Doha, Qatar, 19 May, 2024: How will Qatar Foundation’s Qatar Precision Health Institute (QPHI) – an umbrella institute bringing together existing strengths in the field of health sciences and genomics within Qatar Biobank and Qatar Genome Programme – impact the country’s precision health ecosystem? “The way I see it, Qatar Precision Health Institute will be orchestrating the development and delivery of precision health across the country,” said Dr. Tawfeg Ben-Omran,

Division Chief, Genetics and Genomic Medicine, Sidra Medicine – a member of Qatar Foundation. According to him, with several entities working in the field now, including Sidra Medicine, Hamad Medical Corporation, Qatar Genome Programme, Qatar Biobank, what was needed was one body that could streamline efforts being made across these entities on a national level. “A central body was needed to avoid duplication, enhance collaboration and ensure optimum utilization of resources, and I see QPHI doing just that and being a pivotal player in ensuring a healthier future for the country.” When asked, how he sees precision health impacting the healthcare landscape of the nation. He said: “Among the first and most impactful areas will be the diagnosis and treatment of rare genetic diseases.” He went onto explain that traditionally people battling rare diseases have gone through what’s called the ‘Diagnostic Odyssey’ – a term used to describe the long and difficult

journey that patients and their families undertake to receive an accurate diagnosis – a journey that takes, on average, 5.6 years. “However, with the advent of precision medicine and the incredible power of genomics, this journey has been reduced to weeks, and in some cases days. This decrease in time is truly life changing for the patients. Not only does it greatly reduce their diagnostic odyssey, but the early detection and early treatment exponentially increases the success of treatment and their quality of life,” said Dr. Ben-Omran, who also serves as a Senior Consultant in Hamad Medical Corporation’s Department of Medical Genetics.

Doctors are no longer treating symptoms as precision medicine allows them to treat the patient. “In simple words, looking at their genome gives us insight into exactly which gene is causing the disorder, or that based on their genetic makeup how they would react to certain medication. The same medication can be effective to varying degrees and, in some cases, even cause adverse reactions – the secret of all this lies in the genes.” Giving a concrete example of the power of precision medicine, Dr. Ben-Omran recalls a family that was treated at Sidra Medicine, the couple’s first child started showing signs of loss of mobility at approximately four months of age and was later diagnosed with Spinal muscular atrophy (SMA) – a rare hereditary genetic condition in which muscles throughout the body are weakened because nerve cells in the spinal cord and brainstem do not work properly.  “We were able to diagnose the child and he was given gene therapy in which a new, working copy of the survival motor neuron (SMN) gene is administered in a one-time infusion. The intervention was successful – the muscles affected before the treatment

was administered can’t be recovered but the progression of SMA is stopped,” said Dr. Ben-Omran A few years later, the same couple was expecting another child. They were proactive and had the genetic analysis of the baby done before birth. Results confirmed that the second child would also have SMA. “However, in the case of the second child because the diagnosis was prenatal, the gene therapy was administered before the child developed any symptoms. Because of the early intervention, the child today is over two years old and is healthy. With the power of precision medicine, we were able to change the natural course of a lethal disease – a disease that is known to be the number one cause of infant mortality,” said Dr. Ben- Omran. “This case is a testament to the power of precision medicine. A precise early diagnosis,

early intervention and precise treatment, resulting in something that could only have been imagined a decade ago, but today it is possible, and it is happening right here in Qatar.” With medication being a big part of precision health, when asked where Qatar stands when it comes to drug development, Dr. Ben-Omran said: “Traditionally, our region has been a receiver when it comes to medication. However, the tide is now changing, pharmaceutical companies are now approaching us to be part of clinical trials, particularly when it comes to genetic medication.

“It is worth noting that it is because of the tireless efforts of the likes of Qatar Genome Programme whose work has proved that the Arabs have a unique genetic makeup, and they react differently to drugs than Caucasians, that this incredibly impactful change is happening – instead of us approaching pharmaceutical companies, they are now approaching us.” Concluding, Dr. Ben-Omran noted that for precision health to benefit the country to its full potential, individuals will play a key role.

“We need people to take responsibility of their health, to be proactive, because with genetic diseases early detection is key – every day matters. For example, when people are doing premarital examinations and if tests show their children could be carriers of certain genetic diseases, then these parents should consider invitro fertilization as this will allow doctors to choose a healthy embryo to be implanted and allow the couple to