Baylor Genetics Chief Medical Officer Christine Eng, M.D., Shares New RNA Sequencing Insights for Rare Disease at Precision Medicine World Conference 2025
Clinical Diagnostic Showcase Presentation to Include Reviewing RNA Sequencing Uses and Examining Cases Demonstrating Its Clinical Utility
WHO: Christine Eng, M.D., chief medical officer and chief quality officer at Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, will present as part of the Clinical Dx (Diagnostic) Showcase track at the Precision Medicine World Conference (PMWC) 2025. In addition to her role at Baylor Genetics, Dr. Eng also serves as the vice chair for diagnostic laboratory affairs in Molecular and Human Genetics at Baylor College of Medicine, where she is a professor. Dr. Eng, a trained pediatrician and medical geneticist, has gained recognition for her significant contributions to the implementation of genomics in clinical practice.
WHAT: Dr. Eng’s talk, entitled “RNA Sequencing to Help Identify Rare Genetic Disorders,” will shed light on the use of RNA sequencing (RNAseq) in diagnosing rare genetic disorders, particularly its ability to help resolve variants of uncertain significance (VUS), ultimately to improve diagnosis and end the diagnostic odysseys for patients with rare diseases and their families.
Genetic testing such as whole genome sequencing (WGS) and whole exome sequencing (WES) can return variants of uncertain significance (VUS). This creates uncertainty for patients and their healthcare providers, making informed decisions for that patient’s medical management and treatment more difficult. RNA sequencing provides crucial functional evidence to support reclassification of variants impacting gene expression. Dr. Eng’s presentation at PMWC will address RNA sequencing’s capabilities to reclassify a notable percentage of VUSs, criteria for using this advanced testing, and a review of selected clinical cases that showcase the success of RNAseq in finding answers for several rare disease pediatric patients.
WHERE: Precision Medicine World Conference (PMWC) 2025 will take place at the Santa Clara Convention Center in Silicon Valley.
WHEN: Dr. Eng’s sessions will be held on Wednesday, February 5 at 2:00 p.m. PT.
Learn more about PMWC through the conference website and visit the Baylor Genetics website to explore the company’s full spectrum of genetic testing capabilities.
About Baylor Genetics
As a pioneer of precision medicine for over 45 years, 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. Through a joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, 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 and 16 countries.
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