Showcase Presentation to Include Case Examples from NIH’s Undiagnosed Diseases Network (UDN), Demonstrating Diagnostic Impact of Whole Genome Sequencing on Medical Care
Houston, Texas, January 23, 2024 – Christine Eng, MD, chief medical officer and chief quality officer at Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, will speak on day one at the Precision Medicine World Conference (PMWC) 2024 in Silicon Valley on January 24th at 1:30 p.m. PT at the Showcase Track S2 stage (Hall C/D).
Dr. Eng’s talk, titled “Sequencing Approaches to the Undiagnosed Patient,” will shed light on the challenges of diagnosing rare diseases and the impact of timely, comprehensive testing such as rapid Whole Genome and Exome Sequencing (WGS/WES) for newborns and children with complex medical conditions. The National Organization for Rare Diseases (NORD) estimates there are about 350 million people globally affected by rare diseases – of which there are thousands of rare diseases that often exhibit variable, obscure, or overlapping symptoms that complicate diagnosis. Most rare diseases – about 80% – have a genetic basis.
Eng’s presentation will focus on the groundbreaking work and clinical findings from the National Institutes of Health’s (NIH) Undiagnosed Diseases Network (UDN). Baylor Genetics and partner Baylor College of Medicine have served as the sole sequencing core for UDN since its inception in 2014, providing WGS/WES testing, interpretation, validation and reporting for patients with rare genetic diseases. The session will explore some real-world case studies where patients were able to find solutions to lengthy diagnostic odysseys through the collaborative work of UDN partners. The Harvard Gazette recently published one such story, noted in a Baylor Genetics blog on navigating the maze of undiagnosed diseases.
Eng serves as the principal investigator of the core for the UDN. To date, more than 2,240 UDN participants have been evaluated using WGS and WES with 30% being diagnosed. Whole Exome Sequencing provides insights into all genes in the human body. Whole Genome Sequencing provides further insights into the entire human genome, including the regions between genes. This extensive analysis can significantly increase diagnostic yield over other types of genetic testing, empowering healthcare providers and patients to make more informed decisions about future care or clinical trial eligibility.
“For families looking for answers about their loved one’s rare and most complex medical conditions, rapid WGS and WES can be an invaluable resource for providing a diagnosis and treatment path,” said Eng. “I look forward to sharing insights, data, and case examples as we continue to unlock the power of precision diagnostics and empower patients, providers, and partners with genetic answers that matter.”
Eng’s presentation will include data on the early application of clinical genomic sequencing for patients in neonatal and pediatric intensive care units (NICU and PICU), recognition of new genetic syndromes, and impact of re-analysis on diagnostic rates over time. A Rare Disease Impact Report found that 30-50% of newborns with genetic disorders are among neonatal deaths in the NICU.
About Christine Eng, MD
In addition to her roles as chief medical officer and chief quality officer at Baylor Genetics, 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. Eng, a trained pediatrician and medical geneticist, has gained recognition for her significant contributions to the implementation of genomics in clinical practice. Her expertise is evident through senior authorship of articles in publications such as the New England Journal of Medicine and the Journal of American Medical Association, particularly regarding exome sequencing. She is the principal investigator of the genome sequencing core for the NIH’s UDN. Notably, she was elected to the Board of Directors of the American Society of Human Genetics, effective January 1, 2024.
About Baylor Genetics
A pioneer of precision diagnostics 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. A joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, which has the #1 NIH-funded Department of Molecular and Human Genetics, Baylor Genetics couples the fastest and most comprehensive precision diagnostics options with the support of genetic counselors to help clinicians and their patients avoid a lengthy diagnostic odyssey, guide medical management, and make sure no patient with a genetic disorder gets left behind. Its test menu spans from family planning, pregnancy, neonatal and pediatric testing, oncology, and specialized test options. Baylor Genetics is located in Houston’s Texas Medical Center and serves clients in 50 states and 16 countries.
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