Dubai: In a pioneering initiative in the region, Dubai Health has launched a rapid and comprehensive genomic testing programme called ‘Little Falcon’ to save the lives of critically ill babies with genetic conditions.
A collaboration between Genomics Centre of Excellence at Al Jalila Children’s Specialty Hospital and the Neonatal Intensive Care Units (NICU) and the Pediatric Intensive Care Units (PICU) under Dubai Health, the programme aims to provide quick life-saving treatments and significantly reduce healthcare costs.
The initiative is part of a larger project to integrate advanced genomic medicine into clinical care for neonates and pediatric patients. The project involves conducting rapid whole genome sequencing (WGS) on critically ill infants suspected of having genetic conditions.
In an exclusive interview, Dr Ahmad Abou Tayoun, who leads the project, told Gulf News that standard genetic testing typically takes around six weeks to deliver results of sequencing just one per cent of the genome.
“In contrast, this new test sequences the entire genome within two to three days, offering a comprehensive analysis that can expedite diagnosis and treatment,” explained Dr Abu Tayoun, director of Genomics Centre of Excellence at Al Jalila Children’s Specialty Hospital and an associate professor of genetics at the College of Medicine in Mohammed Bin Rashid University of Medicine and Health Sciences.
Why it matters
Dr Abu Tayoun said the programme not only offers hope to families but also sets a new standard for cost-effective, high-quality healthcare.
Rapid genomic testing is crucial for critically ill babies who present with life-threatening conditions that are often rare, complex and multi-systemic. These conditions can be challenging to diagnose clinically due to their rarity and complexity.
The ability to quickly provide a precise genetic diagnosis allows doctors to implement targeted treatments, potentially saving lives and improving health outcomes.
“This rapid testing provides timely and precise diagnoses, which can change the course of treatment for these young patients. It not only helps in administering the right treatment quickly but also in avoiding unnecessary and expensive diagnostic procedures,” pointed out Dr Abu Tayoun.
Cost-effectiveness
While the fast WGS is not cheap, its economic benefits are significant. The average cost of a night in the NICU can range from Dh15,000 to Dh20,000, said Dr
By quickly diagnosing the underlying genetic condition, the programme can potentially reduce the length of NICU stays and avoid the costs associated with extended diagnostic workups. This results in substantial savings for healthcare providers and insurers.
Dr Abu Tayoun pointed out: “The rapid diagnosis means we can avoid a lot of additional testing like MRIs, EEGs, CT scans, and multiple lab tests. This not only saves costs but also reduces the physical burden on the baby and stress for the families.”
Early results
The project aims to test 200 babies and their parents over two years. As of early 2024, around 40 babies have been tested in the early phase, with about 50 per cent receiving a positive diagnosis within two to three days.
For these cases, the rapid diagnosis has led to changes in treatment and management in most cases, highlighting the clinical utility of this approach. In certain cases, a simple change in diet saved the lives of the babies.
“These diagnoses also ended up saving 50 per cent of the cost,” said Dr Abu Tayoun.
Academic, research integration
This initiative is a prime example of how an academic healthcare system such as that of Dubai Health can bridge clinical practice and research. Dr Abu Tayoun, who holds dual roles in clinical diagnostics and academic research, oversees a clinical and research team for the project.
“This programme is also a PhD project for one of the Emirati students, Fatma Rabea at MBRU. You don’t have such an integrated system anywhere in the Middle East.”
Future benefit
The success of this programme could pave the way for genomic testing to become a standard of care for critically ill infants in Dubai and beyond.
The data generated will be crucial in advocating for insurance coverage for these tests, demonstrating their value in improving patient outcomes and reducing healthcare costs.
Dr Abu Tayoun said: “Our goal is to show that this rapid genomic testing is not just beneficial but essential. By generating robust data on its clinical and economic impact, we hope to make a compelling case for its broader adoption and insurance coverage.”
Global recognition
The Little Falcon project took flight with a feasibility study in 2021, the result of which was published in prestigious journal Genome Medicine in 2022. Following this, the project received a generous grant for its launch in the summer last year.
The significance of this initiative has already garnered international attention. Publications in prestigious international journals such as Nature and Nature Magazine have highlighted the programme’s innovative approach and its potential to transform neonatal care, particularly in underrepresented populations in the Middle East.
Dr Abu Tayoun said a few premier medical academic facilities in the US and UK are also doing similar projects. “Nature Magazine independently ran a feature on those worldwide programmes and featured us among the very few pilot projects in the world. Ours is the largest project so far in the world and first in the Arab world and the Middle East.”
The final outcome will also be published upon the completion of the project.
-Phenylketonuria (PKU): A metabolic disorder where the baby cannot metabolise phenylalanine. Early dietary interventions can prevent severe outcomes.
-Galactosemia: Another metabolic disorder where the baby cannot process galactose (milk sugar), leading to life-threatening complications if not managed with a special diet.
- Syndromic conditions: Complex syndromes involving multiple systems (e.g., brain, hearing, kidneys) where a genetic diagnosis can guide comprehensive care and monitoring.
