Baylor Genetics Study Finds Genome Sequencing Identifies Genetic Diagnoses in Nearly One-Third of Children with Intellectual Disability and Developmental Delay
HOUSTON, Oct. 14, 2026 (GLOBE NEWSWIRE) -- Baylor Genetics, a leading diagnostic genomics partner offering a full
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HOUSTON, Oct. 14, 2026 (GLOBE NEWSWIRE) — Baylor Genetics, a leading diagnostic genomics partner offering a full spectrum of comprehensive genetic tests and diagnostic services, today announced the publication of its study “Diagnostic Yield of Genome Sequencing for Children with Intellectual Disability and Developmental Delay (ID/DD)” in Frontiers in Neurology.
This study assessed the ability of Baylor Genetics’ Whole Genome Sequencing (WGS) test to identify diagnoses for pediatric patients with intellectual disability (ID) or developmental delay (DD). These are clinical indications for which genome sequencing is recommended as a first-tier test by medical societies including the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP).
The retrospective analysis of more than 650 pediatric patients with ID/DD demonstrated that WGS identified a genetic diagnosis in 31.1% of children overall, with the diagnostic yield reaching 35.3% for patients without previous genetic testing and 48.5% for those who had rapid trio WGS.
The study also demonstrated that almost 8% of diagnostic variants identified by WGS were types of variants that may not have been detected by other standalone genetic tests, including exome sequencing. These variant types included short tandem repeat expansions, deep intronic and noncoding variants, and variants within the mitochondrial genome.
Among patients who previously had exome sequencing, 12.6% received a new diagnosis through WGS, reinforcing that WGS may capture variants missed by exome sequencing or other testing approaches. Other patients had findings that may be further clarified through multimodal technologies such as optical genome mapping.
“Research continues to demonstrate genome sequencing’s value in helping clinicians identify the underlying genetic causes for children with ID/DD. In fact, approximately 90% of positive genome sequencing results from this study directly explained the patient’s ID/DD phenotype,” said Christine Eng, MD, Chief Medical Officer, Chief Quality Officer at Baylor Genetics and an author of the study. “The findings from this analysis further support recommendations by medical and professional societies for genome sequencing as a first-tier diagnostic test for patients with ID/DD. By helping families reach answers sooner and reducing the need for multiple rounds of testing, multimodal genome sequencing has the potential to shorten the diagnostic odyssey and improve the overall patient care journey.”
About Baylor Genetics
Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of comprehensive genetic tests and diagnostic services, from clinical-grade genomic sequencing to expert interpretation, 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, pharmacogenomics and many other specialized testing options. Located in Houston’s Texas Medical Center, Baylor Genetics serves clients in 50 states.
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