Hope for Patients with Complex Medical Conditions and Rare Diseases
30 June 2024, Doha, Qatar – Sidra Medicine, a member of Qatar Foundation, is pleased to announce that it has successfully implemented clinical grade Whole Genome Sequencing (WGS), as an advanced diagnostic-grade genetic test for its patients. The method has the power to transform pediatric healthcare in Qatar by enabling more personalized diagnoses with accuracy and speed.
WGS is a comprehensive genetic test that analyzes an individual's entire genome to identify genetic variations linked to diseases. It can quickly detect most genetic issues, including rare conditions that might otherwise go undiagnosed. The availability of the test in Qatar, significantly eliminates the need to send samples abroad, reducing turnaround times from months to weeks. This is particularly crucial for critically ill patients where timely diagnosis can be lifesaving.
Dr. Iyabo Tinubu-Karch, CEO of Sidra Medicine said: “The implementation of clinical grade whole genome sequencing represents a transformative step forward for healthcare in Qatar and around the world. Thanks to the tireless efforts of our Chairperson, Her Highness Sheikha Moza bint Nasser, and the support of Qatar Foundation, Sidra Medicine is well-positioned to developing cutting-edge methods that are dynamically changing and meeting the personalized medical needs of our patients. Our commitment to precision medicine provides our patients and their families, as well as healthcare providers and partners with valuable insights into genetic health, leading to improved outcomes for all.”
Dr. Khalid Fakhro, Chief Research Officer at Sidra Medicine said: “This is a major milestone for Qatar, as Sidra Medicine is now the first site in the country to offer clinical-grade whole genome testing. The launch is the culmination of nearly a decade of developing infrastructure and expertise in genomics under one roof. It reflects the hard work and solid collaboration between teams in genetic pathology, research, quality assurance, the clinical genomic laboratory, and genomic data science.”
As the cost of WGS continues to decrease, Sidra Medicine will consider making it a routine part of its pediatric care services especially for young patients with unexplained health conditions. The program will also enable proactive and preventive measures for the hospital’s patients including fetuses and young babies, by identifying genetic risks in advance and developing personalized treatment plans.
Dr. Jason Ford, Chair, Department of Pathology at Sidra Medicine said: “Whole genome sequencing transforms healthcare by facilitating precise diagnosis, based on symptoms and cascade testing. The methodology leads to more targeted treatments and improved patient outcomes. It will allow our clinicians to identify the genetic root of rare and complex pediatric diseases, eliminating the long diagnostic journey that many patients endure. By streamlining the diagnostic process, WGS reduces overall wait times and hospital costs, ultimately enhancing the quality and efficiency of patient care.”
Dr. Fakhro concluded: “Whole genome sequencing is a complex project that required a significant investment in advanced DNA sequencing technologies and coordinated teamwork. We also gratefully acknowledge the assistance of Illumina Corporation in facilitating the successful launch of WGS at our hospital.”