On A Mission To Make Precision Medicine Accessible For All

Dr. Ahmad Abou Tayoun, Director of Al Jalila Genomics Center at Al Jalila Children’s Hospital (AJCH), and Associate Professor of Genetics at the Mohammed Bin Rashid University of Medicine and Health Sciences, believes that precision medicine can only become mainstream once it becomes truly inclusive across the world. Here is what he’s doing to make sure this happens.

By Lily Lawes at Digital Ink Media

With his impressive global experience and academic background, Ahmad Abou Tayoun, PhD is a key player in genomics research in the Middle East. As Director of Al Jalila Genomics Center at Al Jalila Children’s Hospital (AJCH) in Dubai, as well as Associate Professor of Genetics for the Center for Genomic Discovery at the Mohammed Bin Rashid University of Medicine and Health Sciences, the UAE based clinical molecular geneticist is on multiple missions to ensure that no child goes untreated. At present, Dr. Abou Tayoun heads up clinical and research programmes which are part of global efforts to characterise “normal” and “disease causing” variations in the human genome, establish genomic standards and guidelines, and create a more representative reference genome – or pangenome – as well as preparing to fight future pandemics. His clinical work at AJCH reinforces the hospital’s mission that every child, regardless of geographic or socioeconomic factors, has an equal opportunity for success in life.

“As a clinical molecular geneticist, my role is to provide genomic diagnostics services to support all paediatric specialties at AJCH. We mainly focus on rare diseases, and we offer comprehensive genomic testing, including rapid whole genome sequencing, whole exome sequencing, targeted disease gene panels, chromosomal microarrays, and targeted assays for methylation and repeat expansion disorders,” Dr. Abou Tayoun explained. “Besides genomic testing, our Genomics Center of Excellence offers genetic counselling services that educate families on types of genomic tests and helps them understand how genetic conditions might affect them now and in the future.

“The team consists of American board-certified clinical molecular geneticists and genetic counsellors, genomic analysts, bioinformatics scientists, and molecular biologists.”

PMES 23: TALKING GLOBAL GUIDELINES IN DATA INTERPRETATION

During PMES 23, Dr. Abou Tayoun provided an update on the upcoming standards and guidelines for genetic sequence variant interpretation on behalf of the American College of Genetics and Genomics, the College of American Pathologists, the Clinical Genome Consortium (ClinGen), and the Association for Molecular Pathology (AMP) workgroup.

This work, which has been ongoing over the past few years to update the previous guideline published in 2015, aims to provide guidance to the genomics community on how to clinically interpret variants identified through genomic sequencing in clinical and research settings.

Elaborating on his presentation, Dr. Abou Tayoun stated: “The guideline is moving toward a more objective quantitative approach, which will not only lead to more accurate interpretation, but also facilitate the automation of this cumbersome process.” Noting how important this update is to precision medicine, he added: “This work has a major impact in our field as can be seen from the previous guideline which was cited almost 20,000 times since 2015!” Dr. Abou Tayoun stressed that the update to the standards and guidelines will guide more accurate genomic interpretation and reduce misdiagnoses, while also facilitating the automation of this process and making sense of the vast amount of data downstream of genomic sequencing, which is currently a major bottleneck in the field.

A MERGER OF ALIGNMENT WITH DAHC

Given its role in transforming paediatric care in the UAE, the AJCH was one of the entities brought under the recently-formed Dubai Academic Health Corporation (DAHC), which aims to advance health services in the emirate through a new academic system that integrates patient care, medical education, and scientific discovery. As part of its mandate, the Corporation seeks to “improve the efficiency, quality, and accessibility of Dubai’s healthcare services in accordance with the highest standards and best practices.” It will also seek to strengthen Dubai’s leadership in academic education and scientific research in medicine and health sciences, as part of the broader strategy to strengthen the knowledge economy. The establishment of the DAHC is set to strengthen the emirate’s position as a global hub for medical and life sciences.

“AJCH has always been committed to understanding the genomic landscape of rare diseases in the Middle East and bringing novel diagnostic tools to patients in this part of the world. The opportunity to work with DAHC, with the ultimate aim to enhance the quality of paediatric care in Dubai, has generated much excitement - and we look forward to progressing the journey,” Dr. Abou Tayoun continued.

RAPID WHOLE GENOME SEQUENCING AT AJCH

Diving deeper into his work at AJCH, Dr. Abou Tayoun shared an update on the hospital’s agreement with Illumina to introduce rapid whole genome sequencing for critically ill children in the Middle East, which was signed in November of 2022.

“As part of this agreement, babies with varying medical conditions in the NICU [neonatal intensive care unit] will be offered a rWGS [rapid whole genome sequencing service] for free over the next two years,” he said, stating that this will benefit around 200 families. “The service will include the return of results to patients and caring physicians within 48-72 hours so they can use the genetic information to better care for patients in this setting.

“While we will be benefiting a lot of families throughout the duration of this study, the long term goal of this project is to generate necessary data demonstrating the clinical and economic utility of this service in the ICU setting,” he added, referring specifically to diagnostic yield, feasibility, impact on treatment and management, and avoiding unnecessary diagnostic workup, among other advantages.

GENETIC SCREENING FROM THE CUTTING EDGE

Further news from AJCH includes a pilot newborn genetic screening program for spinal muscular atrophy (SMA) over the next 2-3 years. Speaking of the initiative, Dr. Abou Tayoun said: “We will be offering genetic screening for 6,500 Emirati newborns for SMA, a life-threatening disease if untreated, and for which there is currently one of the first gene therapies. The goal of this project is to estimate the incidence, prevalence, and carrier frequency of this disease in the UAE population.

“This information will generate data to guide national newborn and/or premarital genetic screening programs for SMA as a prototype for many other rare diseases in the Middle East, which is expected to have a high prevalence of recessive diseases due to the higher proportion of marriages among relatives. In addition, early identification of affected babies will be key for more efficient gene therapy, which is extremely expensive.”

Other collaborations include projects to translate the latest technologies for clinical use for patients, such as with Oxford Nanopore to demonstrate the utility of long-read sequencing in rare disease diagnostics and joining forces with ThermoFisher Scientific and Gulf Scientific to assess the utility of pharmacogenomics in paediatric settings.

AJCH: THE UAE’S FIRST DEDICATED CHILDREN’S HOSPITAL Part of Dubai Academic Health Corporation (DAHC), Al Jalila Children’s Hospital (AJCH) is the first dedicated children’s hospital in the UAE, established under the directives of His Highness Sheikh Mohammed Bin Rashid Al Maktoum, Vice President and Prime Minister of the UAE, and Ruler of Dubai. The pediatric medical facility was created to affirm His Highness’ belief that all children should have an equal opportunity for success in life, and that a child’s treatment of an illness should not be subject to geographical chance. AJCH’s 200-bed family-friendly medical facility is customised to eliminate any stress or anxiety that might affect children in a traditional hospital environment. Patients are able to enjoy glow-in-the-dark wallpapers and screens with cartoon characters on the ceilings to provide children with a stress-free setting during scans and x-rays. The hospital design includes open spaces for children to participate in outdoor activities and several other child-friendly elements. Within each patient room, an interactive touch screen enables children to remain in contact with family and friends, play online games, access social media and educational portals when required. As a paediatric hospital, AJCH is equipped with numerous facilities that allow children to continue their education, such as a dedicated study space in every inpatient room and private teachers to assist in continuing their education directly from hospital grounds.?

REPRESENTATION IN THE MIDDLE EAST

Speaking more personally, Dr. Abou Tayoun revealed his dedication towards increasing access to precision medicine in the Middle East, North Africa, and Asia, as well as representation of diverse populations to fill the data gap in the NHGRI-EBI GWAS Catalog, a curated collection of all human genome-wide association studies, produced by a collaboration between the European Bioinformatics Institute (EMBL-EBI) and National Human Genome Research Institute (NHGRI). At present, 78% of genomic data in the catalogue comes from people of European descent.

Born in Kuwait and raised in Lebanon, Dr. Abou Tayoun was inspired to return to the region after his training in the United States to foster the field in the region and to help establish the Al Jalila Genomics Center.

“In a nutshell, we want to be able to provide comprehensive genomic profiling for patients with suspected rare diseases as quickly, easily, and cost-effectively as possible,” he said, noting the challenges of precision diagnostics in the Middle East. The goal, he elaborated, is to reduce the lengthy diagnostic odysseys – which can be longer specifically to diagnostic yield, feasibility, impact on treatment and management, and avoiding unnecessary diagnostic workup, among other advantages.

THE FUTURE LOOKS PRECISE

Looking to the future of precision medicine, Dr. Abou Tayoun sees an increase in the adoption of artificial intelligence (AI), which is already utilised in his research.

“We use a lot of algorithms and machine learning tools already to automate genomic analysis and interpretation,” he said. “So, we are adopters of AI and are keeping an eye on how to best utilise [it] safely and effectively.”

For the next 5-10 years, Dr. Abou Tayoun has a bold vision.

“From my perspective, I would love to see that every baby gets their whole genome sequenced and interpreted, cost-effectively and accurately, as part of a newborn screening program. This genomic data will be used longitudinally, through integration with electronic medical records, to guide the well-being of every child in their lifetime journey.

“Maybe this will take 5 to 10 years, but we are steadily headed there.”

Interested to know more?

To learn about how stakeholders are redefining healthcare in the GCC and MENA region, read the full PrecisionMed International May 2023 magazine online?here.

Published in PrecisionMed International Magazine (MENA Edition)