For more than 20 years, the KK Women and Children’s Hospital (KKH) Genetics Service has been providing clinical care to patients with genetic disorders. In 2014, BRIDGES (Leading Research Innovation for the Diagnosis of GEnetic Diseases in Singapore) was established, in collaboration with genomic research centers at SingHealth, Organization for Science, Technology and Research (A * STAR) and Duke-NUS to configure the diagnosis efforts and manage patient outcomes.
After six years, the KKH has achieved the goals outlined in its BRIDGES program, achieving 39 percent in diagnostic results through the identification of more patients with genetic mutations. This result equates to similar research programs worldwide that have a 25 to 40 percent survey result.
BRIDGES has helped 160 children with rare and undiagnosed illnesses get a proper diagnosis, and has allowed doctors to provide better care for themselves and their families. In addition, six of these children were diagnosed with a new disease that had never been reported before, with two of these findings being led by the team of KKH clinicians and A * STAR scientists. in Singapore:
1. PKB Syndrome – the first human report of an EIF6 gene mutation in a six-year-old Chinese boy who had features such as those for Shwachman-Diamond syndrome (SDS), a rare disorder characterized by incompatibility pancreatic and bone marrow failure. The clinical symptoms had not been associated with the EIF6 gene before and the PKB Syndrome was named after the doctor who first named the specific collection of symptoms, Professor Phua Kong Boo, Chief Consultant, Gastroenterology Service, Hepatology & Nutrition, Department of Paediatrics at KKH. The results were published on July 13, 20201; and
2. Jamuar Syndrome – the world’s first known case of genetic syndrome in two Indian sisters with a unique clinical image that showed epileptic seizures and developmental delay. Jamuar Syndrome was named after Dr. Saumya Jamuar, Senior Consultant, Genetic Services, Department of Pediatrics at KKH, who first identified the clinical features as a new disorder. The results were published on 30 January 2020.2
Genetics is a useful tool to understand the underlying causes of childhood disorders, and to explore possible treatment strategies. The BRIDGES program demonstrates the potential for multi-institution collaboration to work closely together to address medical stress issues. “
Patrick Tan, Professor, Executive Director, Genome Institute, Singapore
Professor Roger Foo, Principal Group Director at the Laboratory of Molecular Epigenomics and Chromatin Group, Principal Investigator of the Biomedical Research Council (BMRC) – Singapore Rare Disease (SUREKids) program, said: This is a huge improvement for patients in our clinics. . Powerful technology and next-generation classification science can dramatically change the way we treat our patients. We now see the obvious proof of this today. “
Bridge the unknown to judgment, and find out in good time
For most patients and their families, living with rare, undiagnosed disorders is a long journey. Even knowledge of the underlying cause of the disorder offers relief and a positive step towards finding targeted options for symptom management and management.
In cases of critically ill children and especially those with a suspected genetic disorder, timely but definitive diagnosis is often necessary. Under BRIDGES, the Rapid Genomic Sequencing (RapidSeq) test was developed for cases in the neonatal and pediatric intensive care units.
Compared to the standard version from two to three months for standard order results, RapidSeq has been able to extend that to 10 working days. This is vital to help families make decisions about the care options available to their children.
Taking mainstream medicine Since 2014, BRIDGES has completed an analysis for 412 families and diagnosed in 160 families (39 percent), leading to exceptional clinical governance and improved health outcomes. at least one of three families. To accelerate and encourage access to the full spectrum of risk assessment, testing and genetic counseling, the Duke-NUS SingHealth Genomic Medicine Center (SDGMC) was established in 2019 to establish dedicated genetics clinics at all hospitals and institutes under SingHealth.
Dr Saumya Jamuar, Chief Consultant at KKH and Chief Executive Officer of SDGMC, said, “The success of the BRIDGES program has helped us find many more patients with rare childhood disorders compared to in the past. further, with a better understanding of the causes of these genetic disorders, we are exploring collaborations to identify therapeutic targets and develop treatments for these children. “