Precision Medicine: The Way Forward for Managing Future Pandemics
Hamad Bin Khalifa University

Excellence Precision Medicine: The Way Forward for Managing Future Pandemics

By Dr. Nady El Hajj

The world has reached a grim milestone in the fight against COVID-19. At the time of writing, at least one million people have succumbed to the virus. People are affected in different ways after infection with the SARS-CoV-2 virus that causes COVID-19, with a subset suffering severe illness and respiratory failure. And despite ongoing efforts to develop a vaccine, supplies will be limited at first with widespread coronavirus vaccinations not available until at least mid-2021.  

The question then is, who should get the vaccine first? Most of us agree that frontline healthcare workers and those at increased risk of severe illness should be immunized first. According to the Centers for Disease Control and Prevention (CDC), COVID-19 patients aged 75-84 years have an eight-fold higher rate of hospitalization and a 220-fold higher death rate compared to 18-29 year olds. The hospitalization rate increases to 13-fold and the death rate to 630-fold in patients older than 85 years. This has not always been so with other pandemics. The 2009 H1N1/09 virus was particularly dangerous for children (5-18 years) and 25-49 year-olds. Similarly, 1918’s Spanish Flu was notable for its high mortality rate among adults aged between 20 and 40 years. 

When an outbreak occurs, it is important to quickly determine the most vulnerable group in the population and prioritize treatment and protection to those at highest risk. Therefore, it is essential to find strategies to identify high-risk subpopulations and develop rapid approaches for diagnosis and treatment. Precision medicine is a novel approach for disease treatment and prevention based on each person’s genetic makeup, lifestyle, and the environment they live in. It is promoted as the future of healthcare where treatments are individually tailored to the patient, which is in contrast to the one-size fits all approach currently used in healthcare settings. 

Precision medicine entered mainstream clinical practice in oncology where therapies are specifically chosen and designed to target genetic mutations in cancer. In precision oncology, biomarker‐guided trials are being developed as new approaches to cancer research. Genetic information is one of the hallmarks of precision medicine due to its power to explain individual differences in disease susceptibility and treatment response. Even the risk of contracting certain infectious diseases can be determined by changes in a person’s DNA. A famous example is the CCR5-delta 32 mutation that is known to give immunity against the human immunodeficiency virus (HIV). Some scientists even suggest that this mutation might have offered protection against the plague, which explains its high frequency in Europeans due to positive selection. 

Ongoing research has also provided valuable insight into genetic susceptibility to infection and severe illness caused by COVID-19. Genetic flaws affecting the interferon response to infection were found in a fraction of critically ill patients. Type I interferons are known to have an essential role in the antiviral immune response during early infection. Similarly, a genome-wide association study in France and Spain revealed association signals overlapping an area on chromosome 3 as well as the ABO blood group locus in COVID-19 patients with respiratory failure. This confirmed non-genetic studies showing a lower risk in individuals with blood group O, whereas blood group A had a slightly higher susceptibility for acquiring the disease. 

Likewise, the recent findings of a large study from direct-to-consumer genetic testing giant 23andMe show a strong association between blood type and COVID-19 symptoms. This study also confirmed an association of a gene on chromosome 3 (SLC6A20) with a higher risk of severe illness. Furthermore, the researchers observed several risk factors for COVID-19 hospitalization including advanced age, gender, obesity, socio-economic status, as well as pre-existing respiratory and cardiometabolic conditions. 

Despite the growing importance of precision medicine in predicting, preventing and treating diseases, its role in the fight against COVID-19 has been limited. That’s hardly surprising given that big data is essential for developing a precision medicine-based approach and collecting such a vast amount of data might not be feasible during a rapid response to the pandemic. The previously mentioned large-scale analysis by 23andMe was possible after more than 6 million individuals from the company’s customer base were contacted to participate. Only 1 million took part in the study. 

But imagine if genetic data, clinical data, and information from wearable devices of an entire population were already integrated into electronic health records where artificial intelligence (AI) and machine learning could be rapidly applied to understand disease risk. This could provide us with valuable insights on how to identify, shield and protect those who are extremely vulnerable during the early stages of a pandemic. Doing so would even allow us to develop an ethical framework to prioritize resource allocation when health resources are limited. 

Following years of investment and careful planning, Qatar is among a number of countries well-positioned to implement such a strategy to confront future epidemics. Each has established genome projects to sequence the DNA of their entire population. However, during times of rapid response the ability to quickly access and analyze relevant health data in real-time is vital. Therefore, a strategy to accelerate the incorporation of genomic data in electronic health records is urgently required. Patient data from these centralized repositories can be rapidly deployed to identify disease risk when an outbreak occurs. This would help us predict the most vulnerable among us who require continued care and support. 

There will undoubtedly be privacy concerns and difficulties in the informed consent process when implementing such approaches. The onus is on governments, international organizations and regulatory bodies to develop innovative ways to overcome such challenges while still safeguarding our genetic and clinical data. The COVID-19 crisis has, after all, shown us that timely and accurate data is more important than ever.   

We should always remember that a future pandemic is a matter of “when” and not “if” and that our overall response to COVID-19 should inform our preparation for the next outbreak. Digitalizing healthcare and implementing precision diagnosis and rapid risk assessment at scale can help ease the burden when the worst happens.

Dr. Nady El Hajj is an assistant professor of Genomics and Precision Medicine at the College of Health and Life Sciences at Hamad Bin Khalifa University.

 

Hamad Bin Khalifa University

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