Certainly, the coronavirus and, with that COVID-19, has dominated 2020 and massively impacted not only our daily lives, but also the medical health care community and healthcare facilities in particular. Genomics proved critical to the public health response for SARS-CoV-2. The timely generation of whole genome sequences from the global community has quickly contributed to the development of novel diagnostic solutions and the identification of new variants, which allowed the detection of infected individuals and the understanding of transmission dynamics, as well as analysis of the origins and evolution of this new virus. Diagnostics companies quickly pivoted in response to the urgent need to screen and test large number of patients for possible SARS-CoV-2 infection by developing novel diagnostic tests for both presence and serological response to SARS-CoV-2. In order to help guide public health interventions and policies many initiatives have been launched that combine clinical, genomics, and epidemiological data generated. Within record time just as 2020 drew to a close, we have seen approval of the much anticipated COVID-19 vaccines by Pfizer/BioNTech and Moderna while Regeneron’s antibody cocktail (casirivimab and imdevimab), the first combination therapy, received FDA emergency use authorization for COVID-19.
As COVID-19 is disrupting healthcare and is giving telemedicine a boost, COVID-19 constraints are also pushing healthcare organizations to innovate around the consumer. Most excitingly, and also positively contributing to case and contact management, the global community of researchers has shown a highly collaborative and unprecedented approach to data sharing with making genomic data publicly available across the world.
But, besides COVID-19, so much has happened in 2020 that has been overshadowed by the pandemic. Since coronavirus has been front and center in many scientific and general media outlets, I decided to almost exclusively focus on the non-COVID aspects when summarizing 2020. For more in-depth reading, our compiled COVID-19/SARS-CoV-2 news page lists selected coronavirus/COVID-19 news.
Let’s not forget the precision medicine, genomics, and genetics sectors
The promise of precision medicine and genomics applications in the clinic for enhancing patient care via improved diagnostic and precision therapeutics is well established and reflected in the many events that took place in 2020. The year was marked by lots of activities which included technological advancements, huge investment rounds, eventful acquisitions that will change the face of the industry, new product releases, and exciting scientific developments.
It all started with a great funding boost for DNA sequencing technologies early in the year with Omniome ($60M), Element Biosciences ($80M), Oxford Nanopore (£109.5M), and Roswell Biotechnologies ($32M) receiving financing to advance their respective NGS technologies with the goal to increase sequencing performance, accuracy, speed, and throughput to drive cost-efficiency. In spite of investments related to advancements in COVID-19 testing and treatment garnering most attention, the precision medicine sector with genomics, genetics, data platforms, and AI applications still saw huge funding rounds, including: 54gene ($15M, Series A), Atomwise ($123M, Series B), Congenica ($50M, Series C), Freenome ($270M, Series C), DNAnexus ($100M, Series G), Ginkgo ($70M, Series F), GRAiL ($390M, Series D), Mission Bio ($70M, Series C), Neuron23 ($113.5M, Series A&B), Recursion ($239M, Series D), Sema4 ($121M, Series C), Singlera Genomics ($150M, Series B), and Tempus ($100M, Series G in March, $200M, Series G-2 in December) to name a few. This came in parallel with a previously predicted market slow-down in the direct-to-consumer segment which was starting to show a decline in DNA test sales resulting in among other things 23andMe announcing layoffs of 100 people.
Noteworthy acquisitions were numerous and continue to change the landscape of precision medicine and clinical diagnostics with major players getting bigger and more powerful in those various sectors, be it via strengthening their diagnostics business offering or creating data solutions to simplify data applications both in the clinical and research setting: Quest Diagnostics acquired Blueprint Genetics; Illumina acquired BlueBee with the goal to unify its data analytics products (see our interview with Hans Cobben, CEO of Bluebee and now VP of Software Platforms and Applications at Illumina discussing the future of genomics data analysis and genomics applications in the clinical setting); Ilumina to acquire GRAiL – which dropped its IPO plans proclaimed shortly before the acquisition announcement – for cash & stock consideration of $8B to join the cancer detection market: Foundation Medicine acquired Lexent Bio; Invitae acquired ArcherDX for $1.4B (as a result ArcherDx dropped its IPO plans), while WuXi NextCODE restructured to become Genuity Science. Other acquisitions included the Ancestry acquisition by Blackstone for $4.7B which raised some concerns with privacy advocates, and Teladoc Health agreeing to buy Livongo in an $18.5B deal. In parallel, some anticipated and much discussed acquisitions fell apart due to investor criticism (Thermo Fisher decided not to acquire Qiagen), after being challenged by anti-monopoly agencies in the US and UK (Illumina and PacBio terminated their planned $1.2bn merger in January), or due to management/organizational changes (Intermountain Healthcare and Sanford Health paused their merger and acquisition activity).
We learnt about significant large scale genomics initiatives, as demonstrated with the release of never seen before numbers of whole exome, genome, and variant data to the research and clinical community: The Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium presented the most comprehensive and ambitious meta-analysis of cancer genomes – they sequenced 2,658 whole-cancer genomes from 38 tissues and 1,188 transcriptomes; seven Nature papers explored different scientific aspects of the critical resource gnomAD used across the globe by clinical researchers and labs to annotate every single disease causing candidate variant which includes more than 140,000 exomes and genomes; with the release of gnomeAD v31 an additional 4,454 genomes were added, totaling 76,156 whole genomes: and the release of sequences and characterizations of exomes from 49,960 individuals from the UK Biobank revealing about 4M coding variants across 1,730 phenotypes.
And on the biggest award stage in science: In 2020 for the first time in history, women almost matched the number of men to win a Nobel Prize in a given year across all categories. Of particular note this year: Emmanuelle Charpentier and Jennifer A. Doudna jointly won the Nobel Prize in Chemistry for the development of a method for genome editing. The Nobel Prize in Physiology or Medicine was awarded to Harvey J. Alter, Michael Houghton, and Charles M. Rice who made the discoveries that led to the identification of a novel, Hepatitis C virus.
The clinical side had numerous exciting announcements with data integration and interoperability being continuously tackled via issuance of government rules aimed at better EHR interoperability, citing that it is vital for information to flow freely and without any obstruction during outbreaks like COVID-19; researchers developing a promising liquid biopsy-based test that can detect stomach, esophageal, colorectal, lung, and liver cancer up to four years before symptoms appear; QIAGEN launching QCI Interpret One which combines QIAGEN Clinical Insights solutions with N-of-One services to deliver interpretation of somatic variants in cancer patients; Tempus receiving CE Mark for its broad-panel genomic sequencing test; and Genomics England making significant strides in a system built on trust in NHS.
Emerging technologies highlights include the first DNA ‘tricorder’/mobile genome sequence analyzer, a new iPhone app being developed and meant to complement sequencing devices made by Oxford Nanopore, and the CRISPR gene-editing tool correcting the condition of Duchenne muscular dystrophy (DMD) in pigs, bringing the treatment closer to human application.
Big tech players pop up more and more establishing themselves within the healthcare arena with various activities, including:
- Amazon secretly working on a cure for the common cold, unveiling Halo (which tracks activity, body fat, and emotions) to battle Apple Watch and Fitbit, and introducing Amazon Pharmacy which delivers prescription medications for Prime users.
- Google developing AI to improve breast cancer screenings, developing AI to identify patients at high risk of blindness, releasing v1.0 of DeepVariant with boosted accuracy of Indel calls in for PacBio long reads, and DeepVariant v1.1 with DeepTrio and pre-trained models for Illumina WGS, WES, and PacBio HiFi, teaming up with Deloitte, KPMG to launch healthcare interoperability program for providers and payers, and Google Cloud launching Healthcare API and other solutions for supporting healthcare and life sciences organizations during the pandemic.
- Microsoft announcing Cloud for Healthcare services and extending its partnership with Allscripts for another five years to enable the expanded development and delivery of cloud-based health IT solutions.
Some 2020 blog highlights
- Bluebee’s coherent data strategy set to unify Illumina’s data analytics products
- The Role of the Human Gut Microbiome in Type 1 Diabetes
- Gene Editing Revamped with CRISPR Prime Editor – Result Is A High Efficiency, More Precise Gene Editor With Versatile Editing Capabilities And Lower Off-Target Effects
- Life of a Clinical Geneticist: Dealing Often With Heartless Bureaucracy
- Real World Evidence is not simply a buzzword anymore in our fast-paced world of health technology
To sum it all up – 2020 was an eventful year indeed, not just because of COVID-19, but also due to many technological advancements, acquisitions, and investments that are changing the practice of precision medicine, genomics, and genetics at the clinical setting.
It will be interesting to follow the J.P. Morgan 2021 healthcare conference – scheduled for in a week from today – which usually provides a first glimpse of what the new year has in store for us. With the pandemic, though, predictive outlooks can be especially challenging. Hopefully, 2021 brings the long-awaited stabilization and recovery in both our daily lives and the healthcare community.
To read all of the yearly and monthly news consult our Industry News site which compiles all the highlights.
