In the war against COVID-19, genome-derived insights have informed what to know about the disease and how to combat it.
The use of viral and human genome sequencing has helped the medical community design improved diagnostics, track the emergence of virus variants, and understand why people may be more susceptible to infection or have more severe outcomes.
This work has undoubtedly helped mitigate the pandemic and saved lives. Even more than that, it’s helping to build a better future for healthcare: One where large-scale genomics can help governments more proactively combat disease, and help healthcare providers make more personalized decisions for patients.
Advancing Viral Surveillance
Viral surveillance utilizes genome sequencing to map a virus’s RNA to better monitor changes in its genetic code. Monitoring the evolution of infectious diseases like COVID-19 helps researchers design improved diagnostics and can help researchers detect the mutations in a virus that enable it to be more contagious, cause more severe disease, or to evade vaccines.
Prior to the pandemic, the United States had a fragmented model of surveillance testing, which limited our collective ability to monitor, in real-time, changes in the evolution of infectious agents. To address this, the CDC took action to better coordinate surveillance efforts by bringing together a network of public and private labs throughout the nation to enable improved genetic epidemiology.
In the past few months, public and private laboratories have scaled to sample greater than 5% of all COVID positive samples, a level of sequencing that enables public health authorities to provide detailed guidance in response to changes in the pandemic. This new data capability provides the public and private sector an invaluable national resolution to rapidly identify and track variants of concern. Continuing to do so regularly has the potential to provide early warning for any variants that may evade vaccines and key therapeutics, such as monoclonal antibodies.
Understanding the Link between DNA and Disease
Just as viral sequencing can enable the creation of more targeted diagnostics, therapeutics and vaccines, human sequencing can enable the creation of more personalized treatments and therapies for patients. As seen since the start of the pandemic, COVID-19 can cause lethal symptoms in some people, while others show no symptoms at all. Factors like a person’s pre-existing conditions can affect their vulnerability to COVID-19, but what about their DNA?
Recent research has helped shed some light on how a person’s genetics may influence their susceptibility to COVID-19. For example, findings by the Host Genetics Initiative (HGI), a collaboration of leading research labs from around the world, revealed that certain variations in a person’s DNA sequence can lead them to be more likely to develop severe COVID-19 symptoms. Current work is now focused on understanding the underlying biological mechanisms, but some of these variants are hypothesized to impact the ability of the immune system to respond to microbes and viruses in the lungs.
Another study found that alterations in a person’s DNA that change how the body’s innate immune response functions could be responsible for up to 3.5% of severe COVID-19 cases. This marked the first time scientists have been able to identify a location in the DNA that is not only associated with severe COVID-19, but also likely causing it.
These findings—only made possible by genome sequencing—could lead to new, more personalized strategies for identifying at-risk individuals. They could inform the development of potential diagnostics for earlier triage, as well as therapeutics for treating—or possibly preventing—infectious diseases like COVID-19.
Other Notable Developments
The pandemic is the most recent example demonstrating the importance of next-generation sequencing in science and medicine.
Population genomics initiatives in the U.S. today are beginning to leverage the benefits of new models of accessing sequenced DNA information—such as the ability to generate a patient’s DNA dataset once, securely store it, and reuse it multiple times over the course of a patient’s lifetime.
Multiple initiatives across health systems are now using this genomic data to improve care outcomes for diverse populations of patients, including those that are typically hard to reach. Many of these initiatives are returning actionable results back to patients and implementing insights into clinical care.
These studies are assembling some of the largest genomic and health data sets in the world with targets in the hundreds of thousands to millions of participants. These studies are now yielding important findings about the role of genetics in driving disease outcomes. For example, in one study in Northern Nevada, they found that over 90% of patients that carry variants for preventable cancer and heart disease are missed in typical clinical care.
A New Standard of Care
The use of genomics is expanding in exciting ways to help the world understand diseases and create better health outcomes. By leveraging genomic sequencing, governments and health systems can more proactively identify, respond to and prevent the spread of future disease outbreaks. And by adopting population genomics—the systematic implementation of genomics to broad populations at scale—health systems can provide a more personalized form of patient care.