A husband and wife were in despair after two separate pregnancies resulted in both their babies dying soon after birth as the babies’ brains had not developed appropriately. Traditional tests did not identify a cause. The couple decided to enroll in the research programme, BRIDGES (Bringing Research Innovations for the Diagnosis of Genetic diseases in Singapore), to help them find an answer. BRIDGES is a collaboration between the Genetics Service at KK Women’s and Children’s Hospital (KKH) and genomics research institutes including SingHealth Duke-NUS Institute of Precision Medicine (PRISM) and A*STAR.

Using whole exome sequencing, researchers identified a variation in KIAA1109, a gene that had not been associated with human disease before. In collaboration with researchers from the University of Lausanne, Switzerland, the team confirmed it as the cause of the babies’ brain malformation.

“With this information, the clinical team was able to help the couple to attempt a healthy pregnancy with the aid of advanced reproductive technology,” said Dr Saumya Shekhar Jamuar, Head, SDGMC, and Senior Consultant, Genetics Service, Department of Paediatrics, KKH. He was speaking at the launch of the SDGMC last month.

Dr Saumya shared that Genomic Medicine is still in its infancy, yet the potential is vast in both the prevention and management of serious diseases. In 2018, researchers from the SingHealth Duke-NUS Institute of Precision Medicine studied the genomic data of 831 Singaporeans and made some surprising discoveries. 

For instance, the data revealed that one in 41 Singaporeans carry a gene that causes Citrin deficiency, making it the most common treatable genetic disorder in the local population. The health problems associated with citrin deficiency can be prevented if the condition is detected early and treatment is initiated while the individual is asymptomatic. 

“This gave us the impetus to develop a newborn screening assay so infants affected with the condition can be identified within the first week of life. With early diagnosis and intervention, we hope to see better long-term outcomes for these children,” said Dr Saumya. 

While most genetic disorders are diagnosed in the first few weeks of life, it can take many years to identify very rare conditions. Research has also shown that genetic mutations also play a role in major diseases such as cancer and heart disease. The SDGMC brings together genomic expertise across the SingHealth institutions to enable more accessible care for patients for whom this specialised area of Medicine will make a direct and impactful difference. The SDGMC will also create opportunities for closer collaborations and accelerate research findings by breaking down disease boundaries and investigating clinical challenges in a more holistic and efficient manner. 

Professor Ivy Ng, Group CEO, SingHealth said, “The SingHealth Duke-NUS Genomic Medicine Centre will seamlessly integrate genomics care into our healthcare institutions, providing crucial genomics perspectives and timely intervention across medical specialties. This will allow for more accurate diagnoses and personalised treatment for patients with genetic diseases, and more effective risk assessment, monitoring and intervention for their family members who are at risk. ” 

With the establishment of specialty genetics clinics, patients and at-risk individuals no longer need to be referred to a separate site for genetics services and will be able to receive the appropriate genetics support at the institution where they are receiving care. This enhances patient experience and also improves communication between clinical and genetics teams to better provide more coordinated care and support plans for patients and their family members.

The SDGMC received an anonymous gift of $1 million to advance its work in delivering clinical care with the use of advanced genomic technologies to improve patient diagnosis, therapeutics and healthcare outcomes. It includes harnessing big data research capabilities to understand the epidemiology of genetic diseases in Singapore and create predictive models so that diseases can be more accurately diagnosed and managed.