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A Spotlight On: Genomics in Qatar – Said Ismail, Director of Qatar Genome

Said Ismail is the Director of Qatar Genome, a national programme trying to spearhead Qatar’s vision to become a pioneer in the implementation of precision medicine. Said talks about implementing genomics into clinical settings, public engagement and what is unique about genomics in Qatar.

Please note the transcript has been edited for brevity and clarity.

FLG: Hello everyone, and welcome to the latest “A Spotlight On” interview. Today I’m joined by Said Ismail and we’re going to be talking about the genomic landscape in Qatar, including the Qatar Genome Programme. So Said, if you could please introduce yourself, and tell everyone a little about what you do.

Said Ismail: Hi, my name is Said Ismail, I’m the Director of Qatar Genome. We sequenced our first genome in 2015, and now we have just passed the mark of 32,000 whole genomes. We are basically a national programme trying to spearhead Qatar’s national vision to become a pioneer in the implementation of precision medicine. Qatar is a small country, but has a focus on biomedical research, and it has one of the best health care systems in the region, and they aspire to be leaders in genomic personalised or precision medicine. In the past five years or so, we’ve sequenced as many genomes as we can, for Qataris and others from the region. We’ve made those genomes available to researchers, and now in the next five years, we’re going to shift focus from being a research programme into a more of a disease programme, with more focus on the implementation side. So, that is a quick overview about what we’ve done in the past few years and where we are going in the future.

FLG: Perfect. Thank you so much. Can you provide us a brief history of genomics in Qatar more broadly, how has this project evolved?

Said Ismail: There was a vision by Her Highness, Sheikha Moza Bint Nasser in 2013/2014. Actually, around the same time when Genomics England were also launching their own programmes, we launched around a year later. We are not in a unique situation, so many countries around the world have realised that this is the future and that the one-size-fits-all sort of medical practice is no longer the way forward in providing healthcare for people around the world. So, we realise that we have first to digest, to understand, to unravel, the genomic makeup of this population that are living in a genomically underrepresented part of the world. No one has done studies at this scale, and so, we thought that we should do it. So again, that vision of Her Highness with the Qatar Foundation and the launch of the Qatar Biobank, came together to produce this large scale genomic data, which of course is associated with deep phenotypic data and access to clinical records from tens of thousands of participants. Also, we want to make all of that data available to researchers and other international collaborators. So, we like to think of ourselves as another small Iceland, but in the Middle East, a small population that has never been studied at this scale. And, the chances are, if we get this data, we can make things happen faster at the implementation level, because it’s one healthcare system, and moving from “bench to bedside” should be easier. So this is our story, basically.

FLG: The Middle East is a historical crossroad for human civilization and migration that’s often been missed in previous genomic mapping. So, what is the importance of ensuring we’ve got that diversity in research? What are some of the challenges we’re facing in this regard?

Said Ismail: Spot on Poppy, because the Middle East is not just one of the geographies around the world where we lacked genomic data. No, this part of the world is at crossroads of civilisations, one of the most ancient and populated parts of our world, actually, we call it in one study “the first cradle for humanity out of Africa.” When human beings left Africa, the first place they went to was the Arabian Peninsula. They stayed there for maybe 100,000 years, and then they left to Asia, Europe and other places of the world. And of course, they kept coming back, so it’s not just one way. This place carries a lot of our history as a human race. We’ve actually published some papers last year just around that, and that’s one fascinating aspect away from the medical implications that you can discover about our journey of human migration at large. So yes, we are covering this huge part of the world extending from the Atlantic Ocean, Morocco, all the way to the Gulf, Qatar, Iraq, and going north to the Levant, and as south as Eastern Africa. 400-500 million individuals live in this part of the world and they have been largely underrepresented genomically, and this is why we think that we always have this responsibility of representing not only our Qataris, but the whole Middle East.

FLG: What are some of the challenges that we’re seeing in getting this data in this diversity?

Said Ismail: Challenges were at the preparatory sort of initial stages, where you are about to build the state of the art infrastructure. Leadership decided that early on that everything should happen in Qatar, from the sample data collection and phenotyping, all the way to the whole genome sequencing, bioinformatics work and the research efforts as well. So, putting all these elements together was a bit challenging, but once all the pieces were in place, I think we sort of started to see things delivering, especially in the last couple of years. One of the most important parameters is the high impact papers that we’ve managed to publish on behalf of this population in 2021 and 2022.

FLG: Can you tell us about some of these significant insights you’ve gained so far? I know you’re in the early stages.

Said Ismail: So we’ve published a series of papers, for example, on the landscape of mutations causing familial cancers in this population. We published a paper on the population structures and the various ethnic groups that are there. We published something on the landscape of pharmacogenomics variants in this part of the world and in this these populations. We also published the largest genome wide association studies (GWAS) for dozens of different traits.

During COVID, we were also able to contribute to the global efforts. We at Qatar Genome, for example, were part of something called the HGI, the Host Genetics Initiative, one of the largest international consortia. We studied why some people get COVID and are asymptomatic, whilst others need admission to ICUs. We all knew the answer was going to be genetics, but what we wanted to find was which genes are responsible for the severity of the disease, and we discovered that by coming together from all parts of the world. We were the only representative in this consortium from outside Western Europe and North America, and we’ve been told that out of the fifteen genes identified, two of them wouldn’t have been if the cohort didn’t have this diversity. So yes, we were covering the basic research on behalf of this part of the world, but we also taking part in international consortia addressing the big questions.

FLG: What are some of the future plans, whether that is Qatar focused or with further international collaborations?

Said Ismail: We’re now emerging with shifted focus with our partners at Qatar biobank and other elements from around Qatar. I think we’ve produced enough research data for research purposes, it’s about time now to try to translate some of these findings into implementation at the clinical sites. So, in the coming few years, say five years, we will be looking into initiating several pilots where we basically try to work with our colleagues on the clinical healthcare side of precision medicine. We are looking at how you can incorporate that into the clinic and the various clinical pathways. So we’ve already started pharmacogenomics pilots, and others, where we basically refer some of our participants carrying some actionable life threatening mutations to the healthcare system. Through these pilots, we will study what gaps are needed to translate work from research to the clinical implementation. Then once these pilots tell us what exactly the deficiencies are, we are going to expand and build upon that and basically go for that vision of being a pioneer in the implementation of precision medicine.

FLG: If we talk about Qatar more generally, premarital screening has been a legal requirement in Qatar since 2009, which implies a level of familiarity in the general population about Genomic Health. I know that a lot of the work you do with the Qatar Genome Programme also focuses on policy and educational work as well. So can you tell us more about some of the work you’re doing in increasing genomic literacy, education and your policy work?

Said Ismail: Absolutely. We like to think that we’re not just sequencing the genomes and making the way for research. Education is big on our agenda, and community outreach and engagement is also big. On the education side, for example, we have developed all sorts of different educational programmes that you can think of addressing children from early, actually kindergarten years, all the way to postgraduate levels. We have comics, where the superheroes are scientists and lab coats, that’s very difficult to sell, but we’re trying our best. Basically encouraging young generations to be the scientists of the future. We have all sorts of internship programmes for high school students and university students to come and see what we do.

On the community and engagement side, this is absolutely critical. We conducted this survey a couple of years ago, where we basically gauged what the public thought about us, and also what the healthcare professionals thought. We did this before we go into our final, larger scale phase where we are going to ramp up our sequencing operation. Those two big surveys have actually told us a lot, but most importantly, we know that people are intrigued about their genetic makeup. They want to know more, whether it’s because they have a relative or a friend with a genetic disorder, or whether it’s just because they have heard about genomics and the power of genomics, and how much our genes do affect our wellbeing in general. We discovered that people want to know about their genes, and they’re willing to go and test and even donate samples for research. But, it’s now informing them, it is not just taking that level of excitement about it, we are engaging with them and telling them exactly what entails. We all know that precision medicine is going to be more patient centred, that we’re going to bombard them with a lot of information that tells about risks, future risks, about their health, and they are going to be responsible for their reaction upon receiving such information.

Premarital testing is another very important aspect that we are actually addressing and discussing with healthcare authorities. It was introduced for huge genetic disorders. I can single out thalassemia, sickle cell anaemia and cystic fibrosis. But, now we know more about the genetic makeup of this population, and we can tell that there are actually some genetic mutations that are more prevalent in the society and not related to those three or four diseases that are being screened for. So, we are talking to the healthcare authorities and asking them if they would like expand this list, and if so, we can provide the information and the technology to make it possible.

FLG: So what are some of the challenges that you’re seeing in rolling out that genomics in the healthcare setting? Let’s lean into the policy side of the work that you’re doing in that clinical setting.

Said Ismail: These are global challenges. So whenever I talk to colleagues at Genomics England and other places doing similar work, we find the challenges are universal. It’s hard to change already established health and clinical pathways. It’s not that the healthcare professionals aren’t excited about what you are doing, they appreciate it. But, sometimes the policies and regulations are very rigid. Practising physicians and other healthcare professionals need to go out of their busy clinics and get the education and training needed to provide this service. From our healthcare professional survey, a lot of professionals were saying they needed genetic counsellors, for example. They know we can provide the technology, the data and the reports, but they don’t have the time, or the knowledge to put that forward to the patient. Sometimes it’s at the EMR level, the electronic medical records level and how to integrate such huge data, genomic data is huge. One genome is way bigger than thousands of medical records for so many people. So these are some of the challenges, but again, these are global challenges that we all have to address.

FLG: That’s really interesting and obviously every nation will have those nuances within their systems. You use the word bombardment earlier in regards to that amount of information that we can give patients, which on one hand can be very empowering, but the other hand can come with a wealth of responsibility over very complex information. How is the Qatar genome programme, and other organisations, going to start ensuring that literacy and the increasing amount of information is more accessible and useful for patients?

Said Ismail: This is incredibly important and if we just keep on producing this amount of data and working on the implementation side without realising the challenges, whether on the healthcare side or patients’ side, we might not get the results we want. Yes, I said that patients or individuals are interested in knowing more about their genomes, but when you start throwing things that do not make sense it does not help, for example, If you tell a patient they are more likely to get a certain disease than other people, they will ask “well what can you do for me?” There is no point just giving them an answer saying there is nothing we can do. We have to implement the infrastructure and procedures into the hospitals and clinics, before giving the information to the patients.

Also, how much information do we give the patients? For example, do I only give the patient information about being a carrier for BRCA 1, Lynch syndrome or colorectal cancer? Or, do I give them everything, which could overwhelm the healthcare system? There are a lot of questions that need to be answered first, for example, should professionals be more trained to prepare for this? Are more genetic counsellors needed to make it more comprehensible to the public? Is the healthcare system prepared? You have to start gradually, and you have to start with pilots, there’s no single easy quick way to do it.

FLG: Most humans are quite bad at understanding the concept of risk and probability, so it’s quite a battle on our hands. Following on from that, you’re aiming to hit 100,000 of the population to be sequenced by 2025. You’ve talked about the keenness of the population generally, I believe in 2020 approximately 71% of surveyed Qataris reported that they were willing to participate in genomic testing. So, what factors have you found influence people’s willingness to participate? And what are the factors that may make someone less willing to participate?

Said Ismail: What we can say is that 2020 is one point of time. As seen in other countries, the level of support can go down, and then you do something and you see it go up again. Initially people are intrigued, they want to know about their genes, but then they are worried about the privacy issues surrounding the data. As well as many other issues that affect such levels of support. We would be absolutely glad to get 71%, that is similar to what other major national programmes get. But to get that we need to keep engaging with the public in all sorts of ways, not only educating them, but also listening to their worries and listening to their questions. Just recently at a conference in England, I said, and everybody agreed, that we need translators. We scientists are not good, apparently, and letting people know what we do. No matter how good of a communicator one of us might think, we’re still not able to pass the message. So, we need people in the middle there to make it more simple to people. We’ve discovered during COVID that people don’t necessarily need to understand the complex nature of things. For example, if you asked me to explain what PCR was before COVID, I would just spend an hour trying to tell you exactly what happens in each cycle, but people don’t need to know that. Long story short, we need to keep engaging with the community, and we need to be able to talk to them and listen to what they want, and then feed that information back in a way that they understand.

FLG: Fascinating and so important to have that communication and transparency as well. If we move beyond precision medicine, which is a goal you’ve talked about, I know that some of the work you’re doing is also moving into more precision health and wellbeing, and smart health. Can you talk to us about some of that and your future plans there?

Said Ismail: So, Qatar Genome is part of Qatar Foundation, and Qatar Foundation just made precision health as one of its main themes. We are not only talking about the Genome Programme and the Biobank, but the whole ecosystem within Qatar Foundation should work around the main themes. The main added value of precision genomics basically is that you can do some prevention, it’s not just about tackling the problem when it happens, you have plenty of information that can enable you to do things about your wellbeing and health before anything happens. So precision health is becoming the buzzword more and more, rather than precision medicine. For that purpose, we started another pilot, we have so many of those. In this small pilot we basically designed a report what that tells you what food is good for you based on your genes. Caffeine metabolism is one part of the report – it tells you if you are a fast or slow metabolizer of caffeine. What sort of exercise suits you best and many other lifestyle wellness traits that we are conveying back to participants. We want to see how well received this is and if it leads to lifestyle changes or not. If it works, then we can look to expand this to pharmacogenomics or disease risks.

FLG: Thank you, I would be very intrigued to see how quickly we can start rolling that out. I guess that leads into one of my favourite questions, all of this is gathering more and more data. What are the current obstacles with all the data? And this will lead into my favourite question, how are your feelings about AI and its place in our genomic data?

Said Ismail: Oh, that’s the buzzword now. We have produced so much data around the world and plenty, way more, will be produced over the next five years as the cost per genome goes down. They’re talking about $100 or $200 genome already. That means more genomes, more big data, and digesting that data is not going to be possible without the parallel development of all AI tools that will enable us to see the benefit of this huge investment in sequencing all these genomes. AI is central to all that, and when you think about complex disease, not rare diseases, monogenic disorders, the real burden is in chronic disease, complex disease. Without AI, this is not going to be realised at all. I’m not an AI specialist, but I trust this is the way forward because when you have big data, you can’t wait decades to make sense of it, so you have to leave it to the machines to do it for you.

FLG: Absolutely, thank you. What are your hopes for the future, both in terms of Qatar, as well as the Qatar Genome Programme?

Said Ismail: Yeah, for Qatar the immediate hope is to see those little pilots on the clinical care implementation side moving on, and basically, working closer with our clinical partners. Globally, as others will join me around the world, is to see more diversity in genomic data, to see more genomes sequenced in other places around the world. When you say about $8,000-$10,000 per genome, this is inhibitory for most of us around the world. So, I would like to see more genomes from other parts of the world and basically putting more pieces into this puzzle called the human genome.

FLG: Thank you. And thank you so much for joining me today Said Ismail. I am looking forward to looking through your comic books – that sounds really exciting to see your geneticists in their superhero costumes, and I’m very excited to see how this field evolves in Qatar. So thank you for shining a spotlight on our talk today. Thank you for joining us.

Said Ismail: Thank you very much for the opportunity. Pleasure.

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