Whole-genome sequencing (WGS) for rare disease offers three key advantages over other genetic testing methods:
Especially important for rare disease cases, whole-genome sequencing is the most comprehensive test for detecting multiple variant types in a single assay.1–8 In a large, randomized controlled trial, the median time to diagnosis in neonatal intensive and pediatric intensive care patients was 13 days with WGS, compared to 107 days with standard testing.9
WGS testing performed in the Illumina Clinical Services Laboratory represents individuals enrolled in disease-specific clinical trials or as part of philanthropic efforts. As such, the percentage represented here may not be typical of that seen in a standard laboratory. This data is based on 669 total cases.
Whole-genome sequencing for rare disease has the power to help doctors diagnose genetic diseases quickly, helping families avoid long diagnostic odysseys. Of all genomic testing methods, WGS offers the highest likelihood of finding a diagnosis.10 It provides the highest coverage of the human genome, not only in regions not covered by other methods, but even within regions targeted by other methods.11,12 This increased coverage at first-line usage has been shown to reduce the need for unnecessary iterative tests and reduce the length of stay in the NICU.13,14
WGS can also impact patient care. A change in management has been reported in 49–75% of pediatric outpatients who received a diagnosis by WGS.15,16
By publishing best practices, the Medical Genome Initiative aims to expand access to high-quality WGS for genetic disease diagnosis.Read Article
Sawyer was admitted to the NICU at birth, but he and his family left the hospital without a diagnosis. The next 8 years involved failed targeted sequencing, chromosomal microarray analysis (CMA), and whole-exome sequencing tests. Finally, whole-genome sequencing identified a TRIP12 variant causing Sawyer’s condition.Watch Video
After seven years and dozens of specialists, genetic tests, and MRIs, Sophia and her family were exhausted and left without an answer. Two years later, WGS enabled Sophia’s medical team to identify a WDR45 mutation and diagnose her with Beta-propeller protein-associated neurodegeneration (BPAN).Watch Video
Learn about evidence-based guidelines for exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability/developmental delay.View Flyer
Learn about recent society statements on genome-wide sequencing.View Table
Dr. Christian Marshall of The Hospital for Sick Children explains how laboratory and clinical best practices can enable whole-genome sequencing for genetic disease diagnosis.
Dr. Vandana Shashi of Duke University and Kimberly LeBlanc of the Undiagnosed Diseases Network discuss how WGS can short-circuit the diagnostic odyssey for patients with rare disease.
Dr. Shimul Chowdhury explains how rapid WGS can help pinpoint the causes of rare disease in children.
Pilot study of WGS in a national health care system showed an increase in diagnostic yield across a range of rare diseases.
Access to WGS doubled the proportion of patients with a precision diagnosis and a change of clinical management.
High diagnostic rates across multiple clinical entities in 3219 rare disease patients analyzed by WGS.
This collection of publications show WGS is the most comprehensive test for detecting multiple variant types in a single assay and that it can provide a genetic diagnosis faster than current genetic testing approaches in acutely ill infants and undiagnosed pediatric outpatients.View Summary Booklet