Over 95 per cent of available genome data currently comes from Europe and the USA. Dr Said Ismail – ‘father’ of the ground-breaking Qatar Genome Program (QGP) – explains how technology is helping advance the study of Qatari and Arab genomes and unravel the secrets of human genomes at large scale. As he explains to Bioscience Today, “You cannot claim that you’ve understood the human genome unless you study representative groups from all around the world.”

What is the Qatar Genome Programme?

The Qatar Genome Programme (QGP), part of Qatar Foundation, is a pioneering research initiative designed to investigate the genetic composition of the Qatari population, aiming to usher in a new era of precision medicine (a medical approach that customises healthcare decisions based on an individual’s genetic characteristics) and personalised healthcare. The ambitious programme utilises data from participants recruited through Qatar Biobank and analyses around 40,000 genomes – solidifying its position as a worldwide leader in conducting extensive research of this nature.

In 2015, the first genomes belonging to Qatar Biobank participants were sequenced in collaboration with Sidra Medicine, signalling the largest sequencing operation in the Middle East at the time and placing QGP within the “Premier League” of international large-scale genome projects.

How big is the study (population-wise) and what makes it unique?

The QGP boasts an impressive database that comprises, so far around 40,000 whole genomes and is dedicated to encompassing and meticulously examining the genetic diversity of Qataris and Arabs hailing from the Middle East and North Africa.

 Currently, it can take 10 hours to sequence a genome, as opposed to 20 years ago when the genomes took almost 10 years. This is a unique technology evolution pattern which will continue to develop.

The significance of this programme also extends beyond its size; it lies in its dedication to bridging the genetic knowledge gap in the Middle East, a region inhabited by over 400 million people but historically underrepresented in genome sequencing initiatives.

Why is it important to establish this database?

The Middle East, with a population exceeding 400 million people, represents one of the world’s most ancient and historically inhabited regions. Paradoxically, it remains one of the most under-represented regions in terms of genome sequencing endeavours.

By piecing together the genetic puzzle of the Middle East, this initiative contributes to unveiling the complex tapestry of human genetics that defines the allelic spectrum of the global population.

The programme promises to uncover unique genetic insights and mutations that can be instrumental in identifying disease risk factors, facilitating early diagnoses, and tailoring healthcare interventions to specific genetic profiles. As the dataset expands, the concurrent development of advanced AI tools becomes paramount to harnessing the full potential and benefit of sequencing these extensive genomes.

What particular healthcare and social needs are being addressed by this project?

Uncovering the genome landscape of familial cancers prevalent in the Middle East is greatly facilitated by the QGP. It provides an extensive and profound understanding of precision medicine within healthcare professions and extends its impact to the broader community, paving the way for highly tailored and effective healthcare interventions.

Allowing precision medicine to be more accessible in healthcare professions and the broader community, the programme can support the tailoring of medical treatment and healthcare interventions to the individual genetic makeup of patients, which can enhance treatment effectiveness and minimise potential side effects. This personalised approach not only holds the promise of improving healthcare outcomes but also empowers individuals to take proactive steps in managing their own health.

Have any distinctive gene variants been identified – and any unexpected outcomes?

Distinctive gene variants have been identified by the QGP, including millions of previously unreported variants, uncovering novel genetic signals specifics to the Qatari and Middle Eastern populations, providing valuable insights into the genetic makeup of the region. These findings have implications for precision health and the understanding of diseases in this ethnically diverse population.

How will your work influence the advancement of personalised healthcare across the world?

The QGP’s ground-breaking research carries the potential to significantly influence the trajectory of personalised healthcare on a global scale.

By unravelling the genetic intricacies of specific populations and pioneering precision medicine approaches, this initiative sets a precedent for tailoring healthcare interventions based on individual genetic profiles, ultimately enhancing the effectiveness of healthcare strategies worldwide.

As the QGP continues to generate insights and discoveries, it has the potential to shape international healthcare practices and contribute valuable knowledge to the global scientific community.

Where are the findings published?

The QGP’s research findings have been published in prestigious scientific journals, including our notable ‘Mapping the Arab genome’ paper in Nature Genetics. As the programme continues to make advancements and discoveries, it will likely disseminate its findings through reputable scientific channels to contribute to the global scientific community’s knowledge base.

During the COVID 19 pandemic, QGP put its resources at the disposal of the national response groups in Qatar and facilitated the sequencing of thousands of viral genomes which enabled researchers in Qatar to produce a series of world first reports on emerging variants and the efficacy of different vaccines against them. We were also part of the largest international research consortium looking into why people get varying response to this viral infection, the Covid 19 International Host Genetics consortium.

Any other comments?

In coming years, we will be focusing more on translating our research findings into the clinical practice. We have already launched several pharmacogenomics pilots where patients are now receiving point-of-care genetic testing influencing treatment decisions in real healthcare settings.

We are also establishing a referral mechanism whereby we identify individuals at risk of familial forms of breast cancer from within our research cohort into the right clinical pathway within partner hospitals. This will be replicated for other forms of familial cancers as well as other actionable genetic findings. These are only some examples of how we are working closely with our national stakeholders to achieve our vision of making Qatar a model in the implementation of precision health.

Qatar Genome Program (part of Qatar Foundation) is one of the MENA region’s largest genome sequencing initiatives.