Clinical diagnostic laboratory Baylor Genetics has launched whole transcriptomic RNA sequencing (WT RNAseq) for undiagnosed diseases research.
The new clinical test and reporting will be offered under Houston-based Baylor Genetics' new lab, the Medical Genetics Multi-omics Laboratory (MGML), and agreement with the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM). WT RNAseq differs from targeted RNA sequencing currently offered, according to BCM, where Baylor Genetics operates under a joint venture.
WT RNAseq goes beyond the interpretation of already identified variants by whole exome sequencing (WES) or whole genome sequencing (WGS), Baylor said in a news release. WT RNAseq also analyzes RNA molecules expressed in skin cells and/or blood to identify disease-causing candidate genes that may be missed by the initial analysis of WGS and WES.
"Variants of unknown significance can be difficult for providers to interpret, and may lengthen the diagnostic odyssey for patients," said Baylor Genetics chief medical officer and chief quality officer Dr. Christine Eng in May when RNA sequencing launched for WES and WGS. "We increase the potential to reclassify uncertain variants and provide deeper understanding of a patient's condition, treatment options and health management," Eng said.
WT RNAseq will be available through the Undiagnosed Diseases Network (UDN), a research study funded by the National Institutes of Health (NIH) that brings together clinical and research experts from across the U.S. The UDN is made up of a data management coordinating center, clinical sites (including BCM, Texas Children's Hospital, and Baylor St. Luke's Medical Center in Houston), and core facilities. The sequencing core, which provides sequencing services for the UDN, is also at BCM.
Last year, the NIH announced over $50 million in funding for multi-omics research on human health and disease. The most common symptom category for participants undergoing exome sequencing and genome sequencing through the UDN is neurology (47% and 49%, respectively), according to UDN's summer 2024 update. In addition, 19% of participants who underwent genome sequencing have a least one diagnosis made through sequencing.
Next-generation RNA sequencing has the capability to quantify gene expression and can also facilitate the discovery of novel transcripts, identification of spliced genes, and detection of allele-specific expression, according to the UDN.
