Two-Fold Increase in Diagnosis and Change of Management

Finding the right diagnosis for a patient with a rare genetic disease can lead to improved clinical management. WGS has shown to have a higher diagnostic efficacy, changing clinical management for NICU patients by two-fold compared to standard testing.3 Introducing WGS in the NICU changes the strategy for the most vulnerable babies affected by suspected genetic disease.

Based on the NICUSeq Study Group.3
Average Time to Diagnosis using WGS vs Standard Genetic Tests in Critically-ill Patients*,4
*Labs that offer rapid WGS vary in turn around time.

Faster Answers with WGS

Compared to standard genetic testing, WGS has a higher diagnostic yield (3%-20% vs 31%-57%, respectively)* and can provide critically-ill infants an increased likelihood of receiving a diagnosis.3-7 Offering WGS as a first-tier test early in the NICU admission when the underlying etiology is unclear can lead to a shorter time to diagnosis and inform care faster.

*diagnostic yield may vary based on cohort and individual disease states.
Average Time to Diagnosis using WGS vs Standard Genetic Tests in Critically-ill Patients*,4
*Labs that offer rapid WGS vary in turn around time.

A Timely Diagnosis May Help Avoid Unnecessary Tests or Procedures & Reduce Length of Stay

Undiagnosed NICU patients with genetic disorders have shown to have higher resource utilization and longer hospital stays. Families may undergo financial hardship while hospitals absorb additional costs due to limited reimbursement.

However, enabling early intervention and improved clinical outcomes with WGS may facilitate patient workups and minimize medical costs by potentially reducing the length of stay and the need for other tests or procedures.

*estimated using data from multiple peer-reviewed publications.6,8

your diagnostic potential

Impact of WGS on Clinical Management in the NICU

Learn how five children’s hospitals in the US had NICU care improved with whole-genome sequencing.

Learn More
References
  1. Shire Diagnosis Initiative. The Global Challenge of Rare Disease Diagnosis. https://sc8-cms-shire-com.shirecontent.com/-/media/shire/shireglobal/shirecom/pdffiles/patient/shire-diagnosis-initiative-hcp-leaflet.pdf
  2. Posada De La Paz, M. et al. Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology. 2017; 1031:589-604.
  3. NICUSeq Study Group, Krantz ID, Medne L, et al. Effect of Whole-Genome Sequencing on the Clinical Management of AcutelyIll Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021;175(12):1218-1226. doi:10.1001/jamapediatrics.2021.3496
  4. Petrikin JE, Cakici JA, Clark MM, et al. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med. 2018;3:6. doi:10.1038/s41525-018-0045-8
  5. Wu, B, Kang W, Wang Y, et al. Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rateand Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project. Crit Care Med. 2021;49(10):1674-1683.doi:10.1097/CCM.0000000000005052
  6. Farnaes L, Hildreth A, Sweeney NM, et al. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med. 2018;3:10. doi:10.1038/s41525-018-0049-4
  7. Willig LK, Petrikin JE, Smith LD, et al. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015;3(5):377-387. doi:10.1016/S2213-2600(15)00139-3
  8. Dimmock et al. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. The American Journal of Human Genetics. 2021:108:1-8.