Baylor Genetics Presents New Data on Clinical and Diagnostic Utility of RNA Sequencing for Rare Disease at the American Society of Human Genetics 2025 Annual Meeting

Research underscores clinical utility of RNA sequencing in providing critical insights to drive diagnoses and medical management

HOUSTON, Oct. 15, 2025 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, today showcased new research in RNA sequencing (RNA-seq) to uncover critical information leading to rare disease diagnoses at the American Society of Human Genetics 2025 Annual Meeting, taking place in Boston, MA.

In “Diagnostic Utility of RNA Sequencing for Reclassification of Rare Disease Variants by Exome and Genome Sequencing”, authors uncovered functional evidence to allow for more accurate classification of variants in a significant number of genome and exome sequencing cases.​ A total of 3594 consecutive cases were reviewed. Variants from genome and exome sequencing meeting eligibility criteria for targeted RNA-seq were identified in a variety of genes associated with a wide spectrum of diseases and across inheritance patterns. ​RNA-seq was able to reclassify half of eligible variants identified, providing clarity on these findings. Some genes had low Transcripts Per Million (TPM), highlighting test sensitivity. The utility of RNA-seq to establish rare disease diagnoses supports inclusion of this and other multi-omic approaches for clinical genome and exome sequencing to enhance diagnostic yields. Interestingly, over a third of RNA-seq eligible cases had noncoding variants found by genome sequencing that would likely be missed if exome sequencing had been ordered.

In a second abstract entitled “Clinical Utility of Transcriptome RNA-Sequencing in Diagnosing Rare Genetic Disorders: Initial Experiences”, authors employed validated whole Transcriptome RNA-sequencing (TxRNA-seq) to make molecular diagnoses. With the Undiagnosed Diseases Network, researchers enrolled 45 patients with previously undiagnosed clinical presentations across multiple specialties. TxRNA-seq uncovered, through direct transcript-level assessment, pathogenic mechanisms that DNA-based methods had not detected. TxRNA-seq provided information that supported a positive diagnostic result in 11 out of 45 cases (24%). Researchers’ initial clinical experience underscores the application of TxRNA-seq to identify previously unknown findings which improves diagnostic yield and refines molecular interpretations in complex rare disease cases.

Please visit Baylor Genetics at Booth #556 at ASHG for discussions with our scientific and commercial team and hear presentations from our clinical team. In addition to the two posters mentioned above, the company will also be presenting six additional posters. The Exhibit and Poster Hall are open October 15–17, from 9:30 a.m. to 4:30 p.m. daily.

About Baylor Genetics
Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, including Whole Genome Sequencing, Whole Exome Sequencing, and focused panels. Baylor Genetics combines rapid and comprehensive precision diagnostics options with the support of genetic counselors to help clinicians avoid a lengthy diagnostic odyssey for their patients, guide medical management, and ensure no patient with a genetic disorder gets left behind. Baylor Genetics’ testing menu covers family planning, pregnancy, neonatal and pediatric testing, oncology, and many other specialized testing options. Located in Houston’s Texas Medical Center, Baylor Genetics serves clients in 50 states.

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