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Industry News in Genomics, Genetics, Precision Medicine, and Beyond

Find here a listing of the latest industry news in genomics, genetics, precision medicine, and beyond. We will update and add to this page on a regular basis. This page is not a compilation of all relevant information but rather contains some key highlights that we consider to be of importance to share with the community.

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News for the month of November 2022

Some of the biggest news during the month of November was the FDA approval of Hemgenix, a CSL Behring and uniQure hemophilia B gene therapy. Hemagenix is a one-time treatment and currently the most expensive therapeutic in the world with an eye-popping price tag of $3.5M per dose. However, since patients with moderate to severe hemophilia B can cost the healthcare systems more than $20M over their lifetime, the drug – in spite of its staggering price – is argued to generate “significant cost savings for the overall healthcare system” and “significantly lower the economic burden of hemophilia B by reducing annual bleed rates”.

Other news included a report on a multi-institutional team study that examined a large Alzheimer’s disease cohort of over 1800 people: The research findings help explain the progression of Alzheimer’s-related dementia in each patient, outlining a multilevel biological classification system that predicts disease severity and future neurological symptoms. The result is a unified epigenomic, transcriptomic, proteomic, and metabolomic taxonomy of Alzheimer’s disease progression and heterogeneity. In other news, researchers reported on the development of a new method to map the spatial evolution of cancers, which entailed a genetic clone mapping workflow centered around base-specific in situ sequencing (BaSISS) technology to derive quantitative maps of multiple genetic clones of cancer cells. Lastly, a comprehensive whole genome sequencing study identified 134 genes linked with autism and a range of genetic changes, most notably gene CNVs, likely to be associated with autism, including ASD (autism spectrum disorder)-associated rare variants in about 14% of participants with autism. The study used whole genome sequencing (WGS) to examine the entire genomes of over 7,000 individuals with autism as well as an additional 13,000 siblings and family members.

Funding & IPO

Mergers & Acquisitions

Precision Medicine

(Genomics) Data Platform / Analysis / Instruments

Genomic/Genetic Testing/CDx/Liquid Biopsy

RWD / RWE

Miscellaneous

CRISPR / Cas9

COVID-19 / SARS-CoV-2

Publications

News for the month of October 2022

The next-generation sequencing (NGS) sector has seen a lot of activity this year. We have witnessed new companies – Singluar Genomics, Ultima Genomics, Element Biosciences – and new products being launched, while established Illumina made a splash as well, unveiling just last month the NovaSeqt™ X Series. Now PacBio followed this trend at this year’s ASHG conference in LA with the announcement of the launch of two, new instruments: 1) Onso, a short-read instrument using the short-read technology of Omniome, a recently acquired company, and 2) Revio, a new long-read platform, which will replace their Sequel IIe platform. The Revio platform is said to be 15x more powerful than the current Sequel IIe system with a redesigned, denser SMRT Cell using the same highly accurate Hi-Fi chemistry. The Revio platform will be ready to ship in the first quarter of 2023, with the Onso platform following in the first half of 2023.

Additional sequencing/mapping platform announcements made at ASHG included, the US commercial launch of the DNBSEQTM sequencing product line by Complete Genomics, part of MGI, Nabsys revealing details about their next-generation whole-genome mapping technology, and Oxford Nanopore announcing the rollout of its PromethION 2 (“P2”) Solo sequencer.

Funding & IPO

Mergers & Acquisitions

Precision Medicine

(Genomics) Data Platform / Analysis / Instruments

RWE / RWD

Single Cell / Spatial Omics

Artificial Intelligence / Machine Learning

Miscellaneous

CRISPR / Cas9

Publications

News for the month of September 2022

The September news highlights were manifold and included Illumina unveiling the NovaSeqt™ X Series by adding Chemistry X to its NovaSeq system with the result of more data, faster cycle times, and all that at a reduced cost (suggesting that the new cost per human genome will be $200). DeepMind announcing that they have expanded their company’s database of folded proteins to more than 200 million – astoundingly, nearly all catalogued proteins known to science, including those in humans, plants, bacteria, animals, and other organisms – and that the company is making the AlphaFold Protein Structure Database publicly available at no cost. In other news, Governor Newsom signed the California Cancer Care Equity Act (SB 987), which will expand access to specialized cancer care for Medi-Cal patients who receive a complex cancer diagnosis. This will enable the most vulnerable populations of California to gain access to optimal cancer care services more easily, such as genomic testing, precision medicine-based care, subspecialty expertise, and targeted clinical trials. On the business side, Illumina received a decision from the European Commission prohibiting the company’s acquisition of GRAiL, which Illumina intends to appeal. On the other hand, in the US the company was issued a ruling by a US Federal Trade Commission judge in favor of Illumina’s acquisition.

On the science side the tool SigProfilerExtractor was used to uncover novel mutational signatures by de novo extraction from 23,827 sequenced cancers and found four mutational signatures, including one that ties bladder cancer to tobacco smoking. Furthermore, the potential of precision genome editing in treating inherited retinal diseases (IRDs) was described showing preclinical success and demonstrating that there is hope that in vivo gene editing will be the future treatment paradigm for IRDs. And lastly, lecanemab, the Alzheimer’s drug from Eisai and Biogen, met the study’s main and secondary goals, reducing clinical decline over 18 months compared to a placebo which potentially indicates a game changer for this therapeutic paradigm which had seen many challenges with little success in the past..

Funding /IPO

Precision Medicine

(Genomics) Data Platforms / Analysis / Instruments

Genomic/Genetic Testing/CDx/Liquid Biopsy

RWD/RWE

Artificial Intelligence / Machine Learning

Miscellaneous

COVID-19 / SARS-CoV-2

Publications

News for the month of August 2022

During the month of August Mount Sinai announced the launch of a large-scale genetic sequencing project in partnership with the Regeneron Genetics Center. This ambitious program aims to enroll one million Mount Sinai patients over a five-year period. Its goal is to provide researchers with a unique data set that will help them assess the true potential of genetics-based, precision medicine approaches to guide everyday patient care, as well as to generate new insights to guide the discovery and development of potential new therapies. Following the same line of thinking to make data available to the scientific community, the White House directed health and science agencies to make federally funded studies immediately available to the public after publication, a move that open-access advocates have long pressed for but one that threatens to upend the business models of scientific journals, resulting in publishers’ protests.

Other news of the month included Sanofi signing a $1.2B pact with AI-company Atomwise, GenomOncology and Congenica announcing collaborative development of a novel precision oncology solution, Illumina opening a new manufacturing site in China, CVS planning to go into primary care by year-end, a report disclosing how look-alike humans identified by facial recognition algorithms show a significant degree of genetic similarities, and Moderna suing Pfizer, BioNTech for COVID-19 vaccine patent infringement.

Funding / IPO

Precision Medicine

(Genomics) Data Platforms / Analysis / Instruments

Genomic / Genetic Testing / Liquid Biopsy

CRISPR / Cas9 Technology

Artificial Intelligence / Machine Learning

Miscellaneous

COVID-19 / SARS-CoV-2

Publications

News for the month of July 2022

Two of the top July headlines included Amazon acquiring One Medical, a San Francisco and membership-based primary care service with in-person care and online resources, for $18 per share in an all-cash transaction valued at approximately $3.9 billion, and Invitae laying off more than 1,000 employees in a massive restructuring plan.

Other news focused on several large-scale population studies published in July that demonstrate the power of large data. Regeneron identified rare germline mutations in the gene CIDEB which protects against liver disease by performing a multistage exome sequencing and genetic association analysis (N=542,904 persons data). Researchers at the University of Cambridge investigated the association between alcohol intake and telomere length in over 245,000 participants in the UK Biobank – the study findings indicate that alcohol consumption may shorten telomere length which may have implications for age-related diseases. deCODE genetics/Amgen published the largest set of human whole genome sequences (N=150,119 genomes) to date from the UK Biobank. 13 pharmaceutical companies together with researchers from the UK Biobank presented the largest open-access resource of proteomic data analyzing 1,463 proteins across 54,306 UK Biobank participants – a stunning number of 10,248 primary genetic associations were identified, of which 85% were newly discovered.

Funding / IPO

Mergers & Acquisitions

Precision Medicine

Genomic / Genetic Testing / Liquid Biopsy

(Genomics) Data Platforms / Analysis / Instruments

Saptial Omics Platforms

Microbiome

CRISPR/Cas9 Technology

Miscellaneous

COVID-19 / SARS-CoV-2

Publications

News for the month of June 2022

The month of June was dominated by a slew of exciting new technology announcements coinciding with the Annual AGBT conference held earlier in the month in Orlando, FL. Much of the news centered around the latest technical advancements in spatial genomics with several new platforms being launched, single-cell analysis reported to now being FFPE enabled, and new sequencing systems with Ultima Genomics coming out of stealth mode with $600M in funding with a new high-throughput, low-cost sequencing platform that promises to deliver a $100 genome.

Top Technology announcements included:

Funding / IPO

Mergers & Acquisitions

Precision Medicine

Genomic / Genetic Testing / Liquid Biopsy

(Genomics) Data Platforms / Analysis / Instruments

RWE / RWD

CRISPR/Cas9 Technology

AI / ML

AGBT 2022

Spatial genomics / Single-cell genomics

Sequencing systems

Sequencing automation / reagents

CRISPR technology

Metagenomics

Miscellaneous

COVID-19/SARS-CoV-2

Publications

News for the month of May 2022

During the month of May several worthwhile initiatives have either been completed or just started. This includes 54gene completing its first consortium-led publication in Nature Genetics related to a study on over 100,000 Nigerians: “Promoting the Genomic Revolution in Africa through the Nigerian 100k Genome Project”. Similarly, over the course of the next three years, the whole genomes of 100,000 healthy Singaporeans will be sequenced and analyzed to create one of Singapore’s largest research data sets. Both these initiatives will increase the diversity in genomic studies, and will therefore be important resources that are expected to play a key role for African and Asian populations to allow them to benefit from the global efforts at advancing precision medicine for various diseases.

Other business news included InformedDNA announcing evidence-based genomics decision support service, InformedGENOMICS for health plans which will equip medical directors and clinical reviewers with ready-to-use criteria and clinical utility reviews, Thermo Fisher Scientific and Qatar Genome Program partnering to advance precision medicineBC Platforms, Euformatics and Oncompass Medicine forming a partnership to develop oncology NGS workflows for buyer consortium of seven major European hospitals, Tempus launching psychiatric Real-World Data ProgramNanoString launching an integrated informatics workflow which couples the GeoMx instrument to automated downstream data processing using the Illumina DRAGEN™ Bio-IT platform, and Illumina stepping deeper into drug discovery with Deerfield, Janssen partnerships.

Funding / IPO

Precision Medicine

RWE / RWD

(Genomic) Data Platforms / Analysis

Miscellaneous

Digital Health

Spatial Genomics

SARS-CoV-2 / COVID-19

Publications

News for the month of April 2022

In April major attention was given to the completion of the human genome sequence, published March 31. Nearly 20 years after the Human Genome Project sequenced 92% of the human genome, scientist just only now published the first truly 100% complete genome. The effort involved an unprecedented, grassroots collaboration of scientists around the world who applied novel long-read sequencing technologies (Oxford Nanopore and PacBio technologies) to sort through massive, previously unmapped strands of DNA located primarily in the dense centers of human chromosomes. The T2T-CHM13 version includes the sequence of almost 200 million base pairs that were missing in the previously used reference genome, GRCh38, published by the Genome Reference ConsortiumTrusted Source. Besides filling the gaps in the genome, the T2T-CHM13 genome has also corrected errors present in GRCh38.

On the business side highlights for the month of April included Pharmaceutical Companies launching the Precision Cancer Consortium to drive global access to comprehensive genomic testing for all patients with cancerSOPHiA GENETICS hitting a major milestone of One Million Genomic Profiles analyzed by the SOPHiA DDM™ Platformreal-world data and AI startup ConcertAI scoring $150M, valuation skyrocketing to nearly $2B, and AI startup Unlearn adding $50M for better, faster, smaller & cheaper clinical trials, just to name a few.

Funding / IPO

Mergers & Acquisitions

Precision Medicine

(Genomic) Data Platforms / Analysis

Genetic Testing / Genomic Profiling

Liquid Biopsy-based Testing

RWE / RWD

Spatial Genomics

SARS-CoV-2 / COVID-19

Digital Health

EMR / EHR

Microbiome

Miscellaneous

Publications

News for the month of March 2022

Highlights for the month of March included the All of Us Research Program, after it started nearly four years, releasing nearly 100,000 whole genome sequences which sets the stage for new discoveries, the NIH searching for a new leader after Collins’ retirement, new blood biomarker suggested to predict dementia risk in Mexican Americans, and study demonstrating early-stage multi-cancer detection using an extracellular vesicle protein-based blood test and AI-enabled marker analysis.

The business news were plentiful and included Thermo Fisher Scientific launching CE-IVD Marked NGS instrument for use in clinical labsPacBio opening European Headquarters in LondonBC Platforms opening Singapore R&D Center and signing new data partnership in Asia Pacific regionGenomenon raising $20M in Series Bthe Broad Institute selecting Fabric Genomics for implementation of clinical whole genome sequencing offeringDNAnexus securing $200M in Series H (bringing its total funding to almost $0.5B)Illumina wining extended U.S. ban on BGI gene-sequencer sales in addition to releasing DRAGEN v3.10, and lastly Hindenburg Research publishing a report on Natera’s medical billing practicessuggesting Natera’s revenue growth has been fueled by deceptive sales and billing practices aimed at doctors and insurance companies.

SARS-CoV-2 / COVID-19

Funding / IPO

Mergers & Acquisitions

Precision Medicine

Genomic / Genetic Testing

Genomic Data Platforms / Analysis

Sequencing Technology

Single-Cell / Spatial Genomics

Artificial Intelligence / Machine Learning

Metagenomics

Miscellaneous

Publications

News for the month of February 2022

SARS-CoV-2 / COVID-19

Funding / IPO

Mergers & Acquisitions

Precision Medicine

Genomics Data Platforms / Analysis

Microbiome

Genomic / Genetic Testing / Liquid Biopsy

Single Cell / Spatial Genomics

Miscellaneous

Publications

News for the month of January 2022

January is typically taken over by the Annual JP Morgan conference, usually held in San Francisco, but this year because of COVID, the conference was yet again held remotely. This healthcare conference tends to be rich in exciting announcements which often lay the ground for what is to come as major trends throughout the year. One often says it’s a window to what is just around the corner for the coming year, and we’d expect this to hold true also for 2022.

Interestingly, the conference started out with Illumina posting new sales record numbers and making a splash with two separate announcements: (1) the announcement of a new sequencing-by-sequencing chemistry (codenamed “Chemistry X) to gear up for its long-read Infinity which is scheduled to launch later this year, and (2) the collaboration with Nashville Biosciences to establish a clinico- genomic resource in alliance with multiple pharma industry partners.

Additional JP Morgan Healthcare Conference Highlights

SARS-CoV-2 / COVID-19

Funding / IPO

Mergers & Acquisitions

Partnerships / Collaborations

Precision Medicine

Sequencing Platforms

Genomics Data Analysis

Miscellaneous

Publications

Following are archived industry news

Industry News – 2021

Industry News – 2020

Industry News – 2019

Industry News – 2018

Industry News – 2017

COVID-19 / SARS-CoV-2

Collated COVID-19/SARS-CoV-2 Information

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