The Golden Age of Genomics Sequencing

COVID-19 inflicted tremendous suffering in 2021, claiming almost 3.5 million lives, which was more than HIV/AIDS, tuberculosis, and malaria combined in the same year. However, many medical biotech improvements and significant breakthroughs have been accelerated by the extreme urgency of the pandemic.

Genomics is playing a crucial role against the pandemic. The breakthroughs made in 2021 will improve human health beyond COVID-19. Below are some of the year’s key genomic developments:

Global Genomic Epidemiology is Recognized as Key to Fighting COVID-19 and Future Pathogen Outbreaks

While the world was waking up to the threat of the COVID-19 pandemic, the UK government founded COVID-19 Genomics UK in April 2020 as the world’s first national COVID-19 genomic surveillance program.

The rapid spread of the Delta variant in late 2020 was a global wake-up call. The world started rapidly deploying genomic COVID-19 surveillance this year and ~200 countries sequenced and shared 6.6+ million SARS-CoV-2 genomes in 2021.

The pandemic has drawn attention to genomic epidemiology. The global genomics and pathogen surveillance infrastructure become a powerful warning system against future outbreaks – zoonotic coronavirus transmissions, emerging anti-microbial resistance, or bioterrorist attacks. Furthermore, genomic surveillance helps us understand whether our tools against an outbreak – vaccines, tests, and therapies, will be effective as variants emerge in the future.

Developing Countries Emerged as Genomics Leaders, but Equity in Access to Healthcare is a Major Issue

Genomics surveillance highlights a big resource gap between developed countries and developing countries. Take India for example. The rapid worldwide spread of the Delta variant was largely due to a lack of genomics surveillance to detect mutations in SARS-CoV-2, leading to delays in the global response.

Illumina created the world’s first FDA-authorized next-generation sequencing-based COVID-19 diagnostic test, COVIDSeq Test. It is able to trace back to the origin of the virus, monitor the variants, thus playing a crucial role in COVID-19 surveillance.

Francis deSouza, the CEO of Illumina, stated that the company has donated sequencers and consumables for COVID-19 surveillance to several countries in  Asia and Africa, and has also committed $60 million to support the Pathogen Surveillance Initiative.

Genomic Medicine Entered the Mainstream

Genomic sequencing has been more popular over the years, and the global market of which has reached over 1 billion people in 2021. Aside from cancer therapy, genetic disease diagnosis, and non-invasive prenatal testing (NIPT), genomic sequencing is expected to expand in the future.

The first COVID-19, mRNA-based vaccines rolled out in late 2020 and over 500 million doses were delivered in 2021. This represents the first genomic medicine delivered at scale. The speed of development, and the high efficacy and safety of the mRNA vaccines, even against new variants, is one of the biggest medical and scientific success stories of the year. In addition, the mRNA vaccine infrastructure combined with genomic sequencing of variants means that the implications of new variants on vaccine effectiveness can be assessed in weeks, and boosters can be introduced in months if needed. mRNA developers are now working on vaccines for other diseases, including malaria, Ebola, and cancer.

There is also promising progress on EBT-101, a CRISPR-based therapeutic candidate in development as a potential functional cure for chronic HIV, as well as for CRISPR-based therapies in development for conditions like sickle-cell disease.

Author

Aurora Mau