Illumina CEO Reflects on the State of Genomics in 2021

Jan 5, 2022 9:00 AM ET

By Francis deSouza

COVID-19 inflicted tremendous suffering in 2021, taking almost 3.5 million lives this year, more than died from HIV/AIDS, tuberculosis and malaria combined last year. We will never forget the loss and pain of this year. But 2021 will also be remembered for the heroic actions of many, and the major medical breakthroughs that were accelerated by the extreme urgency of the pandemic.

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

Global genomic epidemiology recognized as key to fighting COVID-19 and future pathogen outbreaks

The UK deployed the first COVID-19 genomic surveillance in mid 2020. 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.

This global, genomic, pathogen surveillance infrastructure will help us even after this pandemic. It's an important early warning system against future outbreaks – zoonotic coronavirus transmissions, emerging anti-microbial resistance or bioterrorist attacks. Genomic surveillance will help us know if our tools against an outbreak – vaccines, tests, therapies – will be effective as variants emerge, and understanding the geographic spread of variants can inform public policies. We can’t prevent future outbreaks but we can work to make this the last pandemic.

Developing countries emerged as genomics leaders but equity in access to healthcare is a major issue

Catalyzed by the pandemic, many developing countries established or expanded genomic sequencing labs e.g. Dr. Jayanthi’s team established the first genome sequencing lab in Mumbai, Dr. Saha’s team in Bangladesh, and Dr. de Oliveira’s team expanded sequencing capacity in South Africa and helped train genomic scientists across Africa.

Developing countries played a key role in COVID-19 surveillance. Teams in Botswana and South Africa first alerted the world to the highly transmissible Omicron variant. This early warning helped the world respond more quickly to Omicron than we did to Delta. We now need to ensure public policies support countries that report new variants.

2021 highlighted the large inequity in global access to healthcare, like COVID-19 vaccines and therapies. Philanthropy was, and will be, essential. Illumina donated sequencers and consumables for COVID-19 surveillance, and committed $60 million to support the Pathogen Surveillance Initiative, with a focus on Asia and Africa. We also committed $120 million in-kind to support genomic sequencing of people, primarily children, around the world with genetic diseases. 2021 reminded us that we have much to do to close this global inequity in access to lifesaving healthcare.

Genomic medicine entered the mainstream

The first COVID-19, mRNA-based, vaccines were 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. This is unprecedented. mRNA developers are now working on vaccines for other diseases including malaria, Ebola, and cancer.

We also saw important progress in the development of CRISPR-based therapies. Intellia and Regeneron announced landmark, positive clinical data for NTLA-2001 in hereditary transthyretin amyloidosis, a life-threatening disorder. This demonstrates the powerful potential for in vivo CRISPR medicines. We also saw 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.

GRAIL launches a breakthrough multi-cancer early detection blood test for 50+ cancers

In 2021 GRAIL launched the world’s first, and only, blood test that detects 50+ types of cancer in asymptomatic individuals, across cancer stages, identifying the tissue of origin, with a <1% false positive rate. This is a huge step forward in the fight against cancer.

Cancer kills nearly 10 million people globally each year. Early detection saves lives, but there’s no screen for most cancers, including 45 of the 50 that Grail detects, and 71% of cancer deaths today are to cancers for which there was no screen. Early response to the test has been positive. The UK’s National Health Service launched a large trial with 140,000+ volunteers to take the test, with a plan to roll it out to the UK population.

Reimbursement for genomic tests expands to 1 billion people globally

2021 was another year of significant expansion of reimbursement for genomic testing, and this year the world crossed a coverage milestone, with over one billion people across 45 countries reimbursed for genomic tests, for cancer therapy selection, genetic disease diagnosis, and non-invasive pre-natal testing. Momentum for reimbursement continues to grow and we expect 2 billion people to be reimbursed in the coming years.

2021 was a tough year. As I reflect on 2021 and look forward into 2022, I have no doubt that the progress we’ve made this year means we’re much stronger than we were a year ago.

Happy New Year. May 2022 bring you health, peace and joy.

You can follow me on twitter: @fdesouza