- Oxford Nanopore Technologies Announces New Collaboration With 10x Genomics to Make Single-cell and Spatial Full-length Isoform Transcript Sequencing Accessible to Any Laboratory
- Parse Biosciences Announces Cloud Analysis Platform to Simplify Single Cell Analysis (ASHG)
Artificial Intelligence / Machine Learning
- Google Cloud Delivers on the Promise of AI and Data Interoperability with New Medical Imaging Suite
- Artificial intelligence in histopathology: enhancing cancer research and clinical oncology
Miscellaneous
- Apple Will Launch Health Insurance In 2024, Says Analyst
- New Partnership between Gladstone Institutes and CZ Biohub
- The Nobel Prize in Physiology or Medicine 2022 goes to Svante Pääbo accomplished something seemingly impossible: sequencing the genome of the Neanderthal, an extinct relative of present-day humans.
- Walmart to compete with Walgreens, CVS in recruiting clinical trial subjects
CRISPR / Cas9
- CRISPR Spherical Nucleic Acids A team of researchers at Northwestern University has devised a new platform for gene editing that could inform the future application of a near-limitless library of CRISPR-based therapeutics.
- Precise DNA cleavage using CRISPR-SpRYgests
Publications
- Multiomics study of nonalcoholic fatty liver disease Scientists at deCODE genetics have discovered rare, protective loss-of-function variants that point to potential drug targets for nonalcoholic fatty liver disease (NAFLD)
- Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models Study describes the long-range effects of coding and non-coding MEF2C variants in human neuronal cell lines, and suggest both indirect and direct disruptions of the gene can have similar downstream effects.
- 3D map reveals DNA organization within human retina cells Describes discovery of a new drug-resistance mechanism in breast cancer
- High-resolution genome topology of human retina uncovers super enhancer-promoter interactions at tissue-specific and multifactorial disease loci 3D map reveals DNA organization within human retina cells
- The blood virome of 10,585 individuals from the ChinaMAP
- Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE
- A saturated map of common genetic variants associated with human height Largest ever genome-wide association study, using the DNA of over 5 million people from 281 contributing studies. The 12,111 variants, which cluster around parts of the genome associated with skeletal growth, provide a powerful genetic predictor for height. The variants identified explain 40% of the variation in height for people of European ancestry, and around 10-20% for those of non-European ancestry.
- RAS oncogenic activity predicts response to chemotherapy and outcome in lung adenocarcinoma Unique gene signature could help predict response to chemotherapy
- Exclusion cycles: Reinforcing disparities in medicine Suggests that health care artificial intelligence gets biased data that creates unequal care
- Is ‘frozen shoulder’ a genetic condition? Study finds links to specific genes
- Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function
News for the month of September 2022
The September news highlights were manifold and included Illumina unveiling the NovaSeqt™ X Series by adding Chemistry X to its NovaSeq system with the result of more data, faster cycle times, and all that at a reduced cost (suggesting that the new cost per human genome will be $200). DeepMind announcing that they have expanded their company’s database of folded proteins to more than 200 million – astoundingly, nearly all catalogued proteins known to science, including those in humans, plants, bacteria, animals, and other organisms – and that the company is making the AlphaFold Protein Structure Database publicly available at no cost. In other news, Governor Newsom signed the California Cancer Care Equity Act (SB 987), which will expand access to specialized cancer care for Medi-Cal patients who receive a complex cancer diagnosis. This will enable the most vulnerable populations of California to gain access to optimal cancer care services more easily, such as genomic testing, precision medicine-based care, subspecialty expertise, and targeted clinical trials. On the business side, Illumina received a decision from the European Commission prohibiting the company’s acquisition of GRAiL, which Illumina intends to appeal. On the other hand, in the US the company was issued a ruling by a US Federal Trade Commission judge in favor of Illumina’s acquisition.
On the science side the tool SigProfilerExtractor was used to uncover novel mutational signatures by de novo extraction from 23,827 sequenced cancers and found four mutational signatures, including one that ties bladder cancer to tobacco smoking. Furthermore, the potential of precision genome editing in treating inherited retinal diseases (IRDs) was described showing preclinical success and demonstrating that there is hope that in vivo gene editing will be the future treatment paradigm for IRDs. And lastly, lecanemab, the Alzheimer’s drug from Eisai and Biogen, met the study’s main and secondary goals, reducing clinical decline over 18 months compared to a placebo which potentially indicates a game changer for this therapeutic paradigm which had seen many challenges with little success in the past..
Funding /IPO
- Salk Institute to lead $126 million effort to map the aging human brain The largest grant in Salk history will be used to establish new Center for Multiomic Human Brain Cell Atlas to detail the many individual cells that make up the human brain—their molecular features, where they are found and how they change with age
- Optellum, AI Lung Cancer Diagnosis Innovator, Secures $14M Series A Funding to Accelerate Expansion
- Pheon Therapeutics Launches with $68 Million in Financing to Advance Novel Antibody-Drug Conjugates for Treatment of Solid Tumors
- Geneial Receives $2.3M NIH Grant to fund decentralized data platform facilitating research of rare genetic diseases
- Howard University Awarded $11.5 Million From Chan Zuckerberg Initiative To Expand Genomics And Genetics Research Capacity
- Illumina Accelerator Invests in the Fifth Global Funding Cycle of Startups Advancing Breakthrough Therapeutics, Diagnostics, Women’s Health, and Sustainable Agriculture Applications The genomics companies that join the Illumina Accelerator include Acrobat Genomics Inc. (CIRSPR-based drug discovery), Dama Health Ltd. (a women’s health company), Nusantics Pte. Ltd. (developing microbiome-related diagnostic tools), Pandora Biosciences Inc. (neuroscience company building organoid-based disease models), Terrapeutics Pharma Ltd. (drug discovery company), and Viridian Seeds Inc (agricultural biotechnology company).
- Carver Biosciences Launches with Seed Financing to Advance CRISPR/Cas13-based Technologies Funding round was led by Khosla Ventures
- bioAffinity Technologies, Inc. Announces Closing of $7.8 Million Initial Public Offering
- Elephas Announces $41.5 Million in Series B Funding
- NIH awards $3.35M to promote diversity in genomics training
- Verily Announces $1 Billion Investment Round to Fund Continued Growth and Shares Changes to Leadership Team
Precision Medicine
- DNAnexus Selected as Platform Provider of the Trusted Research Environment for UK’s Largest Health Research Program
- Implementing precision medicine in a regionally organized healthcare system in Sweden Demonstrates the successful implementation of precision medicine at a national level
- Caris Life Sciences and Flatiron Health Partner to Vastly Increase Access to Most Comprehensive Molecular Testing Available
- Genome Medical and Pierian Announce Collaboration to Optimize Genomic Testing Programs
- GRAIL Announces Final Results From the PATHFINDER Multi-Cancer Early Detection Screening Study at ESMO Congress 2022
- These 3 startups (Power, Trial Library, and Acclinate) are trying to improve diversity in clinical trials, a challenge experts say will take more than just tech
- Broad Institute Partners with Datavant to Scale Clinico-Genomic Research by Connecting Health Data
- Guardant Health Expands Strategic Collaboration With Merck KGaA, Darmstadt, Germany, to Help Accelerate Development of Precision Oncology Therapeutics
(Genomics) Data Platforms / Analysis / Instruments
Genomic/Genetic Testing/CDx/Liquid Biopsy
- P4 Diagnostix® Partners with Pierian to Launch Somatic Testing
- Predicine’s Liquid Biopsy Next-Generation Sequencing (NGS) Assay is Granted Breakthrough Device Designation by U.S. Food and Drug Administration
- Neuron23 and QIAGEN Announce Collaboration to Develop the First Next-Generation Sequencing Companion Diagnostic for Novel Parkinson’s Disease Drug
- Putting liquid biopsies on solid ground: Cancer diagnosis from a milliliter of blood
RWD/RWE
- Truveta Announces Collaboration with Boston Scientific to Advance Post-Procedure Patient Insights and Help Address Healthcare Disparities
- Verantos launches platform for high-validity real-world evidence
- Freenome launches its first study for the detection of multiple cancers that pairs multiomics with real-world data
Artificial Intelligence / Machine Learning
- FDA Releases Guidance on AI-Driven Clinical Decision Support Tools
- AI gives us an astounding new view of life’s basic building blocks DeepMind announced the expansion of the company’s database of folded proteins to more than 200 million — nearly all catalogued proteins known to science, including those in humans, plants, bacteria, animals and other organisms — and that the company is making them publicly available and free.
Miscellaneous
- Google and Fitbit launch new cloud tools to help hospitals use wearables
- Gov. Newsom Signs Landmark Cancer Access Legislation into Law, California Cancer Coalition Celebrates
- Diversity and inclusion in genome-wide association studies – an Illumina sponsored article
- Dante Genomics to innovate universal genomics by now offering easy, at-home blood collection kits for clinical whole genome sequencing without the use of a needle
- EU blocks merger of US (Illumina and GRAiL) firms in cancer screening sector
- Illumina Wins FTC Antitrust Case Over Grail Acquisition Illumina one step closer in completing the GRAIL takeover after one judge ruled the tie-up didn’t violate antitrust law. Illumina is still awaiting the agency’s commissioners final ruling and the EU merger review of the deal remains pending. News reports have said European regulators are likely to block the acquisition. The European Commission found in July that Illumina breached the bloc’s merger rules by completing the Grail takeover before gaining regulatory approval.
- Google and Fitbit launch new cloud tools to help hospitals use wearables
COVID-19 / SARS-CoV-2
- Plasma proteomic signature predicts who will get persistent symptoms following SARS-CoV-2 infection
- Helix & CDC Extend SARS-CoV-2 Genomic Sequencing & Surveillance Collaboration
- Deep mutational scanning identifies SARS-CoV-2 Nucleocapsid escape mutations of currently available rapid antigen tests New method evaluates how mutations to SARS-CoV-2 can affect antibody recognition in rapid antigen tests
Publications
- Precision genome editing in the eye Describes current preclinical successes and clinical genome editing approaches for treating inherited retinal degenerative disease and stresses which demonstrates that there is hope that in vivo gene editing will be the future treatment paradigm for IRDs
- Modeling tissue-specific breakpoint proximity of structural variations from whole-genomes to identify cancer drivers
- A mechanism for oxidative damage repair at gene regulatory elements Provides new insights into junk DNA and how it impacts on neurological disorders such as Motor Neuron Disease (MND) and Alzheimer’s
- Neurons burdened by DNA double-strand breaks incite microglia activation through antiviral-like signaling in neurodegeneration
- Sex-specific epigenetic development in the mouse hypothalamic arcuate nucleus pinpoints human genomic regions associated with body mass index Proposes that obesity is a neurodevelopmental disorder
- Genomics and epigenetics guided identification of tissue-specific genomic safe harbors
- Metabolomic profiles predict individual multi-disease outcomes
- Is primary health care ready for artificial intelligence? What do primary health care stakeholders say? Study looks at impact of artificial intelligence on primary health care
- Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor The tool was used to analyze 23,827 sequenced human cancers. It found four mutational signatures, including the one in bladder cancer tied to tobacco smoking that had not been detected by any other tool. The three other signatures, found in stomach, colon and liver cancers, still warrant further study to see what processes caused them.
- Genomic and epigenomic BRCA alterations predict adaptive resistance and response to platinum-based therapy in patients with triple-negative breast and ovarian carcinomas
- Molecular Tumor Board–Assisted Care in an Advanced Cancer Population: Results of a Phase II Clinical Trial The results published demonstrate that the MTB review process improves overall survival rates for patients with advanced cancer
- Reciprocal interactions between the gut microbiome and mammary tissue mast cells promote metastatic dissemination of HR+ breast tumors
- Actin cytoskeleton remodeling primes RIG-I-like receptor activation Disruption of actin cytoskeleton is key to triggering human immune response – findings potentially lay the groundwork for development of new anti-viral vaccines and treatments
- An intercellular transfer of telomeres rescues T cells from senescence and promotes long-term immunological memory The telomere transfer reaction extended certain telomeres about 30 times more than extension exerted by telomerase.
- Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma
- 3D chromatin maps of the human pancreas reveal lineage-specific regulatory architecture of T2D risk
- Multiplexed, single-molecule, epigenetic analysis of plasma-isolated nucleosomes for cancer diagnostics
- Clinical application of advanced multi-omics tumor profiling: Shaping precision oncology of the future
News for the month of August 2022
During the month of August Mount Sinai announced the launch of a large-scale genetic sequencing project in partnership with the Regeneron Genetics Center. This ambitious program aims to enroll one million Mount Sinai patients over a five-year period. Its goal is to provide researchers with a unique data set that will help them assess the true potential of genetics-based, precision medicine approaches to guide everyday patient care, as well as to generate new insights to guide the discovery and development of potential new therapies. Following the same line of thinking to make data available to the scientific community, the White House directed health and science agencies to make federally funded studies immediately available to the public after publication, a move that open-access advocates have long pressed for but one that threatens to upend the business models of scientific journals, resulting in publishers’ protests.
Other news of the month included Sanofi signing a $1.2B pact with AI-company Atomwise, GenomOncology and Congenica announcing collaborative development of a novel precision oncology solution, Illumina opening a new manufacturing site in China, CVS planning to go into primary care by year-end, a report disclosing how look-alike humans identified by facial recognition algorithms show a significant degree of genetic similarities, and Moderna suing Pfizer, BioNTech for COVID-19 vaccine patent infringement.
Funding / IPO
- Novo Holdings leads $50 million investment in MedGenome to accelerate expansion into new markets and deepen product offerings
- Sanofi signs $1.2B pact with Atomwise in latest high-value AI drug discovery deal
- Nanopath raises $10M Series A for women’s health diagnostics
- Atropos Health Raises $14M in Series A Funding
- 3T Biosciences Debuts with $40 Million Series A Financing
- Digital Diagnostics Closes $75 million Series B Funding
- Atropos Health Announces $14M Series A
- Differentiated Therapeutics Raises $5 Million Seed Round
Precision Medicine
- Thermo Fisher Scientific Launches CE-IVD (IVDD) Next-Generation Sequencing Test and Analysis Software to Expand Access to Precision Oncology Biomarker Testing
- A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
- Medical Device Innovation Consortium Launches Initiative to Improve Accuracy of Next Generation Sequencing-Based Cancer Diagnostics
- Mount Sinai Launches Large-Scale Genetic Sequencing Project with the Regeneron Genetics Center The Program aims to enroll one million Mount Sinai patients over a five-year period, making it one of the most ambitious projects of its kind and the largest Regeneron-supported sequencing effort to date
- Bristol Myers Squibb Provides Update on CheckMate -914 Trial Evaluating Opdivo (nivolumab) Plus Yervoy (ipilimumab) as Adjuvant Treatment of Localized Renal Cell Carcinoma
- GenomOncology and Congenica Announce Collaborative Development of Novel Precision Oncology Solution They aim to develop of a novel CE-IVD Precision Oncology Solution
(Genomics) Data Platforms / Analysis / Instruments
- Illumina opens new manufacturing site in China
- Boston Heart Diagnostics Launches LipidSeq™– An NGS Test for Common Genetic Disorders of Lipid Metabolism
- Congenica Announces Partnership With Avesthagen
- Seven Bridges Announces Research Demonstrating the Advantages of Tailored Pangenome References
Genomic / Genetic Testing / Liquid Biopsy
- Guardant Health Expands Use of Guardant Reveal™ Liquid Biopsy Test for Residual Disease Detection and Recurrence Monitoring to Include Early-Stage Breast and Lung Cancers
- FDA Approves First NGS-Based Companion Diagnostic to Aid in Selecting Non-Small Cell Lung Cancer Patients with HER2 (ERBB2) Activating Mutations (SNVs & Exon 20 Insertions)
- Personalis in Partnership with BC Cancer to Assess Clinical and Economic Benefits of ctDNA for Colorectal and Pancreatic Cancers
- Fulgent Genetics Announces Launch of PCR Based Test to Detect Monkeypox
CRISPR / Cas9 Technology
Artificial Intelligence / Machine Learning
- Abridge raises $12.5M for AI-backed medical scribe
- PathAI Announces Extension of Multi-Year Collaboration Agreement with Bristol Myers Squibb
Miscellaneous
- Illumina Corporate Foundation Expands Support for ASHG’s Learning Center with $175,000 Award – Enables New Content and Accessibility Features
- Publishers protest Biden’s free research plan
- White House directs health, science agencies to make federally funded studies free to access
- A grand test of the Apple Watch in health & a giant leap for data access The Biden administration’s plan to drop the paywall on federally-funded research carries enormous implications for digital health and AI research, promising to expand access to data and improve the reproducibility of scientific findings.
- Amwell to power CVS Health’s virtual care offering
- Digital health-pharma relationships face intellectual property uncertainty
- Primary care has been evolving for years. Expect M&A and partnerships as the market heats up
- DNA Data Storage: The Next Chapter
- Police Used a Baby’s DNA to Investigate Its Father for a Crime
- Source BioScience launches Sanger Sequencing Service in San Diego, CA
- Verogen and Gene by Gene Form Groundbreaking Partnership to Accelerate Adoption of Forensic Investigative Genetic Genealogy
- CVS says it plans to get into primary care by year-end CVS plans to acquire or take a stake in a primary-care company by the end of the year
- Polio virus found in more NY wastewater after recent case
- 2021 ACMG Salary Survey Report Now Available: Report Provides Valuable Industry Salary Information for Medical Genetics Professionals
- Personalis Files Patent Infringement Lawsuit Against Foresight Diagnostics Patents are part of Personalis’ intellectual property portfolio in the field of whole genome-enabled, tumor-informed molecular residual disease (MRD) testing.
COVID-19 / SARS-CoV-2
- Analysis of 6.4 million SARS-CoV-2 genomes identifies mutations associated with fitness
- Using AI to predict COVID surges
- Pfizer and BioNTech Complete Submission to European Medicines Agency for Omicron BA.4/BA.5 Adapted Bivalent Vaccine
- Benefits of new COVID-19 booster targeting variants outweigh any potential risks, experts say
- Moderna sues Pfizer, BioNTech for COVID-19 vaccine patent infringement
- A fast, accurate, equipment-free diagnostic test for SARS-CoV-2 and its variants
Publications
- Developmental Deconvolution for Classification of Cancer Origin Using machine learning to identify diagnosable cancers
- Ascorbate peroxidase-mediated in situ labelling of proteins in secreted exosomes
- Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder
- Oral administration of Blautia wexlerae ameliorates obesity and type 2 diabetes via metabolic remodeling of the gut microbiota
- Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer using Ambry’s +RNAinsight™ test Study found that 1 in 950 had an elusive clinically actionable result that would have been missed by DNA-only testing and combined DNA and RNA testing identified cancer risk in an additional 1 out of 79 patients compared to DNA-only testing
- Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
- Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
- A framework for digital health equity
- Clinical validation of deep learning algorithms for radiotherapy targeting of non-small-cell lung cancer: an observational study
- Look-alike humans identified by facial recognition algorithms show genetic similarities
- Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster
- Spatial profiling of chromatin accessibility in mouse and human tissues
- Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants
- Evaluation of Metagenomic and Targeted Next-Generation Sequencing Workflows for Detection of Respiratory Pathogens from Bronchoalveolar Lavage Fluid Specimens
- Discovering a major contributor to Alzheimer’s disease
- RNA editing underlies genetic risk of common inflammatory diseases
- Nanozyme-catalysed CRISPR assay for preamplification-free detection of non-coding RNAs
- How pathogenic gene variants lead to heart failure
- Machine-learning tool to match treatment for cancer patients
- Pairing imaging, AI may improve colon cancer screening, diagnosis
- Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer
News for the month of July 2022
Two of the top July headlines included Amazon acquiring One Medical, a San Francisco and membership-based primary care service with in-person care and online resources, for $18 per share in an all-cash transaction valued at approximately $3.9 billion, and Invitae laying off more than 1,000 employees in a massive restructuring plan.
Other news focused on several large-scale population studies published in July that demonstrate the power of large data. Regeneron identified rare germline mutations in the gene CIDEB which protects against liver disease by performing a multistage exome sequencing and genetic association analysis (N=542,904 persons data). Researchers at the University of Cambridge investigated the association between alcohol intake and telomere length in over 245,000 participants in the UK Biobank – the study findings indicate that alcohol consumption may shorten telomere length which may have implications for age-related diseases. deCODE genetics/Amgen published the largest set of human whole genome sequences (N=150,119 genomes) to date from the UK Biobank. 13 pharmaceutical companies together with researchers from the UK Biobank presented the largest open-access resource of proteomic data analyzing 1,463 proteins across 54,306 UK Biobank participants – a stunning number of 10,248 primary genetic associations were identified, of which 85% were newly discovered.
Funding / IPO
- Anuva Announces Series A Closure and Enters Into a Strategic Partnership With Helix
- Primary Care EHR Elation Health Raises $50M to Support Independent Primary Care Practices
- Novasenta Completes $40 million Series A to Advance Novel Cancer Therapeutics
- BridGene Biosciences Announces $38.5 Million Series B Financing to Further Develop Its Next Generation Chemoproteomics Platform and First-in-Class Oncology Drugs
- Leonard A. Lauder, Bill Gates and Jeff Bezos Joined by New Partners in $100M Global Research Effort to Answer Urgent Need for Early Detection of Alzheimer’s Disease
- Replay Launches with $55 Million Seed to Reprogram Biology by Writing and Delivering Big DNA
- DTC genetics company Nucleus Genomics raises another $14M million in funding
- Delfi Diagnostics Announces $225 Million Series B Financing to Develop Globally Accessible Portfolio of Liquid Biopsy Tests
- Cartography Biosciences Launches with $57M in initial Funding to Accelerate Precision Immunotherapy with Comprehensive Antigen Profiling
- Manifold Bio Raises $40 Million Series A to Expand In Vivo Biologics Design Platform
- Halo Labs Completes $6M Series C Growth Financing
- Sapient Receives $9.2M Grant for Population-Scale Discovery Mass Spectrometry Analysis
- Faeth Therapeutics raises $47 million to advance clinical trials and feed the fight against cancer
- RefleXion Announces Closing of $125M Debt Facility for Expanding Cancer Treatment
Mergers & Acquisitions
- Amazon and One Medical Sign an Agreement for Amazon to Acquire One Medical
- AstraZeneca to acquire TeneoTwo and its clinical-stage T-cell engager, strengthening haematological cancer pipeline
Precision Medicine
- EMA joins regulatory coalition in calling for RWE to be integrated into regulatory decisions
- Medidata Supports White House Cancer Moonshot Effort with its Patient Cloud Technologies
- Regeneron Genetics Center Discovers Rare Mutations In The CIDEB Gene That Protect Against Liver Disease
- Study supports potential of genome-to-treatment to guide physicians in the management of 500 genetic diseases
- Worldwide Clinical Trials Enters Into a Strategic Collaboration With Invitae to Accelerate Clinical Trials for Rare Disease Patients
- Using the Genomics England data set to propose updated global guidelines to improve rare disease diagnosis
- Bionano Genomics Announces Publication of a New Study Using OGM to Investigate Chromosome Instability during Culture of Induced Pluripotent Stem Cells
- Genetic Regulation of the Human Plasma Proteome in the UK Biobank – SCALLOP proteogenomic study identifies >450 pQTLs and several novel potential drug targets. Study conducted by 13 pharmaceutical companies in conjunction with researchers from the UK Biobank (UKB) present the largest open-access resource of proteomic data analyzing 1,463 proteins across 54,306 UK Biobank participants Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals
Genomic / Genetic Testing / Liquid Biopsy
- ESMO Releases Guidelines for Liquid Biopsy Testing in Cancer Patients
- BillionToOne launches oncology liquid biopsy products for research use & announces clinical research collaboration with UCSD
(Genomics) Data Platforms / Analysis / Instruments
- Ultima Genomics signs development agreement with Regeneron aimed at driving the scale of genomic information for drug discovery and development
- BGI Group units, Illumina settle U.S. lawsuits over DNA sequencing
- Illumina Releases Secondary Analysis Platform DRAGEN™ v4 The new features expand laboratories’ abilities to perform analyses in key areas such as oncology, pharmacogenomics (PGx), single-cell sequencing, and population genomics within a single platform.
- QIAGEN’s Clinical Decision Support Platform QCI Surpasses Three Million NGS Patient Test Cases
Saptial Omics Platforms
Microbiome
CRISPR/Cas9 Technology
Miscellaneous
- U.S. FDA accepts Biogen’s ALS therapy for review
- Invitae to Lay Off More Than 1K in Massive Restructuring Plan
COVID-19 / SARS-CoV-2
- Pfizer and BioNTech Advance COVID-19 Vaccine Strategy With Study Start of Next-Generation Vaccine Candidate Based on Enhanced Spike Protein Design
- At least 27 million COVID patients may have long-term smell and taste problems
- Researchers pinpoint genetic variations that might sway course of COVID-19
- U.S. Government Secures 3.2 Million Doses of Novavax COVID-19 Vaccine
- Color Health Partners with CDC to Increase Equitable Access to COVID-19 Testing
Publications
- A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases Novel newborn screening system uses rapid whole genome sequencing to screen and diagnose genetic diseases
- Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis
- Scientists identify a key gene that is turned on in most cancer types
- The Most Significant Genetic Risk Factor for Alzheimer’s Disease Has Been Untangled
- Germline Mutations in CIDEB and Protection against Liver Disease
- Ancient herpes simplex 1 genomes reveal recent viral structure in Eurasia
- An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases Describe Genome-to-Treatment (GTRx), an automated, virtual system for genetic disease diagnosis and acute management guidance.
- Alcohol consumption and telomere length: Mendelian randomization clarifies alcohol’s effects Researchers investigated the association between alcohol intake and telomere length in over 245,000 participants in the UK Biobank.
- The sequences of 150,119 genomes in the UK Biobank
- Systematic discovery and perturbation of regulatory genes in human T cells reveals the architecture of immune networks
- Proteogenomic, Epigenetic, and Clinical Implications of Recurrent Aberrant Splice Variants in Clear Cell Renal Cell Carcinoma
News for the month of June 2022
The month of June was dominated by a slew of exciting new technology announcements coinciding with the Annual AGBT conference held earlier in the month in Orlando, FL. Much of the news centered around the latest technical advancements in spatial genomics with several new platforms being launched, single-cell analysis reported to now being FFPE enabled, and new sequencing systems with Ultima Genomics coming out of stealth mode with $600M in funding with a new high-throughput, low-cost sequencing platform that promises to deliver a $100 genome.
Top Technology announcements included:
- Resolve Biosciences launched an Automated Molecular Cartography™ Workflow
- NanoString unveiled its new AtoMx™ Spatial Informatics Portal (SIP)
- Akoya Biosciences presented for the first time data generated using its proprietary RNA chemistry, which enables whole-slide spatial multiomics at single-cell resolution on the PhenoCycler-Fusion system.
- Element Biosciences announced first customer shipments and new offerings for the AVITI™ System
- MGI announced the commercial availability of DNBSEQ™ Sequencers* in the United States
- Dovetail Genomics and Arc Bio merged to form Cantata Bio
Funding / IPO
- Seres Therapeutics Announces $100 Million Registered Direct Offering of Common Stock
- Faeth Therapeutics raises $47 million to advance clinical trials and feed the fight against cancer
- Illumina Invests in £30M Venture Fund to Advance Breakthroughs in Human Health Illumina announced its participation in Time Boost Capital I LP, a £30 million genomics venture fund dedicated to providing match funding to startups graduating from Illumina Accelerator Cambridge
- DEM BioPharma Launches with $70 Million Financing DEM BioPharma is an immuno-oncology company developing therapies that target novel innate immune system checkpoints to eliminate cancer.
- Vamstar Closes $9.5M Series A to Expand AI-Based Global Healthcare Supply Chain Platform
- Florence Healthcare Announces $27 Million Series C-1 This investment will support the company’s mission of doubling the output of clinical trials this decade by enabling remote access. The funds will go toward expanding Florence Healthcare’s staffing, enhancing its product offerings, and accelerating the connectivity across its growing global network of 10,000+ clinical trial sites and sponsors.
- L7 Informatics Raises $38 Million Growth Investment to Digitalize Precision Healthcare
- Elucid Raises $27 Million Series B Funding Round to Commercialize a New Paradigm in Heart Disease Diagnosis
- Gemelli Biotech Completes $19 Million Series A Financing
- Idoven Raises $19.8 Million in Funding to Redefine Detection and Precision Medicine of Cardiovascular Diseases with AI
- ImmunOs Therapeutics Raises $74 Million Series B Financing Round
- Watchmaker Genomics Raises $40M Series A Financing to Accelerate Growth and Expand Clinical Sequencing Product Offerings
- Ultima Genomics Emerges from Stealth with $600 Million in Funding
- Epic Sciences raises $43m in first close of series f financing to advance comprehensive profiling for metastatic cancer patients
Mergers & Acquisitions
- Bio-Techne To Acquire Namocell
- Human Longevity, Inc., and Freedom Acquisition 1 announce their intention to combine
- Guardant Health announced it has purchased the remaining shares of Guardant Health AMEA Joint Ventures, held by SoftBank and its affiliates, giving the company full control over operations throughout the Asia, Middle East and Africa region
Precision Medicine
- University Of Maryland Medicine Launches Precision Health Study To Create Biggest And Most Diverse Research Database In State
- Memorial Hermann and Helix Partner on a Population Genomics Initiative Aimed at Driving Precision Health Care for Texans
- Illumina Launches Research Test Codeveloped with Merck to Unlock Deeper Insights into the Tumor Genome The test adds assessment of a new genomic signature to the TruSight™ Oncology 500 assay. It will be available globally, excluding the United States and Japan and will enable researchers to unlock deeper insights about the tumor genome by identifying genetic mutations used in the evaluation of homologous recombination deficiency (HRD).
- Rady Children’s Institute for Genomic Medicine Partners With Inozyme Pharma on NGS Newborn Screening
- UK GENOMICS SPOTLIGHT Report: LEADING INNOVATIONS 2022 Published by the UK Department for International Trade (DIT) in partnership with the ABHI, BIA, Genomics England, and the NHS
- Rady Children’s Institute for Genomic Medicine Launches Program to Advance Newborn Screening for Treatable Genetic Diseases The program is called BeginNGS™ and is meant to evaluate the scalability of this diagnostic and precision medicine guidance tool
- Pierian and Syapse Collaborate with Health Systems, Leveraging Data to Power Precision Oncology The collaboration combines Pierian’s clinical genomics workflow, and precision medicine services with Syapse’s real-world evidence solutions designed to improve outcomes for patients with cancer.
- FinnGen selects Olink to accelerate leading Population Health Study FinnGen in Finland will use Olink technology to provide detailed proteomics data to improve understanding of human health
- Inozyme Pharma Announces Partnership with Rady Children’s Institute for Genomic Medicine to Advance Newborn Screening for Genetic Diseases
Genomic / Genetic Testing / Liquid Biopsy
- PreventionGenetics Receives FDA Approval for its Companion Diagnostic Genetic Test as a Class II Medical Device
- BioFluidica Next-Generation Liquid Biopsy Platform Uncovers Undiagnosed HER2+ Patients
- GRAIL and Fountain Health Insurance Partner to Provide Coverage of Galleri® Multi-cancer Early Detection Test
- GRAIL and England’s National Health Service (NHS) Present Trial Design for Largest Study of Multi-Cancer Early Detection Test at ASCO Annual Meeting
- GRAIL Announces Strategic Collaboration With AstraZeneca to Develop Companion Diagnostic Tests to Enable the Treatment of Early-Stage Cancer
(Genomics) Data Platforms / Analysis / Instruments
- Regeneron Brings Large-Scale Genomics to Drug Discovery Using AWS Regeneron Case Study
- Ultima Genomics and Exact Sciences enter long-term supply agreement aimed at improving patient access to genomic testing by driving down sequencing costs
- New Agilent/Genomenon Partnership Aims to Improve Genomic Variant Interpretation
- Singular Genomics and TwinStrand Biosciences Collaborate to Develop Ultra-high Accuracy NGS Solutions for the G4 Platform
- Ultima Genomics Collaborates with NVIDIA To Deliver $100 Genome Sequencing with AI and Accelerated Computing
- Gencove and Element Biosciences, Inc. Partner to Offer Low-Pass Whole Genome Sequencing and Analysis with the AVITI™ System
- Ultima Genomics partners with Sentieon and Google DeepVariant to deliver high-performance variant calling
RWE / RWD
- Truveta Announces Strategic Collaboration with Pfizer to Accelerate Safety Insights in Real Time RWD on a grand scale empowers Pfizer to identify, monitor, and evaluate potential signals immediately using complete Electronic Medical Record data, updated daily for more than 50 million people
CRISPR/Cas9 Technology
- Benefits of CRISPR-edited gene therapy for patients with blood disorders The one-time treatment, developed by Vertex Pharmaceuticals and CRISPR Therapeutics, showed continued benefits at up to three years after administration, with a safety profile as expected for autologous transplant and potentially much safer than allogeneic transplant (from a donor).
AI / ML
AGBT 2022
Spatial genomics / Single-cell genomics
- Resolve Biosciences Launches Automated Molecular Cartography™ Workflow
- 10x Genomics presents new product capabilities (single-cell RNA sequencing on FFPE tissues), opens preorders for CytAssist, the company’s first spatial instrument, and shares new data on the company’s Xenium In Situ Analyzer, expected to ship by year-end
- Vizgen Showcases Expansion of MERSCOPE™ In Situ Single-Cell Spatial Genomics Platform Capabilities at AGBT
- NanoString announced the commercial unveiling of its new AtoMx™ Spatial Informatics Portal (SIP) at the Spatial Multiomic Symposium at the 2022 AGBT
- Akoya Biosciences will present for the first time, data generated using its proprietary RNA chemistry, which enables whole-slide spatial multiomics at single-cell resolution on the PhenoCycler-Fusion system.
- NanoString to Unveil New Platforms and Showcase Spatial Biology Research at AGBT 2022
- Researchers can leverage NanoString products, such as their GeoMx® Digital Spatial Profiler (DSP) with Illumina sequencers to measure expression of RNA and protein while retaining spatial context – to be presented at AGBT 2022
- BioSkryb Genomics Launches ResolveOME Early Access Program for Full Genome and Transcriptome Amplification From a Single Cell, in Conjunction With Its Innovative Bioinformatics Platform, BaseJumper™
Sequencing systems
- Element Biosciences Announces First Customer Shipments and New Offerings for AVITI™ System
- Element and Olink Collaborate to Enable Olink® Explore on the Element NGS platform AVITI™ Results will be discussed at AGBT
- Gencove and Element Biosciences, Inc. Partner to Offer Low-Pass Whole Genome Sequencing and Analysis with the AVITI™ System
- Singular Genomics and Olink Collaborate to Enable Olink® Explore on the G4 Max Read™ Sequencing Kits
- MGI Announces Commercial Availability of DNBSEQ™ Sequencers* in the United States
- DNA Script Enables Same-day q/dPCR from Design to Results with Launch of Next-generation SYNTAX Kits at AGBT
- Ultima Genomics Emerges from Stealth with $600 Million in Funding
- Ultima Genomics and Olink collaborate to develop solution for high-throughput proteomics
- Ultima Genomics will present first scientific results from leading research institutes using their new platform for whole-genome sequencing, single-cell sequencing, and cancer epigenetics at AGBT 2022 Includes data from both the Sentenion and DeepVariant models
- Watchmaker Genomics Raises $40M Series A Financing to Accelerate Growth and Expand Clinical Sequencing Product Offerings
Sequencing automation / reagents
- PerkinElmer Launches BioQule NGS System to Automate Library Preparation
- Dovetail Genomics and Arc Bio merge to form Cantata Bio – a New Life Sciences Tools Company Delivering Novel Next Generation Sequencing (NGS)-Based Products and Services and launches new Dovetail® TopoLink™ Assay
- TwinStrand Biosciences to Showcase Recent Applications of its Duplex Sequencing Technology at AGBT
- DNA Script Enables Same-day q/dPCR from Design to Results with Launch of Next-generation SYNTAX Kits at AGBT
- S2 Genomics announced at AGBT the launch of the NIC+ Small Sample Cartridge for nuclei isolations from solid tissue The Singulator 100 TM System, the NIC+ cartridges automates the processing of solid tissue samples into suspensions of single nuclei with high yields and from sub-20 mg samples for a wide range of single-cell biology and genomic analyses.
- Volta Labs to unveil digital fluidics bioautomation technology to streamline the upstream workflows in genomic sequencing at AGBT
- Bio-Rad Launches SEQuoia Express Stranded RNA Library Prep Kit
- Integrated DNA Technologies, Beckman Coulter Life Sciences Ink Distribution Deal
CRISPR technology
- Cardea Bio introduces the first-generation multiomics BPUs that combine CRISPR technology with the ultra-sensitivity of a graphene-based BPU™ (Biosignal Processing Unit) to detect target DNA sequences within the whole genome without the need for DNA amplification.
Metagenomics
- Dovetail Genomics and Arc Bio merge to form Cantata Bio – a New Life Sciences Tools Company Delivering Novel Next Generation Sequencing (NGS)-Based Products and Services and launches new Dovetail® TopoLink™ Assay
Miscellaneous
- Medidata Launches New Clinical Operations Technologies to Address Critical Issues in Clinical Trial Oversight
- BioNTech Receives Priority Medicines (PRIME) Designation from EMA for Enhanced Regulatory Support of CAR-T Candidate BNT211 in Testicular Cancer
- Congenica Appoints Robert Denison as CEO
- Moderna to build UK centre for mRNA vaccines
- Helio Health Adopts New Corporate Name as Helio Genomics
- Molecular Signatures Are Redefining Cancer Treatment A recap of major studies coming out of ASCO 2022 by Meredith Salisbury
- Walgreens Launches Clinical Trial Business to Address Industrywide Access and Diversity Challenges and Redefine Patient Experience
- Artemis DNA to Wind-Down Texas Operations and Shift Focus to Expand Oncology Portfolio in California
COVID-19/SARS-CoV-2
- US buys 105 million COVID vaccine doses for fall campaign
- CDC and FDA clear the way for COVID vaccines for kids under 5
- Moderna has an omicron-specific booster shot. Does it change anything?
- Moderna says updated COVID shot boosts omicron protection
Publications
- An exercise-inducible metabolite that suppresses feeding and obesity
- Novel gene for Alzheimer’s disease in women identified
- Most Pathways Can Be Related to the Pathogenesis of Alzheimer’s Disease
- Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer Molecular profiling of solid tumors found clinically significant genetic variations in 298, or 6% of 345 pediatric patients. In 240 patients, the genetic “fingerprint” or pattern of cancer-related changes in the tumor’s DNA could be used to choose a targeted, precision therapy matched to those alterations. Of these patients, 200 were eligible for matched drug therapy.
- Single-nucleus profiling of human dilated and hypertrophic cardiomyopathy Scientists have generated detailed maps of a variety of cell types in the heart that are involved in two major causes of heart failure: dilated and hypertrophic cardiomyopathy (DCM and HCM), which both impair the heart’s pumping ability – suggests possible therapeutic targets.
- Researchers model a complex childhood disease on-a-chip
- cBAF complex components and MYC cooperate early in CD8+ T cell fate Study unlocks the promise of CAR T–cell therapy for treatment of solid tumors
- Molecular signatures of long-term hepatocellular carcinoma risk in nonalcoholic fatty liver disease
- Genetically Modified Porcine-to-Human Cardiac Xenotransplantation The findings of first successful transplant of genetically modified pig heart into human patient
- Genome-wide mapping of somatic mutation rates uncovers drivers of cancer
- EagleC: A deep-learning framework for detecting a full range of structural variations from bulk and single-cell contact maps
- Co-development of gut microbiome, respiratory and immune systems directly impact baby’s development
- Genomic analysis defines clonal relationships of ductal carcinoma in situ (DCIS) and recurrent invasive breast cancer DCIS, which indicates the presence of abnormal cells inside the breast milk duct, is the most common form of pre-invasive breast cancer. The condition is harmless in most; less than 10% of women with DCIS will later develop an invasive cancer.
- CAR T cell killing requires the IFNγR pathway in solid but not liquid tumours
- RNF31 inhibition sensitizes tumors to bystander killing by innate and adaptive immune cells
- Genetic variants in epilepsy gene identified
News for the month of May 2022
During the month of May several worthwhile initiatives have either been completed or just started. This includes 54gene completing its first consortium-led publication in Nature Genetics related to a study on over 100,000 Nigerians: “Promoting the Genomic Revolution in Africa through the Nigerian 100k Genome Project”. Similarly, over the course of the next three years, the whole genomes of 100,000 healthy Singaporeans will be sequenced and analyzed to create one of Singapore’s largest research data sets. Both these initiatives will increase the diversity in genomic studies, and will therefore be important resources that are expected to play a key role for African and Asian populations to allow them to benefit from the global efforts at advancing precision medicine for various diseases.
Other business news included InformedDNA announcing evidence-based genomics decision support service, InformedGENOMICS for health plans which will equip medical directors and clinical reviewers with ready-to-use criteria and clinical utility reviews, Thermo Fisher Scientific and Qatar Genome Program partnering to advance precision medicine, BC Platforms, Euformatics and Oncompass Medicine forming a partnership to develop oncology NGS workflows for buyer consortium of seven major European hospitals, Tempus launching psychiatric Real-World Data Program, NanoString launching an integrated informatics workflow which couples the GeoMx instrument to automated downstream data processing using the Illumina DRAGEN™ Bio-IT platform, and Illumina stepping deeper into drug discovery with Deerfield, Janssen partnerships.
Funding / IPO
- Vyriad, Inc. Raises $29.5M in Series B Funding Led by Renowned Genetics Entrepreneur
- Code Ocean Announces $16.5 Million in Series-B Funding to Expand Its Digital Lab Platform for Computational Scientists
- Turquoise Health raises $20M in Series A to boost price transparency
- Domain Therapeutics Raises $42m Series A Financing
- Curebase thinks the future of clinical testing is decentralized and raises $40M to prove it
- OncoHost Raises $35 Million Series C Funding Round to Launch Blood Test That May Rewrite the Standard of Care for Precision Oncology
- Osmind Raises $40M Series B Round Led by DFJ Growth to Expand Platform for Breakthrough Mental Health Research and Treatment
- Forsanis’ Series A financing round of more than 10M EUR lays foundation for international growth of digital cancer therapeutics Mika
- Aspen Neuroscience Announces $147.5 Million Series B Financing
- Anja Health Raises $4.5M Seed Funding Round to Make Cord Blood Stem Cell Banking Accessible and Affordable For All
- Palantir Selected for $90 million, 5-year HHS Contract Vehicle
Precision Medicine
- Project SG100K: DNA of 100,000 Singaporeans to be mapped to identify new ways to prevent diseases The Republic is embarking on a mission to map the DNA and the complete set of genes of 100,000 Singaporeans – to unravel clues that will further the population’s health and well-being.
- DxTerity Diagnostics Begins Enrollment in the ELEVATE Clinical Study for Lupus
- New Quest Alzheimer’s blood test can help clinical trial sponsors identify patients easily
- Thermo Fisher Scientific and Qatar Genome Program Partner to Advance Precision Medicine Thermo Fisher and Qatar Genome Program will develop an Axiom* custom genotyping array for pan-Arab populations using whole genome sequencing data from 19 Arab countries. The array, with about 800,000 variants, aims to help drive scientific research and insights into conditions including diabetes, cardiovascular and metabolic diseases, autism, inherited genetic disorders and cancer.
- BostonGene Announces Integration With NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®)
- 54gene Completes Initial Phase of the Landmark Nigerian 100K Genome Project
- InformedDNA Announces Evidence-Based Genomics Decision Support Service for Health Plans
RWE / RWD
- Tempus Launches Psychiatric Real-World Data Program to Advance Personalized Medicine
- BC Platforms Announces Partnerships with Three Finnish Biobanks to Advance Novel Diagnostics and Treatments
- Formation of GenomeX, an initiative within the HL7® Organization’s CodeX FHIR® Accelerator The goal is to achieve a high level of interoperability in genomic data and use it to improve patient outcomes by standardizing the data collected and shared across many systems – laboratories, clinicians, researchers, and other stakeholders to enable a learning health system
- Pfizer Presents Real-World Evidence of Ibrance for HR+, HER- Breast Cancer
(Genomic) Data Platforms / Analysis
Miscellaneous
- Traversing industry and academia in biomedicine: the best of both worlds?
- A new approach to vaccinations: 3D printed patches
- Illumina steps deeper into drug discovery with Deerfield, Janssen partnerships
Digital Health
- Digital health is not a bubble
- Startup innovation for underserved groups: 2021 digital health consumer adoption insights A Rock Health report summarizing consumer adoption survey trends among four populations ((1) rural communities, (2) those with Medicaid insurance coverage, (3) women of color1, and (4) LGBQA+ and transgender-identifying individuals) in context of the specific access and outcomes barriers faced by these groups – highlighting the startup innovation centered around improving trust, quality, and accessibility of healthcare among these populations.
- Data from wearable devices are changing disease surveillance and medical research
Spatial Genomics
SARS-CoV-2 / COVID-19
- Resetting the Course for Foundational Public Health Services (FPHS) During COVID-19
- Genomic differences selected through evolution may offer clues as to why COVID-19 outcomes vary widely
- After a sweeping review, CDC looks to rebuild public trust
- A National Strategy for COVID Response and Pandemic Preparedness Must Address Noncommunicable Chronic Diseases Health experts caution against ‘new normal’ strategies for COVID-19
Publications
- Circadian alignment of early onset caloric restriction promotes longevity in male C57BL/6J mice
- PHGDH heterogeneity potentiates cancer cell dissemination and metastasis
- Early prediction of diabetes mellitus using various artificial intelligence techniques: a technological review
- Methods to Establish Race or Ethnicity of Twitter Users: Scoping Review First comprehensive study that reviews the methods used to extract race or ethnicity from social media data. Authors identified ethical concerns and doubts over the reliability of using Twitter to evaluate ethnicity or race from a user.
- Understanding transposons provides a new starting point to generate more powerful gene editing tools
- Researchers highlight more equitable way to analyze DNA data from understudied groups
- Mutational signatures are markers of drug sensitivity of cancer cells
- Mapping cell types across human tissues The Tabula Sapiens Consortium report pan-tissue single-cell transcriptome atlases covering more than a million cells, including 500 cell types, across more than 30 human tissues from 68 donors. These four studies apply rigorous ontologies to consistently annotate and compare single cells between organs.
- Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis
- Improving polygenic prediction in ancestrally diverse populations
- Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
- Intermittent PI3Kδ inhibition sustains anti-tumour immunity and curbs irAE Lessons from an Amgen candidate PI3K cancer drugs’ immune toxicity study – a failed clinical trial leads to a scientific breakthrough.
- Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project
- Polygenic risk scores for CARDINAL study The Cardiometabolic Disorders in African-Ancestry Populations (CARDINAL) study site is a well-powered, first-of-its-kind resource for developing, refining and validating methods for research into polygenic risk scores that accounts for local ancestry, to improve risk prediction in diverse populations.
News for the month of April 2022
In April major attention was given to the completion of the human genome sequence, published March 31. Nearly 20 years after the Human Genome Project sequenced 92% of the human genome, scientist just only now published the first truly 100% complete genome. The effort involved an unprecedented, grassroots collaboration of scientists around the world who applied novel long-read sequencing technologies (Oxford Nanopore and PacBio technologies) to sort through massive, previously unmapped strands of DNA located primarily in the dense centers of human chromosomes. The T2T-CHM13 version includes the sequence of almost 200 million base pairs that were missing in the previously used reference genome, GRCh38, published by the Genome Reference ConsortiumTrusted Source. Besides filling the gaps in the genome, the T2T-CHM13 genome has also corrected errors present in GRCh38.
On the business side highlights for the month of April included Pharmaceutical Companies launching the Precision Cancer Consortium to drive global access to comprehensive genomic testing for all patients with cancer, SOPHiA GENETICS hitting a major milestone of One Million Genomic Profiles analyzed by the SOPHiA DDM™ Platform, real-world data and AI startup ConcertAI scoring $150M, valuation skyrocketing to nearly $2B, and AI startup Unlearn adding $50M for better, faster, smaller & cheaper clinical trials, just to name a few.
Funding / IPO
- Genome Insight Draws $23 Million in Series B Funding to Open the Whole Genome Era for Transforming Precision Medicine
- Codetta Biosciences Announces $15 Million in Series A Financing
- Sampling Human Raises $2 Million to Support the Development of Engineered Cells for Single Cell Analysis
- Codexis and seqWell Announce Strategic Investment and Partnership Initiation
- TRIANA Biomedicines Launches With $110M to Unlock the Full Potential of Molecular Glues
- Pheast Raises $76M in Series A Funding to Train the Immune System to Feast on Cancer
- Real-world data and AI startup ConcertAI scores $150M, valuation skyrockets to nearly $2B
- AI-backed clinical data startup Mendel raises $40M to make sense of unstructured clinical information like EHR data
- BostonGene Announces $150 Million Series B Funding at a Multi-Billion Dollar Valuation, Propelling the Company to Unicorn Status
- AI in Genomics Start-Up MNM Bioscience Gets nearly $1M Eureka Eurostars Funding for AI-Based Cancer Patient Stratification Tool
- AI startup Unlearn adds $50M for better, faster, smaller & cheaper clinical trials
- Reify Health Secures $220M to Support Clinical Trial Diversity at $4.8B Valuation
- Stroke care coordination company Viz.ai lands $100M
- Clarify Health Snags $150M for End-to-End Patient Intelligence
- Medical-interpretation company Jeenie scores $9.3M in Series A funding
- Valar Labs Raises $4M in Seed Funding
- seqWell and Element Biosciences Partner to Demonstrate Sequencing Performance of Multiplexed plexWell Technology With the AVITI System
Mergers & Acquisitions
Precision Medicine
- New Research from the Caris Precision Oncology Alliance Finds Prognostic and Predictive Drug-Induced Gene Signatures for Colorectal Cancer Patients
- Pharmaceutical Companies Launch the Precision Cancer Consortium to Drive Global Access to Comprehensive Genomic Testing for all Patients with Cancer
- New precision medicine tool discovers hidden genetic connections that could improve personalized medicine
- The Danish National Genome Center Partners with Lifebit to Deliver Nationwide Personalised Medicine The Danish National Genome Center has awarded Lifebit a four-year contract to implement Lifebit’s Federated Trusted Research Environment software, Lifebit CloudOS, within Denmark’s national supercomputing center.
- Illumina Expands Access to Genomics in Latin America through New State-of-the-Art Solution Center
- Illumina Supports Leading German Hospital to Accelerate Genetic Disease Diagnosis in Critically Ill Children
- CancerLinQ and Count Me In Collaborate to Empower Patient Participation in Clinical Cancer Research
- BC Platforms Partners with SAS to Deliver Faster Insights from Patient Data for Global Health Care and Life Sciences
(Genomic) Data Platforms / Analysis
- Sentieon Updates: Now Supporting Long-Read Alignment and Calling
- Accelerate your data science-driven drug discovery: Announcing QIAGEN Biomedical Knowledge Base
Genetic Testing / Genomic Profiling
- Allelica Joins Forces with Leader in Genotyping Technology to Enable Polygenic Risk Score Illumina is licensing Allelica’s software to provide its customers with polygenic risk score (PRS) capabilities.
- SOPHiA GENETICS Hits Milestone of One Million Genomic Profiles Analyzed by the SOPHiA DDM™ Platform
Liquid Biopsy-based Testing
- Guardant Health Presents New Data Showing Blood Test Highly Accurate in Detecting Multiple Cancers at the American Association for Cancer Research Annual Meeting
- Exai Bio Demonstrates Its Unique RNA-based Liquid Biopsy Strategy for Early Detection and Monitoring of Multiple Cancers
- With milestones on the horizon, Guardant Health CEOs lay out their vision for cancer detection
RWE / RWD
Spatial Genomics
SARS-CoV-2 / COVID-19
- Tackling the consequences of long COVID
- Genetic links revealed between severe COVID-19 and other diseases
- Million Veteran Program’s response to COVID-19: Survey development and preliminary findings
- A BA.2 Surge Could Wreak Unequal Havoc
- Moderna says trial results suggest redesigned vaccines can better protect against variants
Digital Health
- Q1 2022 digital health funding: Staying the course in choppy waters Q1 2022 U.S. digital health funding closed with $6.0B across 183 deals, with an average deal size of $32.8M. This quarter fell significantly behind Q4 2021’s $7.3B and the trailing twelve month quarterly average of $7.1B.
- Digital Medicine Society Launches Toolkit to Support Reimbursement for New Drugs Developed Using Digital Endpoints
EMR / EHR
Microbiome
Miscellaneous
- BC Platforms Partners with SAS to Deliver Faster Insights from Patient Data for Global Health Care and Life Sciences
- New imaging method helps to provide new, more personalized cancer treatments
- Singlera Genomics announces research collaboration with Astellas Pharma pursuing methylation-based tools to better understand biological reactions to pharmaceuticals
- Stilla and Promega Announce Co-Marketing Agreement to Offer Complete Digital PCR Workflow Solution
- NeoGenomics Inc. Announces Partnership with Lilly for Lung Cancer Sponsored Testing Program Utilizing the NeoTYPE(R) DNA and RNA Assay
- FDA urges creation of racial, ethnic recruitment plans for clinical trials
- Walgreens turns to robots to fill prescriptions, as pharmacists take on more responsibilities
Publications
- Human genome sequenced in its entirety for the first time
- Researchers discover over 40 new genetic markers for Alzheimer’s disease
- Polygenic risk scores identify high-risk individuals in European and Asian ancestry, but less so in African ancestry
- Researchers develop new model to detect and combat lung cancer recurrence
- Study tracks COVID-19 infection dynamics in adults
- Best practices for the interpretation and reporting of clinical whole genome sequencing
News for the month of March 2022
Highlights for the month of March included the All of Us Research Program, after it started nearly four years, releasing nearly 100,000 whole genome sequences which sets the stage for new discoveries, the NIH searching for a new leader after Collins’ retirement, new blood biomarker suggested to predict dementia risk in Mexican Americans, and study demonstrating early-stage multi-cancer detection using an extracellular vesicle protein-based blood test and AI-enabled marker analysis.
The business news were plentiful and included Thermo Fisher Scientific launching CE-IVD Marked NGS instrument for use in clinical labs, PacBio opening European Headquarters in London, BC Platforms opening Singapore R&D Center and signing new data partnership in Asia Pacific region, Genomenon raising $20M in Series B, the Broad Institute selecting Fabric Genomics for implementation of clinical whole genome sequencing offering, DNAnexus securing $200M in Series H (bringing its total funding to almost $0.5B), Illumina wining extended U.S. ban on BGI gene-sequencer sales in addition to releasing DRAGEN v3.10, and lastly Hindenburg Research publishing a report on Natera’s medical billing practices suggesting Natera’s revenue growth has been fueled by deceptive sales and billing practices aimed at doctors and insurance companies.
SARS-CoV-2 / COVID-19
- FDA Greenlights Second COVID Booster for Select Groups
- Roll-out of Omicron-specific vaccine delayed to autumn: German minister
- Pfizer and BioNTech Receive Expanded U.S. Emergency Use Authorization for an Additional COVID-19 Vaccine Booster in Individuals Aged 50 Years and Older
- Lung damage may persist long after COVID-19 pneumonia
- How Is the U.S. Watching for the Next COVID Variant?
- The scientific race to understand the omicron variant
- Here we go again: The BA.2 version of omicron
- NIH launches trial to study allergic reactions to COVID-19 mRNA vaccine
- Scientists predict structure of SARS-CoV-2 frameshifting pseudoknot
- Precision Medicine Reveals Who Is Most At-Risk From COVID-19
Funding / IPO
- Illumina Accelerator Invests in Seven Omics Startups Advancing Breakthrough Therapeutics, Diagnostics, DNA Storage, Mental Wellness, and Sustainable Foods Applications
- BillionToOne Closes $125M Series C Funding with Premier Global Investors
- Nalagenetics Raises US$12.6M in Series A Funding
- PreludeDxTM Closes $20 Million in Funding to Advance Growth Initiatives and Development of Its Precision Medicine Portfolio
- Geneos Therapeutics Secures $17 Million in Series A2 Financing to Advance Personalized Cancer Immunotherapy Platform
- Genomenon Raises $20M Series B Financing, Launching a New Era in AI-Powered Genomic Data
- Colossal Secures $60M Series A Funding To Advance Genetic Engineering and De-extinction Technologies
- DNAnexus Secures $200 Million Funding Led by Blackstone Growth to Advance its Biomedical Data-Driven Technology Platform for Precision Medicine
- MDisrupt Lands $6 Million in Seed Funding to Build Its Digital Health Intelligence Platform
- NextRNA Launches with $56 Million in Funding to Bring Transformative Non-Coding RNA-Directed Medicines to Patients
Mergers & Acquisitions
- ImmunoPrecise Antibodies (IPA) Announces Agreement to Acquire BioStrand BV – Revolutionizing Biotherapeutics with Methodology to Encode Omics and Power Drug Development with Advanced Artificial Intelligence
- Singleron Acquires Proteona
Precision Medicine
- Clinicians outline UK plan for integrating pharmacogenomics into prescribing
- All of Us: Release of Nearly 100,000 Whole Genome Sequences Sets Stage for New Discoveries
- HealthPartners, Helix partner to create DNA testing program that helps families better understand their genetic health
- Fortis Life Sciences Partners With AccuGenomics to Expand Genomics Portfolio
- The Evolving Role of the Medical Geneticist
- Strata Oncology Sentinel Trial for Personalized Cancer Recurrence Monitoring Enrolls First Patient
- Dante Labs establishes the first of its Regional Medical Genomics Boards in Europe made of national and multinational world leaders in genomics
- Oncocyte Announces Development and Co-Marketing Agreement with Thermo Fisher Scientific to Expand Access to Precision Oncology
- insitro and Genomics England Announce Partnership to Provide Multimodal Search Capabilities and Empower Data Exploration and Derivation of Novel Insights
- Stanford Health Care appoints inaugural chief data scientist As the inaugural chief data scientist for Stanford Health Care, Nigam Shah will lead an effort to advance the use of artificial intelligence in patient care and hospital administration
Genomic / Genetic Testing
- Invitae Launches Genomics-Forward Digital Health Platform
- Hindenburg Research publishes report on Natera’s medical billing practices stating that Natera’s revenue growth has been fueled by deceptive sales and billing practices aimed at doctors, insurance companies and expectant mothers.
Genomic Data Platforms / Analysis
- Strategic Dx Partnering Allows for Innovation and Value at Scale
- The Broad Institute Selects Fabric Genomics in Implementation of Clinical Whole Genome Sequencing Offering
- Thermo Fisher Scientific Launches CE-IVD Marked Next-Generation Sequencing Instrument for Use in Clinical Labs
- Illumina wins extended U.S. ban on BGI gene-sequencer sales
- A 2022 NGS Cost and Throughput Comparison Post Singular Genomics announcing the new G4 system at the end of 2021, and Element Biosciences announcing the AVITI system in March 2022, Dale Yuzuki takes a look at the existing state-of-the-art systems in a single graphic
- Bionano Genomics Announces Publication of Comprehensive Validation of Optical Genome Mapping for Hematologic Neoplasms
- Illumina released DRAGEN v3.10 With DRAGEN v3.10, Illumina released a machine learning beta feature and improvements to graph genome mapping
- BC Platforms Opens Singapore R&D Center and Signs New Data Partnership to Drive Precision Medicine in Asia Pacific Region
- Element Partners with Interpretation Expert Genoox to Validate the AVITI™ System for the RUGD Application
Sequencing Technology
- PacBio Opens European Headquarters in London
- PacBio (PACB) Supports SickKids With Sequencing Technology
Single-Cell / Spatial Genomics
- Mission Bio Launches First-in-Class Single-Cell Genomics Solid Tumor Solution on Tapestri Platform
- 10x Genomics Sues NanoString for Infringement of Church Lab Spatial Analysis Patents
Artificial Intelligence / Machine Learning
Metagenomics
Miscellaneous
- Califf admits controversy over FDA’s Alzheimer’s drug decision impacted experts’ trust in the agency
- Beckman Coulter Life Sciences and AmoyDx Sign Application Development Agreement for the Biomek NGeniuS System
- Promega to Launch Post-Doctoral Research Program to Develop New Tools for Genome Editing
- Illumina launches lawsuit against Guardant Health claiming misappropriation of trade secrets Guardant counters that the lawsuit was filed as retaliation for raising concerns with antitrust regulators over Illumina’s Grail acquisition
- NIH’s identity crisis: The pandemic and the search for a new leader leave the agency at a crossroads
- Genomic sequencing aids the global tuberculosis fight
- New data-sharing requirements from the National Institutes of Health are a big step toward more open science
- Adaptive Biotechnologies lays off about 100 people, 12% of headcount, to ‘streamline our workforce’
- The 10 most innovative companies in data science for 2022 Includes IPM.ai, Sema4, Databricks,
- The 10 most innovative biotech companies in 2022 Includes Strata Oncology, DNA Script, Benchling, Myriad Genetics, Biome Makers, Safetraces, and Bridgebio Pharma
Publications
- Bionano Genomics Announces Peer-Reviewed Publication of NeuroSCORE Model to Predict and Prioritize Human Genes Contributing to Neurodevelopmental Disease
- Complete genomic and epigenetic maps of human centromeres
- Early-stage multi-cancer detection using an extracellular vesicle protein-based blood test
- Pan-cancer analysis identifies BIRC5 as a prognostic biomarker
- Two new studies highlight a common mechanism for declining muscle function
- Draft Genome Sequences of a Bifidobacterium Strain and a Bacteroides Strain Isolated from a Human Stool Sample
- Blood biomarker predicts dementia risk in Mexican Americans
- In animal study, implant churns out CAR-T cells to combat cancer
- Evolutionary pressures on genes associated with childlessness
- Predicting the risk of some common diseases in preimplantation fertilized embryos
- Whole genome sequencing reveals host factors underlying critical Covid-19 Whole genome sequencing in 7,491 critically-ill cases were compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical Covid-19.
- Brain Volumes Shrink With One Daily Drink
- High-content analysis of microRNAs involved in the phenotype regulation of vascular smooth muscle cells
- Genetic atlas links Alzheimer’s with brain’s blood vessels
- Realtime morphological characterization and sorting of unlabeled viable cells using deep learning
News for the month of February 2022
SARS-CoV-2 / COVID-19
- ‘Decoy’ Protein Works Against Multiple Coronavirus Variants in Early Study
- Another COVID Vaccine Garners Full FDA Approval Moderna’s Spikevax approved for adults ages 18 and up
- New omicron subvariant has new COVID symptoms
Funding / IPO
- Scipher Medicine Closes $110 Million Financing
- Fulgent Genetics Announces Strategic Investment in Spatial Genomics Fulgent Genetics is investing up to $40M to lead Spatial Genomics’ Series A financing, which totals approximately $56M
- Omada Health hits unicorn status with $192M Fidelity-led series E
- Genomenon Awarded NIH Grant to Curate the Human Genome
- Day Zero Diagnostics Announces Completion of $21M Financing
- Technology-Driven Precision Medicine Company Variantyx Secures $41.5M in Funding
- BioFluidica Announces $6 Million Series B2 Funding to Support the Commercialization of its Liquid Biopsy Microfluidics Platform, the LiquidScan™
- SPACs in Healthcare: The Hot Ticket has Cooled off
- Biofidelity Raises $23M in Series A+ Financing
- CENTOGENE Announces USD 62 Million Aggregate Equity and Debt Financings to Support Growth Plan
Mergers & Acquisitions
- Labcorp Completes Acquisition of Personal Genome Diagnostics
- Takeda-Backed Biotech Grabs $24 Million for tRNA-Based Therapies
- Element Biosciences acquires Loop Genomics to add long-read tech to DNA sequencing platform
- Maravai LifeSciences acquired MyChem for $240M in cash
Precision Medicine
- England’s first Rare Diseases Action Plan published to mark Rare Disease Day 2022
- Why rare disease needs precision medicine—and precision medicine needs rare disease
- Personalized Medicines Accounting for More Than a Third of Newly Approved Drugs Approval of 17 personalized medicines representing approximately 35 percent of all newly approved therapeutic molecular entities. Personalized medicines have now accounted for more than a third of new drug approvals for four of the last five years.
- LifeOmic Evolving Into Precision Medicine, Corporate Wellness Company
Genomics Data Platforms / Analysis
- Element Forges New Partnerships with Industry Leaders Element partners with industry leading companies such as 10x Genomics, Agilent, Dovetail Genomics, Fabric Genomics, Sentieon, QIAGEN, and many more.
- University of Edinburgh spinout company Omecu aims to revolutionize the handling of genome data by drastically reducing the time it takes to analyze millions of genetic records
Microbiome
Genomic / Genetic Testing / Liquid Biopsy
- Foundation Medicine Announces Global Collaboration With Lilly to Develop FoundationOne®CDx and FoundationOne®Liquid CDx as Companion Diagnostics for RETEVMO® and Loxo Oncology at Lilly’s Pipeline Programs
- GRAIL and Point32Health Collaborate to Offer Galleri® Multi-Cancer Early Detection Blood Test
- Foundation Medicine’s ctDNA Monitoring Assay, FoundationOne®Tracker, Granted Breakthrough Device Designation by U.S. Food and Drug Administration
- Invitae Launches its First CE-IVD Cancer Testing Kits In Europe
- Invitae Supports the Biden Administration’s Advancement of the Cancer Moonshot, Enhanced Recommendations on Genetic Testing for Cancer Treatment
Single Cell / Spatial Genomics
- NanoString to Showcase CosMx Spatial Molecular Imager at 4th Annual Spatial Genomics Summit
- Scientists map entire human gut at single cell resolution
- Akoya Biosciences Launches New Integrated Spatial Platform: Our First Interview with CEO Brian McKelligon A Mendelspod podcast
Miscellaneous
- The EU Should Not Exclude Private Firms From Voluntary Data-Sharing Frameworks for Social Good
- Natera Hit with Class Action Over Allegedly Inaccurate Prenatal Screening Tests
- Justice Department sues UnitedHealth over nearly $8 billion deal to acquire tech company
- Thermo Fisher Scientific Partners with Medidata Acorn AI to Optimize Clinical Research Site Selection and Speed Patient Enrollment in Clinical Trials
- Medable and CVS Health Announce Collaboration to Expand Clinical Trial Access
- TGEN Partners with Deepcell to Advance Detection, Analysis and Treatment of Disease
- New drug combinations found for resistant cancers
- First gene therapy for Tay-Sachs disease successfully given to two children
- Moderna expands its mRNA pipeline with three new development programs
- Harlan Robins on How T-cell Focused COVID Vaccines Can Move Us Toward Endemicity A Mendelspod podcast
- Biden Presents Ambitious Plan to Cut Cancer Death Rate in Half
- Abcam Collaborates With Twist Bioscience to Enhance Antibody Discovery for Diagnostic and Research Applications
Publications
- Combining p53 mRNA nanotherapy with immune checkpoint blockade reprograms the immune microenvironment for effective cancer therapy
- A proximal-to-distal survey of healthy adult human small intestine and colon epithelium by single-cell transcriptomics Scientists used entire human GI tracts from three organ donors to show how cell types differ across all regions of the intestines, to shed light on cellular functions, and to show gene expression differences between these cells and between individuals.
- Epidemiology and geographic distribution of BRCA1-2 and DNA Damage response genes pathogenic variants in pancreatic ductal adenocarcinoma patients
- Spatio-temporal, optogenetic control of gene expression in organoids
- A Scalable Quality Assurance Process for Curating Oncology Electronic Health Records: The Project GENIE Biopharma Collaborative Approach
- Largest bacterium ever discovered has an unexpectedly complex cell
- Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles Largest genetic study of migraine to date reveals new genetic risk factors
News for the month of January 2022
January is typically taken over by the Annual JP Morgan conference, usually held in San Francisco, but this year because of COVID, the conference was yet again held remotely. This healthcare conference tends to be rich in exciting announcements which often lay the ground for what is to come as major trends throughout the year. One often says it’s a window to what is just around the corner for the coming year, and we’d expect this to hold true also for 2022.
Interestingly, the conference started out with Illumina posting new sales record numbers and making a splash with two separate announcements: (1) the announcement of a new sequencing-by-sequencing chemistry (codenamed “Chemistry X) to gear up for its long-read Infinity which is scheduled to launch later this year, and (2) the collaboration with Nashville Biosciences to establish a clinico- genomic resource in alliance with multiple pharma industry partners.
Additional JP Morgan Healthcare Conference Highlights
- Funding
- Significant Investment Accelerates Freenome’s Multiomics Platform for the Early Detection of Cancer Freenome Roche has made an investment of $290 million, bringing Freenome’s total funding to more than $1.1 billion since the company was founded in 2014. This announcement follows Freenome’s recent Series D financing of $300 million in December.
- Mergers & Acquisitions
- mRNA Technology
- CAR-T Cell Therapy
- Century Therapeutics and Bristol Myers Squibb Enter into a Strategic Collaboration to Develop iPSC-derived Allogeneic Cell Therapies
- COVID-19 Vaccine Market
- Pfizer sales of COVID-19 vaccine climb, with tens of billions more expected next year Pfizer expects sales of its coronavirus vaccine will reach approximately $36 billion this year, an increase of $2.5 billion from what it predicted in July and more than twice what it forecast in February as countries continue to ink supply deals for more doses.
- Moderna improves forecast for 2022 sales from COVID-19 vaccine Moderna expected to record sales of about $18.5 billion in 2022 from contracts for its COVID-19 vaccine, and about $3.5 billion from potential additional purchases including booster candidates updated for variants.
- Sequencing Platforms/ Insight Generation
- X Marks the $100 Genome: Illumina Presents New Chemistry, Strong Results Illumina shares new sequencing-by-synthesis chemistry (codenamed “Chemistry X) and gears up for its long-read Infinity launch later this year, plus numerous collaborations.
- Nashville Biosciences and Illumina Announce Agreement to Establish Preeminent Clinico-Genomic Resource for Life Sciences Research & Development Nashville Biosciences and Illumina will seek to establish an alliance with multiple pharmaceutical industry partners to perform whole genome sequencing on approximately 250,000 de-identified DNA samples collected under an Institutional Review Board (IRB)-approved process over the past 15 years.
- Singular Genomics partners with several companies to enable existing NGS Products: NEBiolabs, Lexogen, Dovetail Genomics, Watchmaker Genomics, and Twist Bioscience.
- Scientists describe new approach in NEJM, using Oxford Nanopore DNA sequencing technology to improve prognosis in critically ill patients, in less than 8 hours Oxford Nanopore worked with a team led by Stanford University School of Medicine to develop a rapid, whole genome sequencing approach
- Miscellaneous
- Verily’s Lee details ‘strong’ revenue growth as company eyes employer market in 2022 There has been speculation that Verily is looking to untangle itself from Google and move outside its parent company, Alphabet, which could signal an initial public offering.
- Twist Bioscience’s Comprehensive DNA Synthesis Capabilities Expanded as Industry-Leading Enzymatic Synthesis Process Partners with PacBio, Singular Genomics Enabling New Sequencing Platforms.
- Invitae Reports Preliminary 2021 Revenue of More Than $458 Million and Billable Volume of More Than 1.16 Million
- 64 percent growth year-over-year in revenues
- 76 percent growth year-over-year in billable volumes
- Ended the year with more than 17,500 active healthcare provider accounts
- Active pharma and commercial partnerships expand by 68 percent
- SOPHiA GENETICS Reports Strong Traction in the Launch Phase of its DEEP-Lung-IV Multimodal Clinical Study
SARS-CoV-2 / COVID-19
- The origin of SARS-CoV-2 variants of concern
- Are Some Vaccine Side Effects Just in Our Heads? Talking “nocebo effect”
- Understanding Evolution of COVID-19 Driven Mortality Rate
- Early non-neutralizing, afucosylated antibody responses are associated with COVID-19 severity
- Pfizer Shares In Vitro Efficacy of Novel COVID-19 Oral Treatment Against Omicron Variant
- Biden plans giveaway of 400M masks as Omicron surges
- Covid News: U.S. Website for Free At-Home Tests Launches, With a Few Glitches
- Stanford medical specialists tackle long-COVID and its public implications
- Breakthrough infections with SARS-CoV-2 omicron despite mRNA vaccine booster dose
- Clinical outcomes among patients infected with Omicron (B.1.1.529) SARS-CoV-2 variant in southern California
Funding / IPO
- Septerna Will Take $100M to Unlock Previously Inaccessible GPCRs
- VeriSIM Life closes $15m series A round to advance AI-enabled drug research
- Significant Investment Accelerates Freenome’s Multiomics Platform for the Early Detection of Cancer Freenome Roche has made an investment of $290 million, bringing Freenome’s total funding to more than $1.1 billion since the company was founded in 2014. This announcement follows Freenome’s recent Series D financing of $300 million in December.
Mergers & Acquisitions
- Japan’s Takeda buys Adaptate Biotherapeutics to strengthen immuno-oncology portfolio
- Ginkgo Bioworks Announces Acquisition of Massachusetts COVID-19 Testing Provider Project Beacon COVID-19 LLC
- Sema4 to Acquire GeneDx, Strengthening its Market-Leading AI-Driven Genomic and Clinical Data Platform
Partnerships / Collaborations
- Parse Biosciences Announces Partnership With Research Instruments Group to Offer RNA-Seq Kits in Singapore and Southeast Asia Region
- Oncocyte Announces Development and Co-Marketing Agreement with Thermo Fisher Scientific to Expand Access to Precision Oncology
Precision Medicine
- How Regeneron Bypasses Bottlenecks to Iterate at the Scale and Speed of Science A DNAnexus white paper
- 50,000th U K Biobank participant scanned in world’s most ambitious imaging study
- Natera Announces Expansion Into Early Cancer Detection and Screening
Sequencing Platforms
- Illumina delivered a strong finish to 2021 with preliminary consolidated fourth quarter revenue of approximately $1.190 billion – up 25 per cent year-over-year.
- Illumina says EU probe of $8bn Grail deal could hit biotech investment deSouza attacks regulatory intervention over cancer test company
- PacBio and Google Collaborate to Use Machine Learning to Optimize Long-Read Sequencing Data Analysis
- World Record-Setting DNA Sequencing Technique Helps Clinicians Rapidly Diagnose Critical Care Patients Initiative led by the Stanford University School of Medicine identifies genetic diseases in as little as 7.5 hours using NVIDIA Clara, Google DeepVariant, and Oxford Nanopore Technologies sequencing.
- X Marks the $100 Genome: Illumina Presents New Chemistry, Strong Results
Genomics Data Analysis
Miscellaneous
- FDA Approves Genentech’s Vabysmo, the First Bispecific Antibody for the Eye, to Treat Two Leading Causes of Vision Loss
- Seven technologies to watch in 2022 Nature’s roundup of the innovative tools that are changing science. Includes: long-read sequencing technologies, protein structure predictions via structure-prediction algorithms, precise genome manipulation using genome-editing technologies like CRISPR-Cas9, targeted genetic therapies, CRISPR-based diagnostics, and spatial multi-omics.
- When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong Additional articles/posts written in response to the NYT article:
- Medicare Proposes to Sharply Limit Coverage of the Alzheimer’s Drug Aduhelm If finalized it would restrict coverage to patients in randomized clinical trials.
- New AZ Vaxzevria data further support its use as third dose booster
- Biogen vows to fight CMS’ draft coverage decision for Aduhelm before April finalization
- Pfizer lays off hundreds of US sales rep as fewer in-person meetings expected to remain permanent
- A Call For Data Equity: Using Pandemic Data Mishaps To Improve Health Outcomes
- 23andMe Initiates Phase 1 Clinical Trial for First Wholly-Owned Immuno-oncology Antibody for Patients with Solid Tumors
Publications
- Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2
- De novo mutation rates at the single-mutation resolution in a human HBB gene-region associated with adaptation and genetic disease
- Spatial proteogenomics reveals distinct and evolutionarily conserved hepatic macrophage niches
- Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting