News for the month of December 2023

Funding & IPOs

knownwell Raises $20M Series A From A16Z to Scale the First Patient-Centered Healthcare Home For Those With Overweight and Obesity

Mergers & Acquisitions

Bristol Myers Squibb Adds Premier Radiopharmaceutical Platform with Acquisition of RayzeBio

Precision Medicine

2023 Watch List: Top 10 Precision Medicine Technologies and Issues Includes “omics-based sequencing technologies across pathways of care, liquid biopsy for informing cancer treatments, pharmacogenomics tests for mental health conditions, and population-based genetic screening interventions.

Cell & Gene Therapy (CGT)

Kevin Davies on Gene Therapy in 2023 A Mendelspod podcast talking “Casgevy: the first CRISPR therapeutic”, the competition and pricing, some history of sickle cell disease and other disease areas, epigenetic editing (Tome Bio), and He Jiankui who is out of jail working on CRISPR.

(Omics) Data Platform / Sequencing / Analysis / Instruments

Illumina Technical spotlight: Detecting small- and medium-length copy number variants by whole-genome sequencing

Genome Editing / CRISPR / Cas9

Artificial Intelligence / Machine Learning

AI explodes – Taking the pulse of artificial intelligence in medicine. The 3rd 2023 Stanford Magazine issue is dedicated to AI.
‘Podnosis’: Navigating the AI hype in healthcare A podcast with Dr. Nigam Shah, Chief Data Scientist at Stanford Health Care, shares insights into the direction of the industry and anticipated developments as AI adoption gains momentum. In an interview with Heather Landi from Fierce Healthcare

Miscellaneous

Ancient DNA reveals how virus affecting chickens evolved and became more lethal
2023 Breakthrough of the year Blockbuster obesity/weight loss drugs show promise for a wider range of health benefits. A new class of therapies is breaking the mold, and there’s a groundswell of hope that they may dent rates of obesity and interlinked chronic diseases. The drugs mimic a gut hormone called glucagon-like peptide-1 (GLP-1), and they are reshaping medicine, popular culture, and even global stock markets in ways both electrifying and discomfiting.
Rady to Merge with Children’s Hospital of Orange County Under Name of Rady Children’s Health
Illumina sets a date to divest Grail following antitrust appeal ruling Illumina will look to start fresh as it sets a timeline to completely relieve itself of Grail and its cancer-detecting blood test

Publications

Discovery of a structural class of antibiotics with explainable deep learning
Stanford Medicine-led study finds way to predict which of our organs will fail first A new study led by Stanford Medicine scientists demonstrates a simple way of studying organ aging by analyzing distinct proteins, or sets of them, in blood, enabling the prediction of individuals’ risk for diseases. See the full paper: Organ aging signatures in the plasma proteome track health and disease
Dictionary of immune responses to cytokines at single-cell resolution
Evolving insights in blood-based liquid biopsies for prostate cancer interrogation
Scientists unveil complete cell map of a whole mammalian brain This atlas serves as a map for the mouse brain, describing the type, location, and molecular information of more than 32 million cells and providing information on connectivity between these cells.
tRNA shape is an identity element for an archaeal pyrrolysyl-tRNA synthetase from the human gut
Neurosurgery elucidates somatic mutations Study combines gene sequencing on surgical brain samples to expand the understanding of nononcologic brain disease through the study of somatic mutations. Somatic mutations are now increasingly being implicated in neurological disorders beyond cancer, particularly in children with congenital brain and cerebrovascular diseases.

News for the month of November 2023

Funding & IPO

AdaptX Raises $10M In Funding
Genome Insight Raises $23M in Series B-2 Funding
AI-enabled radiology performance platform Covera Health secures $50M
GSK pays 23andMe $20 million for access to user DNA information
Health AI startup Olive to shut down The startup was once valued at $4 billion during the height of the digital health funding boom

Mergers & Acquisitions

US health insurers Humana, Cigna in talks to merge -source a deal that could exceed $60 billion in value and would be certain to attract fierce antitrust scrutiny.

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

State of Sequencing 2023: Shawn Baker and Keith Robison A Mendelspod podcast, focusing on Illumina, long-read sequencing, PacBio versus Oxford Nanopore, Element, MGI, and the rise of proteomics.
SomaLogic announces new SomaScan® 11K Platform

Artificial Intelligence / Machine Learning

Genome Editing / CRISPR / Cas9

Miscellaneous

AstraZeneca launches new company to share digital clinical trial expertise with CROs, pharmas
White House establishing initiative focused on women’s health research The initiative will be led by first lady Jill Biden.
FDA approves Eli Lilly’s diabetes drug Mounjaro for obesity under new name, Zepbound
23andMe launched 23andMe+ Total Health, a membership program that bundles exome sequencing, blood testing, and clinical services with a focus on prevention and early detection.
Amazon introduces compelling new health care benefit for Prime members for only $9 a month (or $99 a year) Amazon is now offering a One Medical for Prime membership, including 24/7 virtual care, for $9 per month, or $99 a year. That’s $100 less than the standard One Medical membership fee, according to the company.
‘We need more women,’ says only female winner of Millennium Technology prize Women form just 16% of the nominees for next year’s award, but Nobel laureate Prof Frances Arnold says gender balance will come through girls working in science from a young age
Biden’s Intent to Appoint Dr. W. Kimryn Rathmell as Director of the National Cancer Institute

Publications

News for the month of October 2023

October is the month of the Nobel Prize announcements. This year’s Nobel Prize in Physiology or Medicine recognized Katalin Karikó and Drew Weissman for their discoveries of nucleoside base modifications that enabled the development of effective mRNA vaccines against COVID-19, among others. They demonstrated that mRNA molecules produced with modified nucleoside bases evade innate immune recognition which improves stability and protein expression. These findings, combined with the development of efficient systems for in vivo mRNA delivery, stabilization of the SARS-CoV-2 spike antigen, and unparalleled investments by industry and governments, led to the approval of two highly successful mRNA-based COVID-19 vaccines in late 2020.

Other noteworthy news for the month of October include the Genomics team at Google Health releasing the new method DeepSomatic which detects subclonal variants from tumor and normal input BAMs, PacBio announcing a complete computational workflow for human whole genome sequencing data analysis, Genomics England announcing a list of rare conditions that will be included in the Generation Study which will look at the DNA of over 100,000 babies to consider whether whole genome sequencing could be rolled out as part of a future newborn screening program (to be started end of 2023), Thermo Fisher Scientific acquiring Olink (a provider of solutions for advanced proteomics discovery and development), and Illumina being ordered by EU regulators to sell the cancer test developer Grail after it previously bought the $8bn company without the regulatory approval.

Funding & IPO

PhaseV raises $15m for ML technology to optimise clinical trial design
CVS, Mayo Clinic, Spark Capital back Abridge’s $30M round to scale up generative AI-powered notetaking for doctors
Biotech Bankruptcies Skyrocket This year has seen a record high of 28 biotech bankruptcies so far, and more will come by year’s end.

Mergers & Acquisitions

Thermo Fisher Scientific to Acquire Olink, a Leader in Next-Generation Proteomics

Precision Medicine

BioNTech Expands Late-Stage Clinical Oncology Portfolio with Initiation of further Phase 2 Trial with mRNA-based Individualized Neoantigen Specific Immunotherapy in New Cancer Indication
Genomics England announces list of rare conditions to be included in world-leading research study 223 individual conditions (conditions list) caused by genetic changes in over 500 different genes will be included in the initial list of rare diseases to be studied in the Generation Study, which aims to start in NHS hospitals in late 2023. The study will look at the DNA of over 100,000 babies and gather evidence to consider whether whole genome sequencing could be rolled out as part of a future newborn screening program.
International Newborn Sequencing Projects Discuss Differences, New Future Goals While some projects are in the preparation stage, others have enrolled their first infants, and at least one project has returned results to thousands of participants, among them more than a hundred positive results. A dozen projects provided updates during the two-day meeting.

(Omics) Data Platform / Sequencing / Analysis / Instruments

The Genomics team in Google Health released the new method DeepSomatic which detects subclonal variants from tumor and normal input BAMs.
Oxford Nanopore Technologies and Fabric Genomics Collaborate to Launch an Integrated Whole-Genome Sequencing Solution to Advance the Future of Paediatric Patient Care
Revvity and Element Biosciences Announce Collaboration to Improve Next Generation Sequencing Research Workflow
Mission Bio Announces High Precision Detection of Variants For Tapestri® Platform in NIST Genome Editing Consortium Initial Study
BioBam Launches OmicsBox 3.1: Revolutionizing Omics Data Analysis for Single-Cell and Genetic Variation Studies.
PacBio Announces Complete Computational Workflow for Human Whole Genome Sequencing Data Analysis PacBio announced the availability of PacBio WGS Variant Pipeline – a complete, standardized computational method for HiFi whole genome sequencing (WGS) data analysis.

Genomic / Genetic Testing / CDx

Artificial Intelligence / Machine Learning / LLMs

Managing AI Risks in an Era of Rapid Progress
Artificial Intelligence for predictive biomarker discovery in immuno-oncology: a systematic review
Biden to Issue First Regulations on Artificial Intelligence Systems
Pistoia Alliance Launches Lab of the Future Report, Finding AI is Set to be Top Technology Investment for Life Sciences Companies Over Next Two Years
Predictions of the effect of drugs on individual cells are now possible This new machine learning method allows to predict how individual cells will respond to a specific drug treatment, offering hope for more accurate diagnoses and therapeutics.

Cell and Gene Therapy (CGT)

Are Cell and Gene Therapy programs a better bet? This comparative analysis suggests durable CGTs for orphan diseases and hematological cancers are 2-3.5X more likely to succeed than other therapeutic modalities for similar conditions or compared to the entire drug pipeline.

Miscellaneous

Sutter Health unveils San Francisco-based innovation center, calls for startup, VC collaborators
Illumina loses more patents for DNA-sequencing technology
Making genetic prediction models more inclusive
Sapio Sciences Unifies Small- and Large-Molecule Discovery on a Single Platform They launch the Sapio Chemistry solution, which unifies small-molecule and large-molecule discovery workflows on a single platform.
Illumina responds to European Commission’s divestiture order Under the terms of the EC’s order, Illumina will have twelve months to divest GRAIL, with the potential for a three-month extension, and will be permitted to explore a range of structures including, but not limited to, a third-party sale or a capital markets transaction. Illumina will lead the divestiture process and, with the assistance of financial and legal advisors, has already begun the preparatory work necessary for divestment, if needed. Illumina maintains that the Commission does not have jurisdiction over this acquisition. The company’s jurisdictional challenge remains pending at the European Court of Justice (ECJ).
Walgreens launches direct-to-consumer telehealth
Novo Nordisk stops Ozempic kidney trial after early signs of success
Pioneers of mRNA COVID vaccines win medicine Nobel Prize Katalin Karikó and Drew Weissman laid the groundwork for immunizations that were rolled out during the pandemic at record-breaking speed
EU regulators to order Illumina to sell $8bn cancer treatment group EU regulators will order US biotech Illumina to sell cancer test developer Grail after it bought the $8bn company without the approval of Brussels. The step is intended to deepen the punishment for Illumina after Brussels fined the world’s largest gene-sequencing company €432mn in July for defying what regulators described as a “cornerstone” of their authority.
Sapio Sciences Launches Sapio Jarvis℠, the First Scientific Data Cloud Made for Scientists

Publications

Liquid-biopsy proteomics combined with AI identifies cellular drivers of eye aging and disease in vivo
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients
Genetics of vegetarianism: A genome-wide association study There were 202 significant variants associated with 11 genes possibly influencing vegetarianism. The results support a role for genetics in choosing a vegetarian diet and open the door to future studies aimed at further elucidating the physiologic pathways involved in vegetarianism.
Rare variant associations with plasma protein levels in the UK Biobank Highlights a considerable role for rare variation in plasma protein abundance and the value of proteogenomics in therapeutic discovery. The study identified over 14,000 associations between common genetic variants and proteins circulating in the blood, over 80% of which were previously unknown. This landmark study was carried out by the Pharma Proteomics Project, a collaboration between 13 leading biopharmaceutical companies.
A single-cell genomic atlas for maturation of the human cerebellum during early childhood
Multiomic profiling of cutaneous leishmaniasis infections reveals microbiota-driven mechanisms underlying disease severity
Integrating spatial transcriptomics data across different conditions, technologies and developmental stages Presents a graph attention neural network called STAligner for integrating and aligning ST datasets, enabling spatially aware data integration, simultaneous spatial domain identification and downstream comparative analysis.
Large-scale plasma proteomics comparisons through genetics and disease associations
Genotyping, sequencing and analysis of 140,000 adults from Mexico City
Genomic medicine in neonatal care: progress and challenges
Natural Language Processing for the Identification of Incidental Lung Nodules in Computed Tomography Reports: A Quality Control Tool Demonstrates that AI is capable of detecting incidental lung cancer in written medical reports
OvaPrint™ – a cell-free DNA methylation liquid biopsy for the risk assessment of high-grade serous ovarian cancer
A dedicated cytoplasmic container collects extrachromosomal DNA away from the mammalian nucleus
Proof-of-principle study shows immunity from routine vaccines has potential to fight cancer
Tissue morphology influences the temporal program of human brain organoid development
Plasma proteomic associations with genetics and health in the UK Biobank The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. This public–private partnership provides the scientific community with an open-access proteomics resource of considerable breadth and depth to help to elucidate the biological mechanisms underlying proteo-genomic discoveries and accelerate the development of biomarkers, predictive models and therapeutics¹.

News for the month of September 2023

September brought incredible advancements in the AI field with Google DeepMind classifying the potential effects of 71 million ‘missense’ mutations to pinpoint the causes of genetic disease. The potential here is enormous as this allows prediction which DNA changes are benign and which are “likely pathogenic”, particularly for “variants of uncertain significance”. DeepMind released this catalogue of ‘missense’ mutations, which is called AlphaMissense, where researchers can learn what possible effect each of these mutations may have.

Over the last few years and prior to the release of AlphaMissense, Google DeepMind also released the AlphaFold Protein Structure Database (AlphaFold DB), which by now includes the predicted structure of nearly 200 million catalogued proteins. To no surprise, the 2023 Albert Lasker Basic Medical Research Award, also announced during the month of September, now honors the two scientists that invented AlphaFold. Demis Hassabis and John Jumper (both of Google DeepMind, London), which led the AlphaFold team and propelled structure prediction to an unprecedented level of accuracy and speed, are sharing the price.

Other noteworthy news for the month of September include a recently released study by the “St. Gallen Consortium” at the University of St. Gallen and Technische Hochschule Ingolstadt which revealed that R&D productivity continues to be the industry’s grand challenge, and that the spending has increased to a massive $6.16 Billion per drug approval which puts a new perspective on the pharma R&D process.

Funding / IPO

Adela Announces $48 Million in Financing and Leadership Addition to Advance Tissue-Agnostic Minimal Residual Disease (MRD) Monitoring Product Portfolio Based on Genome-Wide Methylome Approach Lisa Alderson will join Adela as interim Chief Executive Officer (CEO)
Broken String Biosciences Closes $15M Series A Funding Round New investors include Illumina Ventures, Mérieux Equity Partners, and HERAN Partners
Golden Helix Receives New $400K NIH SBIR Grant
Harbinger Health Raises $140 Million in Series B Funding to Accelerate Advancement of its Screening Platform for Early-Stage Cancer
Medeloop Raises $8M in Seed Funding The company intends to use the funds to launch an end-to-end solution for early stage clinical research. By employing AI techniques, the platform streamlines researcher discovery by simplifying grant applications, data collection, harmonization, biomarker and trend identification, and manuscript submission.
AI-focused startup Generate:Biosciences Raises $273M in Series C Financing with New Investors Amgen, NVIDIA
Integral Snags $7M In Seed Funding for Its Healthcare Data Privacy Platform The San Francisco-based startup is developing technology that seeks to speed up the process of exchanging sensitive health data while still maintaining robust privacy protection.

Mergers & Acquisitions

InformedDNA Acquires gWell Health

Precision Medicine

Mirvie becomes first RNA-based pregnancy health-focused company to receive clinical laboratory improvement amendments (CLIA) certification
Guardant Health Receives Coverage for Guardant Reveal™ from Geisinger Health Plan First blood-only liquid biopsy test for minimal residual disease now covered for patients with stage II or III colorectal cancer

(Omics) Data Platform / Sequencing / Analysis / Instruments

Single-Cell Genomics / Spatial Genomics

Artificial Intelligence / Machine Learning / ChatGTP

The 2023 Albert Lasker Basic Medical Research Award honors two scientists for the invention of AlphaFold, the artificial intelligence (AI) system that solved the long-standing challenge of predicting the three-dimensional structure of proteins from the one-dimensional sequence of their amino acids. Demis Hassabis and John Jumper (both of Google DeepMind, London) led the AlphaFold team and propelled structure prediction to an unprecedented level of accuracy and speed. This transformational method is rapidly advancing our understanding of fundamental biological processes and facilitating drug design.
GE HealthCare, Mass General Brigham codevelop AI algorithm for scheduling
Deep Genomics Introduces the Most Advanced AI Foundation Model for RNA Disease Mechanisms and Candidate Therapeutics
Sirona announced that on November 13^th,they will introduce a new software paradigm in radiology, and launch three industry re-defining products Sirona will launch RadOS “Euphrates”, a “Radiology Operating System” platform, and three new products
How Effective Is Big Pharma Internal R&D And How To Boost It?
Dante Genomics Partners With Amazon Web Services (AWS) To Launch AI Platform For Precision Medicine And Clinical Genomics Dante Genomics utilizes the large language model (LLM) Amazon Bedrock on the AWS platform to enable Dante customers to better access and navigate its broad and growing collection of more than 130 genomic reports with genomic applications across clinical areas, including proactive screening, longevity and personalized medicine.
The Fall of Babylon Is a Warning for AI Unicorns When it went public in 2021, Babylon Health was valued at over $4 billion. Now it has declared bankruptcy. Insiders say it could never live up to its hype
Predicting pathogenic protein variants Machine-learning algorithm uses structure prediction to spot disease-causing mutations
DeepMind’s new AI tool classifies the effects of 71 million ‘missense’ mutations to pinpoint the causes of genetic disease and releases the catalogue of ‘missense’ mutations where researchers can learn more about what effect they may have

Miscellaneous

Deloitte Digital and Salesforce Join Forces to Accelerate Innovation for the BioPharma Industry
Congenica and myTomorrows Announce Partnership to Advance Precision Oncology by Facilitating Rapid Access to Clinical Trials
A Fourth of U.S. Health Visits Now Delivered by Non-Physicians Health care provided by nurse practitioners and physician assistants expected to rise as their ranks grow faster than physicians’
How common infections can spark psychiatric illnesses in children
Intermountain, UPMC switching from Oracle Health’s Cerner EHR to Epic enterprisewide citing higher physician satisfaction scores as one key factor.
Medidata Launches Industry’s Comprehensive Program to Support Clinical Trial Diversity Initiatives
Analysis of pharma R&D productivity – a new perspective needed Pharma R&D spending has increased to a massive $6.16 Billion per drug approval – the industry business model is under pressure.
Geneticist J. Craig Venter: ‘I consider retirement tantamount to death’ Craig Venter discusses his new book The Voyage of Sorcerer II: The Expedition That Unlocked the Secrets of the Ocean’s Microbiome

Publications

Proteomic aging clock predicts mortality and risk of common age-related diseases in diverse populations
Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer
Longitudinal genomic surveillance of carriage and transmission of Clostridioides difficile in an intensive care unit
Mismatch repair deficiency is not sufficient to elicit tumor immunogenicity Study reveals why immunotherapy doesn’t work for all cancer patients
Genetically modifying individual cells in animals Researchers have developed a method that lets them genetically modify each cell differently in animals. This allows them to study in a single experiment what used to require many animal experiments. Using the new method, the researchers have discovered genes that are relevant for a severe rare genetic disorder.
Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants GWAS studies identified approximately 5,000 genetic variants associated with schizophrenia. Scientists have now found that some of the genetic variants identified regulate or alter the expression of genes involved in the condition.
Intertumoral lineage diversity and immunosuppressive transcriptional programs in well-differentiated gastroenteropancreatic neuroendocrine tumors Findings highlight the transcriptomic heterogeneity that distinguishes the cellular landscapes of GEP-NET anatomic subtypes and reveal potential avenues for future precision medicine therapeutics.
Accurate proteome-wide missense variant effect prediction with AlphaMissense
COSMOS: a platform for real-time morphology-based, label-free cell sorting using deep learning

News for the month of August 2023

Highlights for the month of August included the publication of the full sequence of the Y chromosome published in two different papers. The Y chromosome, once considered an unimportant “graveyard” for genes destined to disappear and very small in size, was hard to sequence mostly because of its repetitive regions. Researchers (National Human Genome Research Institute, and the Telomere-to-Telomere consortium) have now analyzed and detailed the complex arrangement of 62 million bases from the Y chromosome, while a second research group (Jackson Laboratory for Genomic Medicine) created and analyzed an assembly of 43 human Y chromosomes which revealed extensive complexity and variation. Furthermore, the NIH unveiled a comprehensive dataset to help cancer researchers uncover new molecular insights into how cancers develop and progress that standardizes genomic, proteomic, imaging, and clinical data from individual studies of more than 1,000 tumors across 10 cancer types. The pan-cancer proteogenomic dataset is described in detail in the Proteogenomic data and resources for pan-cancer analysis.

Other news for the month included Illumina being investigated by the SEC in relation to the $7.1B Grail acquisition, this about a month after the European Commission fined the company approximately $478.9 million (€432 million) for completing the merger in August 2021 before the Commission had weighed in on whether the deal was anti-competitive.

Funding / IPO

QuantHealth Announces $15M Series A for its AI Platform That Enhances Success of Clinical Trials
Liquidation: Digital Health Company Babylon Files For Bankruptcy In U.S., Will Liquidate
Viome Life Sciences, Closes $86.5M Oversubscribed Series C Funding Round
Alzheimer’s Drug Discovery Foundation Joins Astrocyte Pharmaceuticals’ $6M Pre-Series B Financing Round to Expand Development of Cerebroprotectant AST-004
Unlocking the potential of whole population health data through research driver programmes With renewed funding of £72.3 million for the next five years, HDR UK has an ambitious new strategy that will focus on empowering researchers, promoting partnerships and accelerating trustworthy data use. As an integral part of the strategy, five research driver programmes will test and improve trustworthy health data infrastructure for the wider benefit of the research community.
Lightcast Discovery Nabs $49M in Series B Funding to Commercialize Single-Cell Analysis Tech
Biocanic Closes $600,000 Seed Round to Accelerate Growth of Its Health Intelligence Platform
Chinese Company Neurophth Secures Nearly 95 Million USD in Series C+ Financing for Gene Therapy Clinical Trials

Mergers & Acquisitions

PacBio Enters into Agreement to Acquire Apton Biosystems to Accelerate the Development of a Next Generation, High Throughput, Short-read Sequencer PacBio will Combine Apton’s Proprietary Sequencing Technology With its Highly Accurate Sequencing by Binding Chemistry to Develop a High-Throughput Sequencer Designed to Deliver Billions of Reads per Flow Cell

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Watchmaker Genomics Announces Co-Exclusive License to Disruptive DNA Methylation Technology and Strategic Supply Agreements with Exact Sciences
Complete Genomics Garners the Prestigious 2023 R&D 100 Awards for Cutting-Edge Innovation Complete Genomics was awarded in the Analytical/Test category and was bestowed in recognition of ultra-high throughput gene sequencer DNBSEQ-T20×2*(“T20”)
PacBio Begins Commercialization of the Onso Short-Read Sequencing System

Multi-Omics

DNAnexus and BigOmics Analytics Join Forces to Improve Proteomics and Transcriptomics Data Visualization and Interpretation As part of the agreement, BigOmics’ collaborative analysis environment, Omics Playground, is now available on the DNAnexus precision health data platform, providing customers with a fully integrated solution to better understand large-scale proteomics and transcriptomics data.

Artificial Intelligence / Machine Learning / ChatGPT

Epic, Microsoft expand partnership to accelerate generative AI in healthcare
AWS launches interactive healthcare cloud training
Scientists employ AI to predict brain cancer outcomes
Current large language models will not fix health care. Here’s what could
A computational genetic model will make it possible to predict increased genetic risk for breast cancer
120 Mind Blowing AI Tools
PatientGPT replaces 6 months of drug research in seconds
Multimodal medical AI A Google blog post, outlining a spectrum of approaches to bringing multimodal capabilities to LLMs and share some exciting results on the tractability of building multimodal medical LLMs, as described in three recent research papers.
Preparing Physicians for the Clinical Algorithm Era The U.S. government took steps to ensure that clinical decision support algorithms are safe for clinical use. The next and larger step will be teaching physicians how to use the algorithms effectively. The NEJM article recommends physician education in utilization of clinical decision support algorithms, emphasizing the need for probabilistic reasoning skills.
Algorithmic blood test analysis will ease diagnosis of cancer types, guide treatment

Miscellaneous

Average cost of healthcare data breach reaches $11M, report finds
Europe spent €600 million to recreate the human brain in a computer. How did it go?
Genome Medical Recognized as One of America’s Fastest-growing Companies on the 2023 Inc. 5000 List
Stevenage: Plans approved for £900m Life Science campuses
The campus will provide 1.6 million sq ft of lab and office space, as well as creating 5,000 new jobs. It will sit alongside GSK’s existing Global R&D facility and Stevenage Bioscience Catalyst, and incorporate the UK’s Cell and Gene Therapy Catapult.
Illumina expands genomics capabilities in India with opening of Solutions Center
NIH unveils comprehensive proteogenomic dataset to help cancer researchers unravel molecular mysteries The National Institutes of Health is releasing a comprehensive dataset that standardizes genomic, proteomic, imaging, and clinical data from individual studies of more than 1,000 tumors across 10 cancer types. Researchers from around the world will be able to use this publicly available resource to uncover new molecular insights into how cancers develop and progress. The dataset was generated by the Clinical Proteomic Tumor Analysis Consortium (CPTAC) at the National Cancer Institute, part of the National Institutes of Health.
Illumina says SEC is investigating Grail acquisition The U.S. Securities and Exchange Commission is investigating the $7.1 billion acquisition of Grail. The news comes about a month after the European Commission fined the company approximately $478.9 million (€432 million) for completing the merger in August 2021 before the Commission had weighed in on whether the deal was anti-competitive.
Q/A: AiCure SVP Sondra Pepe Talks How Digital Health Can Improve Access to Clinical Trials
How primary care is poised to support reproductive health and abortion in the post-Roe era
Verily Appoints Andrew Trister, MD, PhD as Chief Scientific Officer
Verily and OneOncology Announce Collaboration to Advance Cancer Research

Publications

Economic and health impact modelling of a whole genome sequencing-led intervention strategy for bacterial healthcare-associated infections for England and for the USA
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer Genetic breast cancer study alters guidelines in Sweden. New testing guidelines recommends that additional 11 genes associated with elevated risk for breast cancer should be included in testing, instead of just testing for BRCA1 and BRCA2.
Activation of thousands of genes in the lungs and kidneys by sepsis is countered by the selective nuclear blockade
A Pooled Cell Painting CRISPR Screening Platform Enables de novo Inference of Gene Function by Self-supervised Deep Learning
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
The complete sequence of a human Y chromosome
Scientists reveal how proteins drive growth of multiple cancer types – Scientists have completed a deep analysis of the proteins driving cancer across multiple tumor types, information that can’t be assessed by genome sequencing alone. Understanding how proteins operate in cancer cells raises the prospect of new therapies that block key proteins that drive cancer growth, or therapies that trigger immune responses to abnormal proteins created by cancer cells.
Proteogenomic data and resources for pan-cancer analysis
Patterns in Cancer Incidence Among People Younger Than 50 Years in the US, 2010 to 2019 This nationwide cohort study found that the incidence of early-onset cancers continued to increase in the US from 2010 to 2019. While breast cancer had the highest number of incident cases, gastrointestinal cancers had the fastest-growing incidence rates among all early-onset cancers. These data may have implications for the development of surveillance strategies and funding priorities.
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel Researchers at Tel Aviv University have developed a computational model that makes it possible to predict each woman’s genetic risk of developing breast cancer based on her genetic profile. The research was based on a large-scale international study that included genomic data of about a quarter of a million women with and without breast cancer, and applied its findings to about 2,000 Israeli women.
Scientists reveal two paths to autism in the developing brain
Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis Using human “mini-brain” models known as organoids, Mayo Clinic and Yale University scientists have discovered that the roots of autism spectrum disorder may be associated with an imbalance of specific neurons that play a critical role in how the brain communicates and functions.
DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes
DNA methylation networks underlying mammalian traits Study evaluated methylation levels in highly conserved DNA sequences, profiling ~15,000 samples across 348 mammalian species. Phylogenetic trees suggest that the divergence of DNA methylation profiles closely mirrors genetic evolution. Species with longer maximum life spans have developed tidier methylation patterns within the genome, characterized by unique peaks and troughs of methylation. Methylation patterns associated with maximum life spans generally differ from those connected to age or interventions that affect mortality risk in mice.
Universal DNA methylation age across mammalian tissues study talks about the development of universal pan-mammalian clocks, using 11,754 methylation arrays from the Mammalian Methylation Consortium, which encompass 59 tissue types across 185 mammalian species.
Prediction of mechanistic subtypes of Parkinson’s using patient-derived stem cell models Study shows that shown that machine learning can accurately predict subtypes of Parkinson’s disease using images of patient-derived stem cell
Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis ‘Mini-brain’ study reveals the roots of autism spectrum disorder may be associated with an imbalance of specific neurons that play a critical role in how the brain communicates and functions. The specific cells are known as excitatory cortical neurons.
Towards a post-pandemic future for global pathogen genome sequencing The availability, speed and effectiveness of genomic sequencing increased dramatically during the pandemic, as scientists worldwide rushed to find ways to track and predict the virus’s movement and evolution. It also was critical in the development of effective vaccines. Biologists argue that building on this momentum is critical in society’s response to future pandemics, but it requires significant collaboration and investment now, before the next pathogen is threatening society.

News for the month of July 2023

Also in July, Illumina was carrying some of the major headlines in the sector, albeit not in a positive way: Illumina was hit with a record $476M EU antitrust fine over the Grail deal which followed shortly after the layoff news announced at the end of last month as part of an effort to cut more than$100M in expenses this year.

Other news for the month of July included Myriad Genetics announcing a new $90M asset-based credit facility, Causaly raising $60M in Series B to catalyze their AI-powered preclinical discovery platform, genome sequencing being shown to be highly effective at diagnosing genetic disorders in newborns and infants, Amazon launching a generative AI-based clinical documentation service, and the finding that a common variant in an immune-system gene may be linked with a much higher chance of dodging symptoms after SARS-CoV-2 infection.

Funding / IPO

Precision Medicine

Gene therapy eyedrops restored a boy’s eyesight, could help millions
Children’s Hospital Colorado Launches State’s First Pediatric Precision Medicine Institute
Illumina and Pillar Biosciences partner to improve access to personalized cancer treatment options
FDA Clears Numares Health Cardiovascular Diagnostic Test and Core Technology Platform
Genome sequencing highly effective at diagnosing genetic disorders in newborns and infants
The Alliance for Genomic Discovery announces founding biopharma members: AbbVie, Amgen, AstraZeneca, Bayer, and Merck Alliance aims to accelerate therapeutic development and expand the diversity of genomic data through inclusion of more samples from currently underrepresented ancestries. The multiyear agreement aims to accelerate development of therapeutics through large-scale genomics and the establishment of a preeminent clinical genomic resource. Member organizations AbbVie, Amgen, AstraZeneca, Bayer, and Merck will co-fund the whole-genome sequencing (WGS) of 250,000 samples and have access to the resulting data for use in drug discovery and therapeutic development.
The Caris Precision Oncology Alliance Welcomes the Icahn School of Medicine at Mount Sinai

(Omics) Data Platform / Sequencing / Analysis / Instruments

Genomic/Genetic Testing / CDx / Liquid Biopsy

DELFI Diagnostics Licenses GEMINI Technology from Johns Hopkins University: Study Demonstrates High Performance for Early Stage Lung Cancer Detection When Integrated with DELFI Diagnostics’s Platform
Novel machine-learning blood test detects cancers with genome-wide mutations in single molecules of cell-free DNA
Vital Biosciences Introduces Revolutionary Point-of-Care Lab Testing Platform to Transform Patient Care
MGI Launches “What If Campaign” Under “What If?”, MGI sets out to redirect the industry dialogue from competition and comparison of platform specifications to customer-centered solutions by prompting scientists, researchers and decision-makers to tap into the possibilities of their most pressing genomics needs and desires being met.
Guardant Health announces reimbursement approval of Guardant360^® CDx liquid biopsy test in Japan
Tempus Announces Companion Diagnostic Collaboration with TScan Therapeutics The focus will be on the development of T cell receptor (TCR)-engineered T cell therapies (TCR-T) for the treatment of cancer patients
Comprehensive tissue deconvolution of cell-free DNA by deep learning for disease diagnosis and monitoring Newly developed tool that could improve liquid biopsy – the study identified specific methylation patterns unique to each tissue, potentially helping to Identify the specific tissue or organ associated with cfDNA alterations picked up by testing, a critical challenge for accurate diagnosis and monitoring of diseases

Genome Editing / CRISPR / Cas9

Fanzor is a eukaryotic programmable RNA-guided endonuclease RNA-guided system in animals shows promise for human genome editing
Benjamin Oakes’ Scribe Therapeutics is developing specialized Crispr proteins to tackle a wide range of diseases–and it’s garnered deals with Big Pharma potentially worth over $4 billion
Development of super-specific epigenome editing by targeted allele-specific DNA methylation Demonstrates targeted epigenome editing in the promoter region of several genes using sgRNA/dCas9 complexes
Multiplex CRISPR editing of wood for sustainable fiber production
Caribou Biosciences Reports Positive Clinical Data from Dose Escalation of CB-010 ANTLER Phase 1 Trial in r/r B-NHL
Crispr/Gene Editing Technology Creates New Treatment Possibilities for Alzheimer’s Disease Two new CRISPR-based strategies offer hope for next-generation Alzheimer’s treatments: One seeks to dampen the impact of the most common Alzheimer’s risk gene; the other aims to decrease production of a toxic protein in the brain.

Spatial Omics

Vizgen Installs 100th MERSCOPE^® Instrument

Artificial Intelligence / Machine Learning / Large Language Models

Amazon launches generative AI-based clinical documentation service
Unlocking the Future of Life Sciences Research with AI, LLMs and Knowledge Graphs A post written by the Causaly team members and their thoughts on how AI, LLM, and Knowledge Graphs converge in Life Sciences and the capabilities needed to translate this into tangible benefits for research organizations.
Big pharma is warming to the potential of AI An Economist article
Putting ChatGPT’s Medical Advice to the (Turing) Test: Survey Study They concluded that ChatGPT responses to patient questions were weakly distinguishable from provider responses. Laypeople appear to trust the use of chatbots to answer lower-risk health questions. It is important to continue studying patient-chatbot interaction as chatbots move from administrative to more clinical roles in health care.

Miscellaneous

Colossal Biosciences Launches Partnership with Elephant Havens Wildlife Foundation to Develop New Models for the Successful Reintroduction of Orphan Elephants Using AI
Masked reference genomes A Broad Institute blog post demonstrating the impact of reference genomes on downstream germline variant calling
FDA approves Alzheimer’s drug Leqembi, paving way for broader Medicare coverage
A new study of sick infants sees potential in DNA sequencing, but also a need for better ways to interpret the genome There is growing evidence that DNA sequencing can help diagnose the health care system’s youngest patients — babies in their first year of life. But a new report resurfaces a thorny challenge in researchers’ quest to turn long strings of A’s, T’s, G’s, and C’s into information doctors and patients can use: Reading the genome is one challenge, interpreting it is another.
Illumina hit with record $476 million EU antitrust fine over Grail deal
Digital health for aging populations
An Ancient Battle Is Playing Out in the DNA of Every Embryo
SMH Breaks Ground on $75 Million Research Facility
Thermo Fisher Scientific Introduces New Reproductive Health Assays to Accelerate Fertility Research
Do you take part in genetic studies? That might be in your genes A Nature article suggesting findings could help researchers better understand ‘participation bias’ in studies that link genomics with health, behaviour and other traits.
Aging is complicated – a biologist explains why no two people or cells age the same way, and what this means for anti-aging interventions

Covid-19 / SARS-CoV-2

Had COVID but no symptoms? You might have this genetic mutation A common variant in an immune-system gene is linked with a much higher chance of dodging symptoms after SARS-CoV-2 infection
Ginkgo Bioworks and the Ministry of Health of the Republic of Botswana Announce Pathogen Monitoring Program at Key Ports of Entry
Asep Inc.’s A.I.-Based Sepsis Technology Identifies COVID-19 Severity from a Blood Sample Severe COVID-19 is suggested to be a form of sepsis based on analysis of blood gene expression signatures

Publications

Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer Novel blood testing technology developed by researchers at the Johns Hopkins Kimmel Cancer Center combines genome-wide sequencing of single molecules of DNA shed from tumors and machine learning may allow earlier detection of lung and other cancers.
The genetic architecture and evolution of the human skeletal form Study identifies specific genetic variants that affect the skeletal form and ties a major evolutionary facet of human anatomical change to pathogenesis
Organization of the human intestine at single-cell resolution
Genetically instrumented LDL-cholesterol lowering and multiple disease outcomes: A Mendelian randomization phenome-wide association study in the UK Biobank The researchers applied deep learning to analyze more than 30,000 full-body X-rays from the UK Biobank.
Associations of Sex, Race, and Apolipoprotein E Alleles With Multiple Domains of Cognition Among Older Adults
Antibiotics in the clinical pipeline as of December 2022 The clinical pipeline of antibiotics shows 62 new antibiotics in development with 34 of those based on structures not previously used as an antibiotic.
CSF proteome profiling reveals highly specific biomarkers for dementia with Lewy bodies
A framework for identifying targets for individualized therapy in genetic disease
Burden of serious harms from diagnostic error in the USA
Donanemab in Early Symptomatic Alzheimer Disease The TRAILBLAZER-ALZ 2 Randomized Clinical Trial
Brain structure and phenotypic profile of superagers compared with age-matched older adults: a longitudinal analysis from the Vallecas Project Study suggests razor-sharp memory function in older adults linked to faster movement and better mental health
Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region The genetic data and electronic medical records from 35,968 patients was leveraged as part of the UCLA ATLAS Community Health Initiative. 376 clusters were identified, including clusters with patients of Afro-Caribbean, Puerto Rican, Lebanese Christian, Iranian Jewish and Gujarati ancestry. The analysis uncovered 1,218 significant associations between disease diagnoses and clusters and 124 significant associations with specialty visits.
Spending on Phased Clinical Development of Approved Drugs by the US National Institutes of Health Compared With Industry Study assesses NIH contribution to clinical development of new drugs
Single-cell spatial transcriptome reveals cell-type organization in the macaque cortex
Machine learning for cryosection pathology predicts the 2021 WHO classification of glioma Scientists have developed an artificial intelligence (AI) tool capable of deciphering a brain tumor’s genetic code in real time, during surgery.
Studying the genetics of participation using footprints left on the ascertained genotypes
A confinable female-lethal population suppression system in the malaria vector, Anopheles gambiae New CRISPR-based system could eliminate malaria-carrying mosquitoes
Oncogene-like addiction to aneuploidy in human cancers Cancer cells with extra chromosomes depend on those chromosomes for tumor growth and eliminating them prevents the cells from forming tumors. The study suggest that selectively targeting extra chromosomes may offer a new route for treating cancer
Genome-wide mapping of cancer dependency genes and genetic modifiers of chemotherapy in high-risk hepatoblastoma Pediatric hepatoblastoma model hints at DNA damage repair pathway for novel therapeutics
A biological camera that captures and stores images directly into DNA The study describes a new technique of capturing two-dimensional (2D) light patterns into deoxyribonucleic acid (DNA) and using high-throughput next-generation sequencing to retrieve recorded images
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder
Fecal microbiota transplantation plus anti-PD-1 immunotherapy in advanced melanoma: a phase I trial Fecal transplants show promise in improving melanoma treatment
Targeted Destruction of S100A4 Inhibits Metastasis of Triple Negative Breast Cancer Cells New compound shows promise in stopping breast cancer metastasis
Prediction of on-target and off-target activity of CRISPR–Cas13d guide RNAs using deep learning The study combines a deep learning model with CRISPR screens to control the expression of human genes in different ways – such as flicking a light switch to shut them off completely or by using a dimmer knob to partially turn down their activity. These precise gene controls could be used to develop new CRISPR-based therapies.

News for the month of June 2023

The biggest June news clearly centered around the resignation of Francis deSouza as CEO of Illumina after a proxy battle with Icahn. Him stepping down, marked a victory for the activist investor Carl Icahn and heightened expectations that this could lead to unwinding Illumina’s controversial $7.1 billion acquisition of Grail. Illumina has since begun a search for a new CEO and named Charles Dadswell, senior vice president and general counsel, as interim chief executive. DeSouza will stay on in an advisory capacity through July 31.

Other news for the month of June included Colossal Biosciences, the world’s first de-extinction company, being named to the third-annual TIME100 Most Influential Companies list, which recognizes 100 companies making an extra ordinary impact around the world; Illumina Ventures launching Illumina Ventures Labs building on the foundation of the Illumina Accelerator Program; the ACMG updating its guidance for reporting secondary findings in the context of clinical exome and genome sequencing (v3.2); and the invention of a new way to map specific DNA markings called 5-methylcytosine(5mC) which regulate gene expression and key role in health and disease. In addition, this technique allows for scientists to profile DNA using very small samples and this without compromising the sample which means it can potentially be used in liquid biopsy applications.

Funding / IPO

Mergers & Acquisitions

Precision Medicine

GeneDx Commends the States of Arizona and Florida for Adding Rapid Whole Genome Sequencing (rWGS) as a Covered Benefit for Medicaid Pediatric Patients

(Omics) Data Platform / Sequencing / Analysis / Instruments

Genomic/Genetic Testing / CDx / Liquid Biopsy

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) In the four-year Mayo Clinic study, researchers evaluated 1,152 patients with rare diseases, did genomic testing on 855 patients, and also evaluated the tested patients’ family members. The overall rate where they either determined or likely determined the cause of the disease was 17.5% and as high as 66.7%, depending on the phenotype (set of observable characteristics of a person resulting from the interaction of its genotype with the environment).
FDA approves FoundationOne Liquid CDx as companion diagnostic for Braftovi The combination therapy received approval for previously treated metastatic colorectal cancer (mCRC) patients with a BRAF V600E alteration. FoundationOne Liquid CDx becomes the first comprehensive genomic profiling test to be approved by the FDA to detect patients with BRAF V600E mutations in mCRC who may benefit from treatment with the combination therapy.
Dotmatics Acquires SoftGenetics Expanding Into Clinical and Forensic Genetic Analysis
Labcorp Plasma Focus™ Liquid Biopsy Test Now Available
BostonGene Announces the Launch of its CLIA-certified and CAP-accredited Liquid Biopsy, Immunoprofiling and Spatial Proteomics Solutions

Cell and Gene Therapy (CGT)

FDA Approves First Gene Therapy for DMD

RWE / RWD

Caris Life Sciences and ConcertAI Expand Partnership to Create First-in-Class, Prospectively Matched Clinico-Genomic Research Platform

Spatial Omics

Owkin Powers a New Era in Oncology Research with MOSAIC – An Unprecedented $50 Million Spatial Atlas of Cancer Cells

Genome Editing / CRISPR / Cas9

Artificial Intelligence / Machine Learning / Large Language Models

Analysis of 145 generative AI startups IDs ‘monumental’ opportunities to remedy pain points in healthcare and life sciences
Large Language Models (LLMs) in Molecular Biology Serafim Batzoglou describes in detail why LLMs are ideal for molecular biology
The AI-powered future of healthcare is ‘right now’: What CEOs think of AI
The latest generative AI efforts in healthcare: Carbon Health, Tempus launch tools for docs
Precision Cancer Consortium Teams Up with Massive Bio to Utilize AI Analytics and Enhance Clinical Trial Matching for Cancer Patients Worldwide MOSAIC (Multi Omic Spatial Atlas In Cancer) is a landmark $50 million project to revolutionize cancer research through the use of spatial omics, a set of cutting-edge technologies that offer unprecedented information on the structure of tumors.
Health system-scale language models are all-purpose prediction engines

Microbiome

Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles

Miscellaneous

Illumina begins layoffs in plan to cut more than $100M in expenses this year
FACT SHEET: Biden-⁠Harris Administration Announces New Action Plan to Bolster, Expand, and Diversify America’s Biotechnology and Biomanufacturing Workforce
Brace yourself for a wave of biotech layoffs
Personalis Files Second Patent Infringement Suit Against Foresight Diagnostics
Colossal Biosciences Named to TIME’s List of the TIME100 Most Influential Companies Colossal Biosciences (“Colossal”), the world’s first de-extinction company, has been named to the third-annual TIME100 Most Influential Companies list.
The Department of Health – Abu Dhabi, Mass General Brigham, and International Center for Genetic Disease sign Declaration of Collaboration to Advance Life Sciences Research The agreement signed is intended to advance life sciences across three strategic pillars including clinical and translational research, capacity building and technology transfer and commercialisation. Leveraging the Emirate’s advanced genomics capabilities, the agreement seeks to expand research into the domain of genomic medicine and prioritised global genetic diseases in areas such as rare diseases, oncology, neurology, as well as cardiovascular and metabolic diseases. The collaboration aims to enhance access to innovative solutions and treatments for patients in the United Arab Emirates (UAE) and beyond.
Illumina Ventures to Launch Illumina® Ventures Labs
Francis deSouza’s tenure at Illumina is a lesson in how not to handle CEO succession
Illumina CEO deSouza resigns after proxy battle with Icahn CEO Francis deSouza stepped down on Sunday, marking a victory for activist investor Carl Icahn and heightening expectations that it could unwind its controversial $7.1 billion acquisition of Grail.
The Caris Precision Oncology Alliance Welcomes SWOG Cancer Research Network
Apple unveils watchOS 10 with new features for mental health, vision health
Billions is spent on cancer research globally – but is it money well spent?
Invivoscribe Partners with Complete Genomics to Develop and Commercialize Biomarker Tests for Oncology and Cancer Research

Publications

Fanzor is a eukaryotic programmable RNA-guided endonuclease
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies Researchers took the genotypes of 219 patients with ALS and 223 healthy individuals without ALS, and they constructed the polygenic scores from a genome-wide association study of more than 80,000 people.
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency Researchers analyzed genetic data from more than 104,733 women in UK Biobank.
Subclinical atherosclerosis and accelerated epigenetic age mediated by inflammation: a multi-omics study
Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) In the four-year Mayo Clinic study, researchers evaluated 1,152 patients with rare diseases, did genomic testing on 855 patients, and also evaluated the tested patients’ family members. The overall rate where they either determined or likely determined the cause of the disease was 17.5% and as high as 66.7%, depending on the phenotype (set of observable characteristics of a person resulting from the interaction of its genotype with the environment).
Gut microbiome composition may be an indicator of preclinical Alzheimer’s disease
Multiplex-GAM: genome-wide identification of chromatin contacts yields insights overlooked by Hi-C Using this technique, the team created a map of the three-dimensional interactions. Compared with existing 3D maps of the genome created using Hi-C, they found many novel, more complex interactions.
Single-cell CRISPR screen for GWAS loci
Folding Double-Stranded DNA into Designed Shapes wit h Triplex-Forming Oligonucleotides
In vivo bone marrow microenvironment siRNA delivery using lipid–polymer nanoparticles for multiple myeloma therapy
Direct enzymatic sequencing of 5-methylcytosine at single-base resolution New, precise, and efficient DNA sequencing method may lead to easier testing and earlier cancer detection
Systematic characterization of regulatory variants of blood pressure genes The study, which reviewed more than 4,600 genetic variants represents one of the largest endeavors to date investigating and assigning function to the non-coding genome.
Identification of BRCA1/2 mutation female carriers using circulating microRNA profiles Researchers from Dana-Farber Cancer Institute, Brigham and Women’s Hospital, and Medical University of Lodz have found a way to detect increased cancer risk associated with BRCA1 and BRCA2 mutations without genetic sequencing. The assessment isn’t based on the presence of BRCA1/2 gene mutations. Rather, it’s based on functional changes that occur when the pathway those and other genes regulate is not working properly.
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Researchers link death in gene-editing study to a virus used to deliver the treatment, not CRISPR
150 risk variants for diverticula r disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility A genome-wide association study of more than 700,000 people showed DivD is highly heritable with 150 genetic factors linked to the risk of getting the disease.

News for the month of May 2023

Since ChatGPT broke into the world in November of last year it has captured everybody’s attention with both OpenAI’s ChatGPT and Microsoft’s Azure OpenAI services being now available to the public. During the month of May it got very prevalent in the healthcare scene that teach leaders are being eager to adopt the technology sooner than later. As such, we see many companies now integrating ChatGPT into their offerings, and for example, Epic going all in on generative AI and is working with Microsoft to integrate large language model tools and AI into its electronic health record software. While the FDA commissioner Robert Califf sees that large language models (LLMs), such as ChatGPT, will result in important applications that will improve healthcare, Califf suggested that the regulation of ChatGPT-like models is critical to avoid being‘swept up quickly’ by tech and with that OpenAI CEO, Sam Altman, faced questions about Artificial Intelligence at a hearing in the U.S. Senate.

Additional news for the month of May included Genome Insight announcing the U.S. launch of CancerVision, their whole genome sequencing (WGS) test, in conjunction with the opening of their corporate headquarter located in San Diego, CA; DNAnexus announcing that its core platform and Cohort Browser are now optimized for accessing and analyzing large-scale proteomics data, and PerkinElmer is rebranding its diagnostics, life sciences business as Revvity.

Funding / IPO

Mergers & Acquisitions

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Genomic/Genetic Testing / CDx / Liquid Biopsy

Genome Editing / CRISPR / Cas9

Has the CRISPR revolution arrived yet? An interview with Greg Licholai, a biotech entrepreneur and a lecturer at Yale SOM, about the state of the technology.

Artificial Intelligence / Machine Learning

Miscellaneous

To become an Amazon Clinic patient, first you sign away some privacy The ‘HIPAA authorization’ for Amazon’s new low-cost clinic offers the tech giant more control over your health data
Amazon’s One Medical partners with Rightway to expand primary care access
Omicsedge forms strategic partnership with almaden genomics to streamline drug discovery
Colossal Biosciences and the Vertebrate Genomes Project Publish the First Near Complete African Elephant Chromosome Level Genome
Corporate Giants Buy Up Primary Care Practices at Rapid Pace Large health insurers and other companies are especially keen on doctors’ groups that care for patients in private Medicare plans.
Post-spinoff, PerkinElmer rebrands diagnostics, life sciences business as Revvity
The Scientist Turned Biotech Empresario Who Changed How We Look At Gene Editing A Forbes article about Harvard University Professor David Liu, Ph.D. His newest company, Nvelop Therapeutics, joins Liu’s impressive list of nine others, each of which has exemplified the vast applications of gene editing. From addressing drug targets previously thought inaccessible to engineering healthier food choices for combating the obesity crisis, Liu’s work is pushing the limits of what is possible in biotechnology.
Thermo Fisher Scientific & Pfizer Partner to Expand Localized Access to Next-Generation Sequencing-Based Testing for Cancer Patients in International Markets
23andMe Releases New Report Revealing Likelihood of Developing Lupus
Charles River Laboratories Launches Next Generation Sequencing Services for Bacterial Identification and Fungal ID

Microbiome

COVID-19 / SARS-CoV-2

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 Study describes the results of genomic research coupled with meta-analyses of other studies of patients with severe-to-critical COVID-19 – highlights genetic risk and potential treatments.
Single-cycle SARS-CoV-2 vaccine elicits high protection and sterilizing immunity in hamsters Describes a new vaccine concept that could lead to a new generation of vaccines against SARS-CoV-2

Publications

Transfer learning enables predictions in network biology
Alzheimer’s disease drug development pipeline: 2023 A review article
RNA alternative splicing impacts the risk for alcohol use disorder Study provides evidence that RNA alternative splicing impacts the susceptibility to AUD and adds new information on AUD-relevant genes and pathways
Identifying subtypes of heart failure from three electronic health record sources with machine learning: an external, prognostic, and genetic validation study
The genetics of autism spectrum disorder in an East African familial cohort
Recommendations for Next-Generation Sequencing Germline Variant Confirmation A Joint Report (evidence-based recommendations for next-generation sequencing germline variant confirmation) of the Association for Molecular Pathology and National Society of Genetic Counselors Evidence-based recommendations for next-generation sequencing germline variant confirmation
Centenarians have a diverse gut virome with the potential to modulate metabolism and promote healthy lifespan
Functional variants identify sex-specific genes and pathways in Alzheimer’s Disease Machine-learning program reveals genes responsible for sex-specific differences in Alzheimer’s disease progression
Hybrid allele-specific ChIP-seq analysis identifies variation in brassinosteroid-responsive transcription factor binding linked to traits in maize Demonstrates how newly developed method can help identify the special differences in genetic information
Region Capture Micro-C reveals coalescence of enhancers and promoters into nested microcompartments Much of the human genome is made of regulatory regions that control which genes are expressed at a given time within a cell. Those regulatory elements can be located near a target gene or up to 2 million base pairs away from the target. To enable those interactions, the genome loops itself in a 3D structure that brings distant regions close together. Using a new technique, MIT researchers have shown that they can map these interactions with 100 times higher resolution than has previously been possible.
A draft human pangenome reference Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available. The work was led by the international Human Pangenome Reference Consortium, a group funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.
Profiling the human intestinal environment under physiological conditions The study describes additional spatiotemporal profiling of the gut metabolome using CapScan (an Envivo product), including differences in dietary and lipid compounds. The study findings demonstrate feasibility and utility of using CapScan to collect, characterize, and quantify the intestinal microbiota, metabolome, host proteins, and bile acids along the human intestine.
The Clinicogenomic Landscape of Induction Failure in Childhood and Young Adult T-Cell Acute Lymphoblastic Leukemia The study combined U.K. trial data from 2003–2019 to see which childhood leukemia patients are at higher risk of not responding well to chemotherapy. They then used whole genome sequencing to look for genetic clues that could be used to predict this risk in future patients.
γδ-Enriched CAR-T cell therapy for bone metastatic castrate-resistant prostate cancer Demonstrates that chimeric antigen receptor T-cell (CAR T) therapy is an effective antitumor approach in mouse models of bone metastatic prostate cancer
An African-specific variant of TP53 reveals PADI4 as a regulator of p53-mediated tumor suppression
Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens New approach addresses the challenge of directly connecting genetic variants to human traits, health
CRISPR editing of CCR5 and HIV-1 facilitates viral elimination in antiretroviral drug-suppressed virus-infected humanized mice

News for the month of April 2023

Major news for the month of April included Kaiser Permanente announcing that they will acquire Geisinger Health to develop a new company that would operate nonprofit community health systems, the Broad Institute together with Fabric Genomics launching a $1K Sample-to-Report Clinical Whole-Genome Sequencing Service, and a team of Broad Institute, MIT, and Harvard researchers publishing an improved DNA sequencing method that results in 1000-fold higher accuracy to detect rare genetic mutations.

Additional major news centered around AI and ChatGPT systems with Amazon striking a partnership with 3M to advance conversational AI in medicine, Microsoft and Epic planning to bring AI into electronic health records, ChatGPT being potentially helpful for breast cancer screening advice with certain caveats, PathAI announcing PathExplore, an AI-powered Pathology Panel to unlock untapped insights from the Tumor Microenvironment, and OpenAI closing a $300 million funding round at $27billion-$29 billion valuation.

Funding / IPO

Genomic / Genetic Testing / CDx / Liquid Biopsy

Agilent Announces NGS Assay for Comprehensive Genomic Profiling (CGP) for Advancing Precision Oncology This new bioinformatics solution combines artificial intelligence, machine learning, and functional testing to elevate precision cancer treatment

Precision Medicine

(Genomics) Data Platform / Sequencing / Analysis / Instruments

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity A team of researchers at the Broad Institute of MIT and Harvard has developed a new approach to next-generation sequencing that detects genetic mutations within single molecules of DNA. This new method improves accuracy of DNA sequencing 1,000-fold to detect rare genetic mutations
Integrated DNA Technologies Launches New Archer™ FUSIONPlex™ Core Solid Tumor Panel for Cancer Research
Phase Genomics Collaborates with Element Biosciences to Optimize Cytogenomics for Liquid and Solid Tumor Samples
Biomodal Launches Solution To Simultaneously Sequence Genetics And Epigenetics In One Workflow Biomodal (formerly known as Cambridge Epigenetix) commercially launches its new duet multiomics solution, combines genetic and epigenetic information from a single low volume sample
Illumina, Henry Ford Health Partner on Genomic Testing for Cardiovascular Patients
Pillar Biosciences and KeyGene Enter into Licensing Agreement
Illumina’s cloud-based informatics programs recognized for robust, international data privacy protections Illumina receives ISO/IEC 27701 certification for six of its cloud-based informatics programs, including BaseSpace Sequence Hub, Clarity LIMS, Correlation Engine, Illumina Connected Analytics, TruSight Software, and BaseSpace Variant Interpreter

Genome Editing, CRISPR / Cas9

Artificial Intelligence / Machine Learning

Amazon strikes partnership with 3M to advance conversational AI in medicine
Microsoft and Epic are bringing AI into electronic health records Microsoft and Epic say the use of AI in Epic’s electronic health records will boost productivity and improve patient care
ChatGPT helpful for breast cancer screening advice with certain caveats, new study finds
PathAI Announces PathExplore, an AI-powered Pathology Panel to Unlock Untapped Insights from the Tumor Microenvironment

Miscellaneous

ONTOFORCE and ZS partner to offer an optimized end-to-end service for early drug research and development
Vowst Becomes First FDA-Approved Fecal Microbiota Pill
Dante Genomics receives grant for a whole genome sequencing project to measure utility of pharmacogenomics in a real, clinical setting
M2GEN Rebrands to Aster Insights
NIH’s Genome Chief Says Genomics Is Evolving and Docs Need More Education on It An interview with Eric Green, director of the NHGRI to discuss his career, the latest advances in genomics, and his hopes for the future of his chosen field.
Sensible Biotechnologies Announces Partnership with Ginkgo Bioworks to Develop Novel mRNA Manufacturing Platform

Publications

Artificial Intelligence in Pharmaceutical Sciences
The cost-effectiveness of whol e genome sequencing in neurodevelopmental disorders
Efficient engineering of human and mouse primary cells using peptide-assisted genome editing New, improved gene editing method could power the next generation of cell and gene therapies
A genomic timescale for placental mammal evolution Researchers use genomes of 241 species to redefine mammalian tree of life
Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity
Universal structures for adaptation in biochemical reaction networks Study uncovers a universal molecular-level explanation for biological homeostasis and adaptation
Single-cell individual full-length mtDNA sequencing by iMiGseq uncovers unexpected heteroplasmy shifts in mtDNA editing
Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci
Chromosomal fragile site breakage by EBV-encoded EBNA1 at clustered repeats Shows how the EBV virus exploits genomic weaknesses to cause cancer
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland Genomic analysis can lead to a diagnosis in a substantial proportion of children with rare, undiagnosed diseases, according to results from the Deciphering Developmental Disorders study. Of 13,449 kids included in the multicenter study conducted in the U.K. and Ireland, 41% received a diagnosis using exome sequencing and microarray analyses
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis Researchers at Vanderbilt University Medical Center have determined a new way to measure the growth rate of precancerous clones of blood stem cells that one day could help doctors lower their patients’ risk of blood cancer. The technique, called PACER, led to the identification of a gene that, when activated, drives clonal expansion.
Combinatorial design of nanoparticles for pulmonary mRNA delivery and genome editing Researchers have designed a new type of nanoparticle that can be administered to the lungs, where it can deliver messenger RNA encoding useful proteins. With further development, these particles could offer an inhalable treatment for cystic fibrosis and other diseases of the lung,
Analysis of the fecal metagenome in long-term survivors of pancreas cancer

News for the month of March 2023

March was overshadowed by the second biggest bank collapse in U.S. history – the Silicon Valley Bank was shut down by regulators. The company’s downward spiral accelerated when it surprised investors with news that it needed to raise $2.25 billion to shore up its balance sheet. The Silicon Valley Bank, a 40-year-old institution, had been one of the most prominent lenders in the world of technology startups. The U.S. Treasury, the Federal Reserve and the Federal Deposit Insurance Corp. said the government would back Silicon Valley Bank deposits beyond the federally insured ceiling of $250,000. The decision addressed concerns around the fate of uninsured funds held at the Santa Clara, California-based bank which had $209 billion in assets and more than $175 billion in deposits..

Additional news included CVS Health finally put the rumors to rest by announcing a definitive agreement to purchase Medicare-focused primary care provider Oak Street Health in an all-cash deal valued at $10.6 billion, Invitae announcing a partnership with Epic to streamline interactions with provider organizations in the Epic community, making test result information available in providers’ usual workflows so that it’s easier to use genetic insights to inform treatment decisions, Illumina launching new software to enable tertiary analysis for oncology applications, and soon rare disease and its first product enabling long-read and short-read sequencing on one instrument, and Front Line Genomics releasing their 5 edition of The Sequencing Buyer’s Guide “From sample preparation workflows and new platform releases to single-cell analysis options and data analysis tools”. Lastly, the genomic analyses of eight locks of hair attributed to Ludwig van Beethoven shed light on his chronic health problems and cause of death – Beethoven had a predisposition for liver disease and became infected with hepatitis B.

Funding / IPO

Genialis Raises $13M to Build Clinical Biomarkers that Predict Patient Response
Swiss Company Lunaphore Raises CHF 40M in the First Close of Series D Funding The company plans to use the funding to strengthen its growing portfolio offering in spatial biology as well as support commercial execution to address ever-growing demand from customers
Artera Launches with $90 Million in Funding to Personalize Cancer Therapy With Multimodal AI
Pragma Bio Secures $10M To Expand Its Proprietary Technology Platform To Discover Novel Medicines Pragma Bio plans to continue the development of proprietary methods in genomic sequencing, artificial intelligence and synthetic biology to discover biomarkers and novel therapeutics to treat immunologic disorders
Perspectum, a precision health company which develops medical imaging tools to improve the diagnoses of metabolic diseases and cancer, has completed the second close of its $55 million Series C funding round
Chroma Medicine Secures $135M in Series B Financing to Advance Breakthrough Epigenetic Editing Technology and Expand Pipeline of Durable Precision Genomic Medicines

Mergers & Acquisitions

Genomic/Genetic Testing/CDx/Liquid Biopsy

(Genomics) Data Platform / Sequencing / Analysis / Instruments

TileDB Launches Cross-Language Access to Single-Cell Data
World TB Day 2023: Illumina and GenoScreen Launch Next Generation Sequencing Innovation to Eliminate Tuberculosis in Africa
Illumina launches new software to enable tertiary analysis for oncology applications, and soon rare disease Illumina releases Connected Insights, a new cloud-based software enabling tertiary analysis for clinical next-generation sequencing (NGS) data.
PacBio and Corteva Agriscience Enable Plant and Microbial Long-Read Sequencing Workflow on Revio System
PacBio Announces a New Informatics Analysis Method for Highly Homologous Genes
SOPHiA GENETICS and Agilent Partner on Comprehensive Solution for Cancer Analysis
New Single-Cell Genome, Transcriptome Sequencing Technique Delivers Better Bang For Buck
Illumina launches its first product enabling long- and short-read sequencing on one instrument
Illumina and Myriad Genetics expand partnership to broaden access to HRD testing in the United States
Dante Genomics launches Avanti Software for a plug-and-play genomic interpretation that takes minutes instead of hours
The Sequencing Buyer’s Guide: 5th Edition A Front Line Genomics Report “From sample preparation workflows and new platform releases to single-cell analysis options and data analysis tools”
QIAGEN and SOPHiA GENETICS Forge Partnership to Combine Strengths in Next-Generation Sequencing

Artificial Intelligence / Machine Learning

Miscellaneous

Podcast People of Precision Health Debuts to Explore How Leaders in Precision Health Research are Using Digital Methods and Tools to Successfully Build and Engage Human Cohorts
Digital health CEOs look back with wisdom and ahead with measured optimism Rock Health hosted the 11th annual Digital Health CEO Summit in San Francisco, where they gathered with 120 leading digital health CEOs and founders. They convened for a day full of reflective discussions, shared learnings, and experiences to connect with old and new friends across the industry. This is their summary.
Thermo Fisher Scientific Opens Cell Therapy Facility at University of California, San Francisco, to Accelerate Development of Breakthrough Therapies The partnership between Thermo Fisher and UCSF, first announced in 2021, has the potential to demonstrate that having scientists, clinicians, and patients closer to a manufacturing site may expedite the development of breakthrough treatments.
Biocom California Statement on Illumina’s Proposed Acquisition of GRAIL Biocom California, the association representing the life science industry of California, issued a statement regarding their application to intervene in support of Illumina’s challenge to the European Commission’s jurisdiction over the acquisition of GRAIL
Illumina Underscores Commitment to Shareholder Value and Responds to Carl Icahn’s Statements
Oxford Nanopore and PathoQuest announce the first steps in a strategic collaboration to bring the first GMP-accredited, nanopore-based biologics genetic characterisation test to market
Caris Life Sciences and Incyte Enter Into Broad Precision Medicine Partnership to Advance Incyte’s Oncology Pipeline
German scientists develop a dashboard to ensure transparency for clinical trials Scientists at the BIH QUEST Center have developed a publicly accessible dashboard that displays how 35 German universities fare in terms of transparency of the clinical trials they have conducted. A total of some 3,000 clinical trials were evaluated for this purpose.
A cartography of human histology is in the making It will identify and locate every type of cell in the human body

Silicon Valley Bank

Silicon Valley Bank has a new owner. What it means for the bank crisis
FDIC Creates a Deposit Insurance National Bank of Santa Clara to Protect Insured Depositors of Silicon Valley Bank, Santa Clara, California
Silicon Valley Bank failure could wipe out ‘a whole generation of startups
Silicon Valley Bank Fails After Run on Deposits One of the most prominent lenders in the world of technology start-ups, struggling under the weight of ill-fated decisions and panicked customers, collapsed on Friday, forcing the federal government to step in. The move put nearly $175 billion in customer deposits under the regulator’s control. A NY Times article.
Here’s how the second-biggest bank collapse in U.S. history happened in just 48 hours
Silicon Valley Bank is shut down by regulators in biggest bank failure since global financial crisis

COVID-19 / SARS-CoV-2

COVID-origins report sparks debate over major genome hub GISAID GISAID revoked researchers’ access following the report, sparking discussion about findings based on data found in online repositories.
COVID-origins study links raccoon dogs to Wuhan market: what scientists think Raccoon dogs, bamboo rats, palm civets: these are just some of the animals whose DNA has been found in swabs taken from the Huanan Seafood Wholesale Market in Wuhan, China, which has been linked to the origin of the COVID-19 pandemic. The swabs also tested positive for SARS-CoV-2, which causes the disease. The analysis — posted on 20 March to the research repository Zenodo — possibly provides evidence supporting the hypothesis that SARS-CoV-2 spilled over from animals to humans at the market, say some researchers.

Publications

Spatial multiomics map of trophoblast development in early pregnancy
An atlas of genetic scores to predict multi-omic traits Genetic scores for predicting levels of several types of biomolecule have been developed and validated in people of diverse ancestries, and used to uncover insights into disease biology. An open resource to disseminate these scores, OmicsPred, will enable researchers to predict various molecular traits from genetic profiles in their own data sets.
Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients
Genomic analyses of hair from Ludwig van Beethoven sheds light on chronic health problems and cause of death
Genetic analyses identify brain structures related to cognitive impairment associated with elevated blood pressure
Application of metagenomic next-generation sequencing in bloodstream infection regarding immunosuppression mNGS outperforms microbiological tests to diagnose bloodstream infections
Monocyte-derived macrophages contain persistent latent HIV reservoirs HIV genomes that hide in white blood cells offer new target to eliminate infections
Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association
Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures
Palmitoylation of the Parkinson’s disease–associated protein synaptotagmin-11 links its turnover to α-synuclein homeostasis
YBX1-interacting small RNAs and RUNX2 can be blocked in primary bone cancer using CADD522
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk New genetic associations found for COPD in the largest study of its kind – the study, which included 580,869 participants, identified 1,020 independent disease association signals and implicated 559 genes from a variant-to-gene mapping framework
Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders The study’s findings are drawn from an analysis of genomic data from more than 1.1 million people of mostly European ancestry and a smaller population of people of African ancestry
Decreased viral infection severity in females may be due to extra copy of X chromosome-linked gene
Engineering epigenetic inheritance
Discovery of Targets for Immune–Metabolic Antitumor Drugs Identifies Estrogen-Related Receptor Alpha

News for the month of February 2023

Funding & IPO

GE HealthCare agrees to buy AI imaging firm Caption Health in second acquisition GE HealthCare plans to pair its ultrasound machines with Caption’s applications for early disease detection.
Will it? Won’t It? CVS Health To Finally Acquire Oak Street Health for $10.6B – The full Investor presentation: Creating the Premier Medicare Value-Based Platform

Precision / Genomic Medicine

Precision Medicine: Are We Seeing More Rigorous Papers, With More Reasonable Claims?
SOPHiA GENETICS Expands Partnership With AstraZeneca to Include Multimodal Approaches for Cancer Drug Development The expanded partnership aims to leverage the global SOPHiA DDM™ platform and multimodal algorithmic capabilities to lead a new era of precision oncology by improving early patient identification and diagnosis, optimizing clinical development, and accelerating adoption of innovative medications along the care pathwa
How many babies die from genetic diseases because they’re not tested? Too many, researchers say Rady Children’s Institute for Genomic Medicine (RCIGM) researchers found that the contribution of genetic diseases to infant deaths was higher than previously recognized. Of 112 infant deaths evaluated, single-locus (Mendelian) genetic diseases were found to be the most common antecedent of infant mortality and associated with 41% of the deaths – Article in JAMA Network Open: Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
Ireland Outlines National Strategy to Streamline Access to Genomic Medicine

(Genomics) Data Platform / Analysis / Instruments

Element to Present Data and Innovation Roadmap at AGBT As per their press release: With its new Cloudbreak chemistry coming in April, Element is accelerating the power of sequencing with 20 percent faster runs and a simplified workflow with Elevate linear libraries, all with superior accuracy at the industry’s lowest cost. Element provides the highest quality sequencing on a benchtop for as low as $200 a genome, or $2 per gigabase.

(Genomics) Data Platform / Analysis / Instruments

Illumina delivers first NovaSeq X Plus sequencer to the Broad Institute
Tecan collaborates with Singular Genomics to take automated NGS library preparation into the future (AGBT)
Tecan collaborates with Element Biosciences to provide benchtop NGS (AGBT)
Complete Genomics Drops Genome Sequencing Price to Sub $100 at AGBT General Meeting (AGBT) The new instrument represents a T-series product evolution designed for large population genome projects. Using an open-type large sequencing slide cut from a whole silicon wafer, one DNBSEQ-T20×2 supports the operation of 6 slides simultaneously, producing up to 42Tb per run with PE100 or even 72Tb per run with PE150 in a smaller footprint than DNBSEQ-T10×4*.
Arima Genomics and Velsera Announce Partnership to Enable Broad Adoption of Arima Gene Fusion Test in Clinical Laboratories

Artificial Intelligence / Machine Learning

Predicting physician departure with machine learning on EHR use patterns: A longitudinal cohort from a large multi-specialty ambulatory practice Machine learning model predicts physician turnover

RWE / RWD

Veradigm and HealthVerity Collaborate to Advance Real-World Evidence and Care for Patients with Cardiovascular Disease and Diabetes

Miscellaneous

Layoffs and Shutdowns Hit Biotech Industry in U-Turn After years of easy money and heady growth, funding is slim and stocks are down
Roche expands collaboration with Janssen to advance personalized healthcare through companion diagnostics
Eurofins Genomics US Launches Express Oxford Nanopore Sequencing Service with Same-Day Results
Data interoperability at the federal level requires cross-sector collaboratio n During a panel discussion at Digital Frontiers in Public Health, panelists discussed how the public and private sectors can work together to share data and improve public health.
GoodRx Leaked User Health Data to Facebook and Google, F.T.C. Says The popular drug discount app deceptively shared details on users’ illnesses and medicines with ad firms, regulators said in a legal complaint.

COVID-19 / SARS-CoV-2

Biden’s plan for ending the emergency declaration for COVID-19 signals a pivotal point in the pandemic – 4 questions answered
Genetics might explain why some people have never had COVID – but we shouldn’t be too focused on finding out
White House plans to end COVID emergency declarations May 11 An average of more than 500 people in the U.S. are still dying from COVID-19 each day, about twice the number of deaths per day during a bad flu season.
The NIH-led research response to COVID-19 Outlines key milestones and crucial lessons learned, with the goal of informing and guiding the research community’s response to future pandemics.

Publications

News for the month of January 2023

January started off with the 41st edition of the annual JP Morgan Healthcare conference which typically provides a rich source of news across the healthcare sector, including updates on mergers and acquisitions. This year we learned about the formation of Velsera as a result of combining Seven Bridges with PierianDx and Urgentec. Velsera’s goal is to create a software platform out of science, technology, and informatics, making data actionable, accelerating the pace and including the potential of multi-omics. A more detailed summary of newsworthy activities in the various therapeutic areas can be found in Insights and Key Takeaways of the JP Morgan Healthcare Conference.

Another not too surprising highlight included Nature Methods calling long-read sequencing the Method of the year 2022, this after the success of the Telomere-to-Telomere (T2T) Consortium presenting the first ever complete human genome using long-read sequencing. The two most widely used commercial technologies are Pacific Biosciences’ Single Molecule Real-Time (SMRT) sequencing (average read length ~20 kb with >99.9% accuracy for HiFi reads) and Oxford Nanopore Technologies’ nanopore sequencing (average read length ~100 kb for ultra-long reads, ~99% accuracy for R10.4).

Additional news included Alphabet’s Verily announcing layoffs amid strategic restructuring, Sema4 Announcing name change to GeneDx, and the launch of the clinical trial company Paradigm with $203M in funding to build a clinical research platform for provider and pharma customers.

Funding & IPO

Levels Secures $7M Series A Extension Funding
Teal unwraps $8.8M to build out a telehealth platform for women — starting with cervical cancer screening
Clinical trial tech company Paradigm launches with $203M in funding Paradigm will use the money to build a clinical research platform for provider and biopharmaceutical customers.
Atomic AI Launches with $35 Million Series A Financing to Advance AI-driven RNA Structure Platform for Treating Undruggable Diseases
Eagle Genomics’ Scale-Up Funding from OMRON Ventures to Drive Sustainability Innovation in Microbiome R&D The funds will support the ongoing development of Eagle Genomics’ e[datascientist]^™ platform as well as continued global expansion and increased client impact
Perspectum Completes $36 Million First Close of Series C
LinusBio Raises $16 Million to Scale Growth and Deliver Tangible Outcomes
BIOHM Raises $7.5 Million to Accelerate Microbiome Research, Artificial Intelligence Capabilities and Product Development
CRISPR QC Closes Seed Round at $1.6M to Fuel Commercial Growth of Their CRISPR Analytics Platform
Nest Genomics Raises $8.5M in Seed Funding to Increase Access to Patients’ Genetic Information Nest Genomics provides the software infrastructure needed for health systems, clinics, drugmakers and payers to launch and scale genomic programs
Agilent Investing $725 Million to Expand State-of-the-Art Manufacturing Capacity for Production of Nucleic Acid-Based Therapeutics

Mergers & Acquisitions

Precision Medicine

Accelerating cancer omics and precision oncology in health care and research: a Lancet Oncology Commission
UK landmark genomic partnership with Thailand to unite against health threats UK signs memorandum of understanding with Thailand to boost genomics expertise and explore mutual priorities for improving patient outcomes.
The human genome needs updating. But how do we make it fair? Healthcare’s standard genome is mostly based on one American. As we enter the era of personalised medicine, this bias has drawbacks for much of the world’s population
All of Us Seeks Proposals to Support Future Participant Experience The All of Us Research Program is looking for innovative solutions that will amplify the strengths of the program, provide the next generation of their platform to evolve their capabilities, and meet the needs of their program partners and participants.
BC Platforms Selected as Partner to Deliver key Singapore Population Health Study

(Genomics) Data Platform / Analysis / Instruments

Method of the Year 2022: long-read sequencing Nature Methods calls long-read sequencing the Method of the year 2022 and this on the heel of the success of the Telomere-to-Telomere (T2T) Consortium which presented the first complete human genome. This achievement was made possible by a wide range of experimental and computational efforts. Among them was long-read sequencing, the main sequencing technology responsible for generating the T2T data, which arguably laid the foundation of this feat.
Complete Genomics Launches Full Sequencing Platforms at Biotech Showcase™ 2023 at JP Morgan 2023
Element Delivers $200 Genome on AVITI™ Benchtop Sequencing System, or $2 per gigabase. For single cell sequencing, the new model offers potential costs as low as $0.60 per million reads, with sequencing runs finishing in less than 24 hours

Genomic/Genetic Testing/CDx/Liquid Biopsy

Guardant Health introduces Guardant Galaxy^TM suite of advanced AI analytics to enhance its portfolio of cancer tests and accelerate biomarker discovery
50% Not Tested: Precision Oncology with Jerome Madison, Invitae A Mendelspod podcast with Jerome Madison (General Manager of Oncology at Invitae) discussing Invitae’s approach to addressing the opportunities and challenges of cancer genetic testing.
QIAGEN and Helix Launch Exclusive Partnership to Advance Next-Generation Sequencing Companion Diagnostics in Hereditary Diseases

CRISPR / Cas9

Crispr Wants to Feed the World The power to fight human diseases put genome editing on the map. But similar technology could help crops withstand the stress of climate change.

Artificial Intelligence / Machine Learning

A.I. Turns Its Artistry to Creating New Human Proteins Inspired by digital art generators like DALL-E, biologists are building artificial intelligences that can fight cancer, flu and Covid.
Top Artificial Intelligence Companies In Healthcare To Keep An Eye On Includes Google Health/DeepMind, Augmedix, CloudMedX Health, Babylon Health, Enlitic, Arterys, Atomwise, Recursion Pharmaceuticls, iCarbonX, and Deep Genomics.
Microsoft is making a strategic investment in Paige, which is leveraging AI for cancer diagnostics and treatment Paige will also use Microsoft Azure as its cloud provider for the Paige Platform.
Google Research and DeepMind develop AI medical chatbot with a large language model for the medical community, which could generate safe and helpful answers using datasets covering professional medical exams, research and consumer queries.

Miscellaneous

Former Oracle exec Troy Tazbaz tapped as FDA director of digital health
Amazon Launches $5 A Month Prescription Drug Scheme As It Leaps Further Into Healthcare RxPass will allow U.S. Prime members to fill as many prescriptions as they need from a list of more than 50 generic medications and have them delivered free of charge.
ASHG releases report: Facing our History – Building an Equitable Future Initiative This report is the product of a major year-long initiative to acknowledge and reckon with past injustice, as well as progress toward justice, within the American Society of Human Genetics (ASHG) and the broader human genetics field. The Society for its involvement in and silence on the misuse of human genetics research to justify and contribute to injustices in all forms. It commits to sustain and expand its integration of equitable and just principles in the study and use of human genetics research, taking both immediate actions and swiftly determining longer-term goals it will set to realize the benefits of human genetics and genomics research for all.
Alphabet’s Verily announces layoffs amid strategic restructuring The layoffs will help Verily refine its strategy, prioritize its product portfolio and simplify its operating model.
UCSF Health received fewer patient portal messages after letting clinicians choose when to charge
Pfizer pivots from early-stage rare disease R&D, shifting to external innovation and putting assets up for sale
Genomic Medicine Translational Protocols – What Do They Mean for Patients Everywhere?
What the FDA’s accelerated approval of a new Alzheimer’s drug could mean for those with the disease – 5 questions answered about lecanemab Potentially Iecanemab could be a game changer for people with early-stage Alzheimer’s disease, as the medication has the potential to interfere with the progression of Alzheimer’s disease by removing beta-amyloid from the brains of people who are suffering with it
Sema4 Announces Name Change to GeneDx and Provides Preliminary 2022 Financial Results and 2023 Guidance
Digging Deep to Release the Power of the Proteome
CVS Health Makes Waves During JPM: Experts Weigh In CVS Health announced investments this week in Carbon Health, Monogram Health and Array Behavioral Care. There have also been rumors that the company is exploring a $10 billion deal with primary care company Oak Street Health.

Cancer Vaccines

Moderna’s experimental cancer vaccine treats but doesn’t prevent melanoma—a biochemist explains how it works

COVID-19 / SARS-CoV-2

Pfizer eyes big drop in COVID-related revenues in 2023

Publications

Multidimensional endotyping using nasal proteomics predicts molecular phenotypes in the asthmatic airways
Structure of the Inmazeb cocktail and resistance to Ebola virus escape
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
FinnGen provides genetic insights from a well-phenotyped isolated population 30 new associations were identified, primarily low-frequency variants, enriched in the Finnish population.
Beyond Mendel: Study sheds new light on well-established theories of genetic inheritanceA large-scale biobank-based study performed in Finland has discovered several new disease genes as well as new insights on how known genetic factors affect disease. The study highlights an underappreciated complexity in the dosage effects of genetic variants. – a Nature article
Are we prepared to deliver gene-targeted therapies for rare diseases? The article considers practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments.
Genotype first: Clinical genomics research through a reverse phenotyping approach
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Simultaneous identification of viruses and viral variants with programmable DNA nanobait The test uses DNA ‘nanobait’ to detect the most common respiratory viruses – including influenza, rhinovirus, RSV and COVID-19 – at the same time. In comparison, PCR (polymerase chain reaction) tests, while highly specific and highly accurate, can only test for a single virus at a time and take several hours to return a result
Loss of epigenetic information as a cause of mammalian aging
Anatomically interpretable deep learning of brain age captures domain-specific cognitive impairment AI-powered analysis accurately risk of cognitive decline and Alzheimer’s disease

Following are archived industry news

COVID-19 / SARS-CoV-2

Collated COVID-19/SARS-CoV-2 Information

Industry News – 2023

News for the month of December 2023

Funding & IPOs

Mergers & Acquisitions

Precision Medicine

Cell & Gene Therapy (CGT)

(Omics) Data Platform / Sequencing / Analysis / Instruments

Genome Editing / CRISPR / Cas9

Artificial Intelligence / Machine Learning

Miscellaneous

Publications

News for the month of November 2023

Funding & IPO

Mergers & Acquisitions

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Artificial Intelligence / Machine Learning

Genome Editing / CRISPR / Cas9

Miscellaneous

Publications

News for the month of October 2023

Funding & IPO

Mergers & Acquisitions

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Genomic / Genetic Testing / CDx

Artificial Intelligence / Machine Learning / LLMs

Cell and Gene Therapy (CGT)

Miscellaneous

Publications

News for the month of September 2023

Funding / IPO

Mergers & Acquisitions

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Single-Cell Genomics / Spatial Genomics

Artificial Intelligence / Machine Learning / ChatGTP

Miscellaneous

Publications

News for the month of August 2023

Funding / IPO

Mergers & Acquisitions

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Multi-Omics

Artificial Intelligence / Machine Learning / ChatGPT

Miscellaneous

Publications

News for the month of July 2023

Funding / IPO

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Genomic/Genetic Testing / CDx / Liquid Biopsy

Genome Editing / CRISPR / Cas9

Spatial Omics

Artificial Intelligence / Machine Learning / Large Language Models

Miscellaneous

Covid-19 / SARS-CoV-2

Publications

News for the month of June 2023

Funding / IPO

Mergers & Acquisitions

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Genomic/Genetic Testing / CDx / Liquid Biopsy

Cell and Gene Therapy (CGT)

RWE / RWD

Spatial Omics

Genome Editing / CRISPR / Cas9

Artificial Intelligence / Machine Learning / Large Language Models

Microbiome

Miscellaneous

Publications

News for the month of May 2023

Funding / IPO

Mergers & Acquisitions

Precision Medicine

(Omics) Data Platform / Sequencing / Analysis / Instruments

Genomic/Genetic Testing / CDx / Liquid Biopsy

Genome Editing / CRISPR / Cas9