In Focus

An insight into the Path towards Precision Medicine call with Dr. Sadim Jawhar

Qatar National Research Fund, in collaboration with the Qatar Genome Program, launched the first cycle of the Path towards Precision Medicine in 2015 to support genomic research in Qatar. Let's learn more about this call and its contribution towards building an impactful precision medicine infrastructure in Qatar by Dr. Sadim Jawhar, who is currently working as a joint funding program manager at QNRF.

1. What is Precision Medicine, and why is it gaining more interest worldwide?

Precision Medicine (PM) is an evolving healthcare model that relies on tailoring the medical treatment to patients based on their characteristics, including their genetic background, lifestyle, and environmental factors.

This model moves beyond the classical "signs-and-symptoms" approach, which provides one treatment for all patients. As we all know, patients with the same disease might respond differently to the same treatment or even require different treatments or doses due to their individual characteristics. This represents the concept of precision medicine which starts from risk assessments for genetic factors, lifestyle, and treatment to prevent the occurrence of the disease, detecting the disease at an early level, using accurate diagnosis methods to allow for personalized treatments, offering individualized treatments to maximize the benefits and reduce the side effects, and finally managing the treatment and disease progression.

The current peaking international interest in PM is attributed to its various healthcare, economic and social impacts. This can clearly be seen in the increasing number of PM strategies, PM-focused research institutions, and the increasing number of funding opportunities worldwide. Besides, many PM contributing hubs have been established worldwide, such as biobanks and large-scale genomic initiatives.  Such efforts have resulted in an increase in the number of regulatory-approved targeted therapies and gene expression molecular tests.

2. Can you tell us when was the first cycle of the Path towards Precision Medicine launched, and what was the motivation behind it?

The Path towards Precision Medicine (PPM) is one of our first joint funding calls. It is a joint effort between QNRF and Qatar Genome Program (QGP) and we are currently in the fifth cycle of the call, building on the success of the previous cycles. The first cycle saw the light in 2015 after extensive study and evaluation for the international and local ecosystem, which involved input from international and local experts in the field. This exercise helped us understand the local research needs and opportunities and design the call to address them in the best way.

This collaboration between QNRF and QGP brought together two main stakeholders in Qatar in this field. QNRF plays a crucial role in enabling research addressing Qatar’s grand challenges and goals in the biomedical and healthcare sectors. In light of this, the PPM call helps to guide PM-related research in Qatar.

On the other hand, QGP is the national hub for genomics and biological datasets for the Qatari population and spearheads the implementation of advanced PM in Qatar. Therefore, this partnership aims to put Qatar in a leading position in genomic medicine research by moving closer to direct clinical impact in disease genomics and clinical implementation via capitalizing on the invaluable data generated by QGP.

3. What is the role of PPM in helping Qatar develop a world-class precision medicine infrastructure in Qatar?

In a country like Qatar, with a small population, high incentives for research, and a high commitment to providing the best possible healthcare; research that sets the ground for precision medicine represents an essential need and opens the door towards economic opportunities. To that end, Qatar is one of the first countries in the region to appreciate the importance and potential of investing in Precision Medicine. The PPM call reflects one of the earliest steps in that direction.

Since its launch in 2015, the PPM call has brought together researchers in genomics and other related fields and integrated healthcare programs, all of which represent fundamental components in the way to precision health.  As more PPM research projects get awarded in every passing cycle and start to generate deliverables and outcomes, the local PM initiatives have started advancing from various perspectives, including research findings, data sets, human capacity, research networks, and research infrastructure.

4. Can you tell us a bit more about the past cycles of the PPM and their impact?

Since the first cycle of the PPM call, we have made sure that we employ a dynamic approach in designing each cycle according to the changes in the research ecosystem. Along with our partners, we ensured that the research areas for each cycle were updated to reflect the evolving needs of PM in Qatar and avoid duplication or over-saturating other areas. This is periodically performed through the guidance of a steering committee of local and international leading stakeholders in the field, which assists by giving their recommendations each cycle.

The past cycles have been fruitful in enabling high-quality awarded projects, which have generated and are still generating major achievements and progress in PM research in Qatar. For example, an awarded project studied the genetic variants associated with neuromuscular disorders in Qatar and related biomarkers. Another project investigated the environmental versus genetic roots of familial diabetes in the country.

Another exciting project outcome was the establishment of the first- high-resolution Arab population single variant mutations map and delineating many single variant mutations causing chronic and rare diseases in Qatar. While another project managed to identify genetic associations with 45 clinically relevant traits from the Qatari population using whole-genome sequencing. Similarly, an awarded project studied the saliva microbiome composition as a predictor for cardiovascular diseases and type 2 diabetes.

In addition to biological research, the PPM call has enabled projects aimed at empowering patients, researchers, and medical providers to support PM. A good example here is a project about the intersection of genomics and the related ethical and legal implications in the context of Islamic and Arabic cultural values central to the lives of people living in this region. Again, these are just some examples and there are many other significant projects.

5. How has the importance of precision medicine in the context of the global coronavirus pandemic increased?

Over the past two years, we have witnessed that individual patients reacted to the same COVID-19 infection with different severity, symptoms, and even susceptibility. This certainly can be influenced by the individual's health conditions, lifestyle, age, or other environmental factors. Nevertheless, emerging research data shows that individuals' genetic makeup might play a role in the differences in the clinical implications of COVID-19 infection. Furthermore, our understanding of the complex immunological interactions is boosted by the rapid advancement of the high throughput of genomics and other omics technologies.

Here, PM could play a crucial role in identifying high-risk individuals and may provide better targeted and preventive approaches, which should go in parallel with the public health measures. This need and opportunity have been depicted in the last cycle of the PPM call. Thus, Genomics/Multi-omics characterization of immune responses was listed as one of the research areas in our latest cycle.

6. Can you share with our readers the research areas of the latest cycle?

Previous PPM calls have focused on research priority areas such as discovery research at various omics levels in addition to translational research. There was also a focus on community engagement, ethics, and policies related to precision medicine. While the fifth cycle aimed at research projects that have a direct clinical impact on disease genomics and clinical implementation. Guided by the Qatar Research, Development and Innovation Strategy, PPM5 focused mainly on congenital and rare genetic disorders, diabetes and its complications, mental and neurological disorders, cancer, cardiovascular disease, and PM of communicable diseases in Qatar.

To be specific, PPM5  is focusing on the following areas:  Clinical genomics of pediatric disease; clinical implementation of pharmacogenomics; genomics/Multi-omics characterization of immune responses; and precision medicine digital e-solutions and applications.

We encourage our researchers to benefit from the PPM call and make the most of the facilities and resources offered by the Qatar Genome Program and Qatar Biobank to tackle evolving challenges and develop innovative solutions in the field of precision medicine in Qatar.