Through the Qatar Genome Program, genetic scientist Dr. Radja Badji hopes to bring valuable health insights to the Arab world, a population with increased prevalence of rare diseases.
When we consider measurable factors, genetics contributes to 25% of our overall health, making it the greatest predictor of risk aside from social and economic disparities. Understanding genetic makeup – from individuals to large populations – can provide a wealth of insight in understanding the risk of developing a disease, which could be harnessed toward improved health outcomes. And with the technology available today, all a geneticist needs is a blood sample to sequence a genome.
For Dr. Radja Badji, Genome Operations Manager at the Qatar Genome Program – a large-scale effort to build a database of genetic insights from the population of Qatar and other Arab countries – this information is invaluable to the health of everyone in her country. She hopes the database will enable Qatar to practice a more personalized approach to healthcare, and to better diagnose, treat and prevent many diseases.
“Predictive genomics is a very important aspect in terms of prevention, because genetics are a fixed component. We are born with this luggage, so we can predict risk,” Dr. Badji said. “Compared to the traditional approach, where we use clinical or lifestyle symptoms to predict risk, when it may be too late for effective prevention.”
Fighting rare disease in Arab countries
Dr. Badji and her team in Qatar know that there are big opportunities for discoveries related to rare diseases in the region, because of the specificity of the dataset and the history of the population.
“There is a high level of consanguinity and history of migration and trade out of this region, which unfortunately makes some rare diseases prevalent in the country, but it gives big potential to shed light on the genetic components of these diseases,” Dr. Badji said. “It will really put the country at the forefront of science because we are closing a gap in studying an underrepresented population in genetic studies.”
Since the program first launched in 2015, researchers in Qatar have made significant progress, sequencing more than 33,000 whole genomes across the population. “By 2025, we will move to the population phase in our program where whole genome sequencing will be offered for every citizen for research or clinical purposes,” Dr. Badji said.
Enabling research through microarrays customized to a specific population
When the program started, the team relied on next-generation sequencing to discover the whole breadth of genomes in the region. But when the project gained momentum and they were looking to scale up to a population level, the team required tools that could genotype a larger number of people and provide an infrastructure for large-scale analysis and data generation while being mindful of cost.
“We hoped to create a cost-effective tool that may enable large genome profiling projects in the county, or in the Arab region in general, because we believe that most Arab countries cannot afford large genome programs,” Dr. Badji said. “The microarray was the best option.”
Today, the program uses Applied Biosystems™ genotyping microarrays for two projects. The first is the Qatari gene chip, or Q-chip – a custom-designed array used as a screening tool for the most prevalent rare variants in the country. The second is a custom-built whole genome genotyping array which intends to maximize imputation accuracy across the whole genome for Arab samples.
As the project moves closer to the population phase, “a main challenge is to get people to join the program, to build trust, and to streamline operations,” Dr. Badji said. “We have a network of scientists inside and outside the country for analysis, so we are looking to collect a big dataset of high quality to make it available for research.” The outcome of this dataset can help the program achieve its goal of precision medicine for personalized healthcare.
Building a future focused on better health through prevention
Dr. Badji is an advocate for offering predictive genomics to everybody at an early age, but she cautions that there is still work to be done on analysis. For this practice to be most effective, healthcare needs to combine information about lifestyle and patient history to understand risk or prognosis if the disease is already present. It will require an integrative approach.
“What inspires me to do this work are my kids, or all children, because I feel that we can contribute to a better future and better health,” Dr. Badji said. “I always feel that the more we know, the more powerful we become.”
Watch the full video interview with Dr. Badji and learn how other scientists around the world are advancing genetic research using Applied Biosystems technologies.