The Genomics Center at the Al Jalila Children's Specialty Hospital (AJCH) is the first-of-its-kind facility in the UAE. It houses state-of-the-art technologies operated by highly skilled board-certified team members capable of performing a wide range of internationally validated genetic testing coupled with genetic counseling services across all pediatric subspecialties.
Through this setup, the Center has effectively addressed the gap in the region for complex genetic testing and counseling services with a focus on pediatric disorders.
The facility
The Genomics Center-AJCH was officially inaugurated by His Highness Sheikh Mohammed Bin Rashid in early 2020 within the AJCH premises to support appropriate genomic testing and genetic counseling across all pediatric subspecialties and to guide treatments based on patient's genetic information.
An American board-certified clinical molecular geneticist is leading the Center's laboratory. The team includes qualified bioinformatics scientists, genomic analysts, molecular technologists, and genetic counselors. The lab is considered the first clinical genomics facility in the UAE to establish in-house bioinformatics and interpretation pipelines following the American College of Medical Genetics and Genomics (ACMG) standards.
The Center was accredited by the College of American Pathologists (CAP). The College featured it as a first-of-its-kind Pediatric Genomics Center of excellence in the UAE. All of the Center's genomics tests and workflows have been extensively validated and benchmarked against world-renowned centers in the USA, including Harvard Medical School, the University of Pennsylvania, Dartmouth Medical School, Greenwood Genetics Center, and the Children's Hospital of Philadelphia. The validation studies showed 100% concordance between in-house results and those obtained by all the above institutions.
The Services
The Genomic Diagnostics services at the Genomics Center- AJCH utilizes cutting-edge genomic technologies such as whole exome and whole genome sequencing. These complex tests use next-generation sequencing (NGS), the primary technology driving precision medicine.
The Center provides these tests in the Neonatal Intensive Care Unit to facilitate early diagnosis and effective management of diseased neonates. Besides, it has produced its own customizable and targeted disease gene panels, which allow healthcare providers to select which genes to be analyzed for individual patients. The Center provided genomic testing for a broad spectrum of pediatric disorders and syndromes, including but not limited to Neurodevelopmental disorders, Hearing Loss-related disorders, Gastroenterology disorders, Pulmonary disorders, Skeletal and connective tissue disorders, Endocrinology disorders, Immunology and rheumatology disorders. It becomes a referral center for genomic testing from several hospitals within the UAE and a regional testing hub for Spinal Muscular Atrophy, as samples for this disease are referred from hospitals in the UAE and the region, mainly Saudi Arabia.
The Center provides testing for children with unexplained developmental delays, intellectual disabilities, multiple congenital anomalies, and autism spectrum disorders. It also provides Fragment Analysis, highly specialized tests for methylation disorders like Angelman, Prader-Willi, and Beckwith-Wiedemann syndrome; repeat expansion disorders like Fragile X syndrome; microdeletion disorders like DiGeorge, William, and Smith-Magenis Syndromes; and SMA.
The availability of these genomic diagnostic services has paved the way for the Center to take part in introducing the first gene therapy to UAE in 2020, which was administered to a child with Spinal Muscular Atrophy. After that, 33 more children underwent the same treatment.
The Center has helped test, diagnose, counsel, and manage over 600 pediatric patients with rare disorders who were difficult to diagnose on a clinical basis alone. Many of these patients were managed or treated effectively with innovative personalized plans or treatments based on their genetic information.
The diagnostic division has a well-developed genetic counseling core, the first in the UAE, to educate clinicians and families about genetic test ordering, risk assessment, family planning, and results interpretation. The counseling service is run by an American board-certified genetic counselor who takes the time to counsel the patient and the families before and after taking the test and participates in comprehensive multidisciplinary clinics with specialized pediatricians in several subspecialties. These comprehensive multidisciplinary clinics aim at improving the lives of children suffering from disorders with a suspected underlying genetic etiology.
Education
The Genomics Center-AJCH has been highly involved in education and training programs in collaboration with Mohammed Bin Rashid University of Medicine and Health Sciences. Since its inception, the Center has been a destination for MBRU medical students' research projects. Recently, it has become the training site for its first Emirati Ph.D. student, who will spend four years training in genomics to address knowledge gaps in the field towards her Ph.D. thesis project. Furthermore, the Center has offered several educational seminars and conferences to educate the public and professionals in genetics and genomics.
In addition, the Genetic Counseling Core is also committed to educating clinicians and families in understanding all aspects of genetic testing, from ordering and billing to consenting, recurrence risk assessment, result disclosure, and family planning.
Research
The Genomics Center -AJCH has cooperated with different scientific organizations and secured grants from various funding bodies to run its research activities. It received funds through MBRU to sequence the entire genome of SARS-CoV-2 and to track its transmission within the UAE, and from Al Jalila Foundation to study the contribution of genetics to COVID-19.
The Center also frequently collaborates with the industry. It recently received a new fund from Novartis- the USA, to run the UAE's first and largest newborn genetic screening program for SMA. This study aims to identify SMA patients as early as possible to understand the incidence of this disease in the UAE for more effective prevention programs and better outcomes.
Furthermore, in collaboration with MBRU, the Center launched the first Center for Genomic Discovery in the UAE to facilitate novel genetic discoveries specific to the UAE population and the Middle East. Several studies are already underway to characterize novel genes and diseases within the country. It pilots the utility of rapid whole genome sequencing on babies presenting to the Neonatal Intensive Care Unit with life-threatening conditions. So far, this service has been offered to three families in the NICU and has helped diagnose and adequately manage two of the three babies.
Since the start of the COVID-19 pandemic, the Genomics Center - AJCH has been at the forefront of the fight against COVID-19. It collaborated with MBRU and the Dubai Health Authority (DHA) to sequence the first SARS-CoV-2 whole genome in the UAE. It continues to work with both organizations to sequence and track any emerging variants in Dubai fully and to act as the central genomic surveillance hub to track the viral spread and transmission in Dubai and to support public health decisions. Moreover, genetic information about the virus in Dubai has been shared globally early in the pandemic.
The immediate public health goal was to construct a fully dimensional spatiotemporal map of local transmissions with which scientists can identify and characterize infection hotspots and help predict where the next ones will appear. The Centre used powerful statistical tools to keep the map up-to-date and inform international partners.
The team has so far generated around 32 publications in high-impact, peer-reviewed genetics and genomics scientific journals, including Clinical Chemistry and Nature Scientific Reports, sharing their findings and making highly technical material genuinely accessible.
Due to the outstanding contributions and the pioneering role in healthcare delivery in the UAE and the region, the provision of education and research, the Genomics Center deserves the Hamdan Award for an Outstanding Clinical Department in the Public Sector in UAE for the term 2021-2022.
