We say goodbye to 2022 which was full of significant developments in the life sciences, precision medicine, genetics, and genomics sectors. Notable new players in the next-generation sequencing field showcased their technological advancements with new platform releases and even the promising delivery of a $100 genome. New players in this area include Singular Genomics (G4 system, announced end of 2021), Element Biosciences (AVITI system), MGI (making DNBSEQ sequencers available in the US), and Ultima Genomics (UG 100 sequencing machine and software platform) coming out of stealth mode. Fresh blood is typically good for innovation and drives advancement(s), as we could witness at ASHG with Illumina pushing out the release of the NovaSeq™ X Series – also on the path for the $100 genome – and PacBio releasing two new platforms, the short-read instrument Onso, using the short-read technology of Omniome, and Revio, a new long-read platform, which will replace their Sequel IIe product and Oxford Nanopore announcing the rollout of its PromethION 2 (“P2”) Solo sequencer. These are exciting technological developments as they feed new applications both in the clinical and basic research sectors.
In parallel, we have also witnessed a plethora of high-throughput spatial omics techniques being put to the task in basic research over the last year, a trend that is coinciding with the release of new commercial solutions from players like NanoString, 10x Genomics, Akoya Biosciences, Vizgen, Rebus Biosystems, Resolve Biosciences, Bruker, and others.
The advancements on the clinical side are guided by large population studies and initiatives, that either have been completed, have just started, or have recently released an update. Some examples are listed here:
- All of Us Research Program, after it started nearly four years, released nearly 100,000 whole genome sequences which sets the stage for new discoveries.
- The 54gene consortium-lead Nigerian 100K Genome Project completed its first publication, Promoting the Genomic Revolution in Africa through the Nigerian 100k Genome Project.
- deCODE genetics/Amgen published the largest set of human whole genome sequences (N=150,119 genomes) 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.
- The new 100,000 healthy Singaporeans study was started, which over the course of the next three years will sequence and analyze the whole genomes of 100,000 healthy Singaporeans to create one of Singapore’s largest research data sets.
- Mount Sinai announced the launch of a large-scale genetic sequencing project in partnership with the Regeneron Genetics Center with the goal to enroll one million Mount Sinai patients over a five-year period and 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 enable the discovery and development of potential new therapies
Many of these initiatives will increase the diversity in genomic studies, and will therefore constitute important resources that are expected to play a key role for African and Asian populations to allow them to benefit from the global efforts aimed at advancing precision medicine for various diseases.
Some of these large studies also demonstrated the power of large data. Examples include:
- 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.
- A report on a multi-institutional team study that examined a large Alzheimer’s disease cohort of over 1800 people highlighted research findings that may 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.
- A comprehensive whole genome sequencing study identified 134 genes linked with autism and a range of genetic changes, most notably gene copy number variations (CNVs), 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.
While we witnessed these exciting technological and data advancements…
.. large fundraising events took place…
..(Freenome $300M in Series D bringing the total to more than $1.1B; DNAnexus $200M in Series H bringing its total to almost $0.5B; ConcertAI $150M bumping its valuation to nearly $2B; BostonGene $150M in Series B propelling the company to unicorn status; Delfi Diagnostics $225M in Series B; Tempus $275M bringing the total to more than $1.5B; or Ultima Genomics coming out of stealth mode with $600M in funding),
..acquisitions worth mentioning happened…
..(Amazon acquiring One Medical; Illumina acquiring IDbyDNA; Exact Sciences acquiring PreventionGenetics; Element Biosciences acquiring Loop Genomics; Fulgent Genetics acquiring Fulgent Pharma and Inform Diagnostics; Tempus acquiring Highline Sciences; Sema4 acquiring GeneDx; Bionano Genomics acquiring Purigen Biosystems; Myriad Genetics acquiring Gateway Genomics; Ginkgo Bioworks acquiring Cirularis, Altar, and Zymergen: 10x Genomics acquiring ReadCoor and CARTANA; and Integrated DNA Technologies acquiring ArcherDx Next Generation Sequencing Research Assays from Invitae),
..and other stories emerged that kept everyone on high alert:
.. Sanofi signing a $1.2B pact with Atomwise in an AI drug discovery deal; Illumina still defending its $7.1B GRAiL purchase (completed in August 2021) to fend off antitrust regulators, both Invitae and Sema4 laying off employees after massive restructuring plans, Natera being hit with Class Action over allegedly inaccurate prenatal screening tests, Bio-Rad and Qiagen supposedly being in talks over a $10B merger, and Elizabeth Holmes being sentenced to more than 11 years for fraud in connection with her blood testing start-up company Theranos.
2022 was also the year that marked the return of conferences – enlightenbio attended the Bio-IT World Conference & Expo in Boston in May, PMWC 2022 Silicon Valley in June, and the Annual ASHG Meeting in October in LA. It was a great opportunity to reconnect with friends, former colleagues, and many enlightenbio customers.
2022 was also the year enlightenbio launched the News Dashboard, a resource that is designed to stay up-to-date with latest news in the area of precision medicine, including genomics, genetics, diagnostics, emerging technologies, AI/ML, clinical trials, next-generation sequencing. The News Dashboard also allows filtering and searching of articles of interest. Most importantly, the dashboard, with its focused content, reduces the time to find the latest news and articles, and as such is an effective gateway in the area of genomics, genetics, and precision medicine, and related life science fields. In case you wonder how we stay up-to-date quickly on top news.
Last but not least, we were blessed to have been able to work with many exciting companies in the sector on various client projects. Some of the companies/projects included Karius, Ontoforce, L7 Informatics, PMWC LLC – Precision Medicine World Conference, Syncell, and Fabric Genomics, supporting them with detailed market and competitive landscape research, challenges and unmet needs research and analysis, product positioning, minimal viable product definitions, persona research, use case and white paper generation, and product marketing projects. And along the way we had the opportunity to speak to some executives in exciting companies that tackle some of the biggest challenges:
- Valerie Morel (CEO at Ontoforce): ONTOFORCE Wants to Increase Data Literacy and Empower Citizen Data Scientists
- Mahyar Salek (President, CTO & Co-Founder at Deepcell): Deepcell Aims to Create a Single Cell Morpholome Platform
- Karl Sebby (CEO at Truwl): Truwl is on a Mission to Make Bioinformatics Comprehensible and Accessible
To sum it all up: 2022 was an eventful and exciting year creating a solid foundation for what we may expect to come in 2023.
We should expect to witness significant technological advancements, with AI/machine learning taking the lead and big data applications such as in drug discovery and clinical decision-making benefitting from these; whole genome sequencing continuing on its path of steadily increasing its footprint in the clinical space, ultimately improving our diagnostic capabilities; the field of spatial, single cell, and multi-omics translating the technological potential into new powerful high resolution applications. These developments will help drive translation of genetic discoveries and expedite clinical applications. The 2023 JP Morgan healthcare conference, scheduled for next week, will surely again live up to its reputation of providing a first comprehensive glimpse of what the new year has in store of us.
Enlightenbio wishes everyone a Happy, Healthy, and Prosperous 2023 !
