Why Prioritizing Genomic Research Is Critical for The Future of Healthcare

Contributed Commentary by Said Ismail

April 23, 2021 | Over the past 20 years, the field of genomics has undergone significant progress and transformation. We are at an exciting juncture in this field; however, there is more to be done to ensure more equitable access to technologies and support researchers around the world. The global fight against COVID-19 has highlighted the promise of genome sequencing, but its reach extends well beyond this pandemic. I believe the case for prioritizing global genomic research that can help all populations is clearer than ever before.

COVID-19 Demonstrated the Value of Genome Sequencing

As we have seen, the rapid spotting of new variants of COVID-19 using widespread viral genome sequencing has proven to be successful, especially in identifying new variants in places where genomic testing is prevalent. When combined with using genomic testing as part of a test-and-trace program, it can also yield to more effective containment. For example, countries like New Zealand and Singapore have deployed genomic testing heavily and used it as part of the effort to contain the virus, not just to surveil it.

Even in a small country like Qatar, where I serve as Director of the Qatar Genome Program (QGP), we have developed the capacity for genomics over the past five years and recognize the importance of this field, especially genomic testing. Despite the powerful contributions that genome sequencing has made as we continue to combat coronavirus, there are many things our community can be doing to ensure the next 20 years are productive and continue to have an impact on society.

Ethnic Diversity is Critical For the Future of Genomics

To date, most of the work has been done around Caucasian populations. As we move forward, it is critical to dedicate more resources in research targeting diverse ethnic populations to make sure the benefits of genetic research will be relevant to them.

Members of my team at QGP, alongside researchers at Qatar Foundation’s Hamad Bin Khalifa University (HBKU) and Weill Cornell Medicine-Qatar (WCM-Q), recently published the first peer-reviewed and largest genetic association study in the Middle East, which identifies genetic associations with 45 clinically relevant traits in the Qatari population.

This study demonstrates how today’s genome datasets hugely overrepresent Western populations and therefore do not accurately reveal the genetic architecture of diseases affecting Arab populations, who represent over 400 million people around the world. This underscores the value of studies of genomics within smaller, country-specific populations, and further research to better understand the potential for disease in the region, and the proper diagnoses to treat them.

Democratizing Genomics Will Lead to Greater Access

Thanks to new technologies, genome sequencing costs have rapidly declined, enabling its spread to researchers around the world. This decline in costs has also made it possible for institutions in emerging economies and regions to play increasingly important roles in developing and deploying applications for genomic testing, broadening the scope of what is possible in this field while increasing access for their respective populations. For example, you can sequence a whole genome now for well under $1,000. Not long ago, parents of children with rare diseases could be spending more than that just to sequence minute stretches of a single target gene. 

How We Can Continue Advancing Genomic Research

To ensure that this field stays cost effective, and that as many researchers as possible can move their studies forward, we need a global redoubling of investment in genomic research. Such investments will help us to secure the gains in understanding made through this most recent global crash program of research around COVID-19 and take it further. What does that mean exactly? Further investment would allow us to advance medicine applied to improving patient and population health across a whole range of conditions, from autism to cancer. For example, pharmacogenomics (PGx) is another instance where genomics can have a significant impact on budgets of national health care systems. Its implementation will assure that the most suitable drugs are prescribed to right the patients and at the most effective doses. Because genome projects can produce large data and make breakthrough gene discoveries, the field of genomics holds so much potential to improve global healthcare and how we practice preventive medicine, so we can detect disease earlier and improve outcomes for all populations. 

Dr. Said Ismail is the director of the Qatar Genome Programme (QGP), one of the major national programs in the region. He obtained his Doctor of Philosophy (PhD) from the University of Oxford and has work experience extending into various fields including research, education, and consultancy. As a research fellow at University College London (UCL), Dr. Ismail served as a consultant to several regional and international pharma and biotech companies. Dr. Ismail is especially interested in promoting research among young students and researchers in the Arab world. He launched one of the largest efforts to enhance the Arabic medical and scientific content on the internet; The “Bel-Arabi” or “In- Arabic” initiative. He is also a board member of the Phi Science Institute, which aims to spread creative sciences and research among youth. He can be reached at saismail@qf.org.qa.