Click here to read this customer interview on a landmark NGS study that lead to a national clincial diagnostic exome sequencing platform in Singapore.
NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease
Landmark NGS study leads to a national clinical diagnostic exome sequencing platform in Singapore.
After receiving his MD from the National University of Singapore (NUS), cardiologist Roger Foo underwent higher specialist training at the University of Cambridge, and started research into the epigenetic regulation of gene expression in heart failure. The power of next-generation sequencing (NGS) became apparent as Dr. Foo began using NGS systems to perform RNA-Seq and ChIP-Seq on patient heart muscle samples. It was clear that clinical researchers throughout the world were using NGS more broadly for the identification of disease-associated DNA variants and as an integral part of clinical translation studies. When he returned to Singapore, Dr. Foo became a vocal advocate for the broader use of NGS in the clinic.
Founding a cardiac genetic service for Mendelian-associated monogenic cardiac diseases in adults provided the first step to raise awareness of the value of NGS among his peers. He proceeded to collaborate with his pediatric colleagues through a Biomedical Research Council (BMRC)-funded Rare Undiagnosed Disease program to make clinical exome sequencing available to children. About 1% of all babies born in Singapore have potential genetic conditions.1 Some are immediately recognizable by pediatricians, including trisomies and less complex syndromes. Others are more complicated congenital conditions, including those with developmental delay or intellectual disability, that might become apparent only in the weeks and months after birth. Rare undiagnosed diseases provided the perfect entry point to bring NGS into more routine use for clinical translation in Singapore. Together with pediatricians from Singapore National University Hospital (NUH) Kids and KK Women’s and Children’s Hospital, he established the Singapore Undiagnosed Diseases Research program for Kids (SUREKids). Using NGS to sequence babies with rare undiagnosed disease provides the SUREKids team with an opportunity to find a possible genetic diagnosis for these children’s conditions.
iCommunity spoke with Dr. Foo about SUREKids, the results that have been obtained so far, building an NGS analysis and data storage infrastructure within Singapore, and growing Singapore government support for NGS clinical studies.
Click here to read the full interview.
For more information on Whole Genome Sequencing and Rare Disease, check out this Global Patient Advocacy Resource.