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Transform patient care with rapid genome sequencing

1 in 4 infants in the intensive care unit likely have a genetic disorder1

Infants with genetic disorders often experience a higher risk of mortality, increased resource utilization, and prolonged hospital stays.2,3 For critically ill infants, rapid genome sequencing can enable an early and precise diagnosis, transforming patient care and improving outcomes.

Genome finds answers that other tests can miss

Rapid genome is the most powerful diagnostic tool for quickly uncovering a genetic condition in infants.

2x more effective at uncovering genetic conditions than multigene panels4

90% of diagnoses made by rapid genome sequencing would not have been predicted by clinical features alone5

Implementing rapid genome is proven to:

Change medical management for up to 61% of babies6

Reduce healthcare costs up to $15,786 per child 6

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Genome is recommended as a first-line test

  • The International Precision Child Health Partnership (IPCHiP) recommends genome or exome as a first-line test for NICU patients with unexplained hypotonia.8
  • The American College of Medical Genetics and Genomics (ACMG) recommends genome or exome as a first-line test for developmental delay, intellectual disability, and congenital anomalies.10
  • The National Society of Genetic Counselors (NSGC) recommends genome or exome as a first-line test for all individuals with unexplained epilepsy and this guideline is endorsed by the American Epilepsy Society (AES).11

With comprehensive care from start to finish, GeneDx offers more than a test result. Experience the GeneDx difference and help your patients find answers.

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References

  1. Kingsmore SF, Cakici JA, Clark MM, et al. Am J Hum Genet. 2019 Oct 3;105(4):719-733. doi:10.1016/j.ajhg.2019.08.009. 
  2. Farnaes L, Hildreth A, Sweeney NM, et al. NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525-018-0049-4. 
  3. NICUSeq Study Group et al. JAMA Pediatr. 2021;175(12):1218-1226. doi:10.1001/jamapediatrics.2021.3496.  
  4. Maron JL, Kingsmore S, Gelb BD, et al. JAMA. 2023;330(2):161–169. doi:10.1001/jama.2023.9350. 
  5. French CE, Delon I, Dolling H, et al. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. 
  6. Dimmock D, Caylor S, Waldman B, et al. Am J Hum Genet. 2021 Jul 1;108(7):1231-1238. doi:10.1016/j.ajhg.2021.05.008.  
  7. Lunke S, Bouffler SE, Patel CV, et al. Nat Med. 2023 Jul;29(7):1681-169. doi: 10.1038/s41591-023-02401-9. 
  8. Morton SU, Christodoulou J, Costain G, et al. JAMA Neurol. 2022 Apr1;79(4):405-412. doi:10.1001/jamaneurol.2022.0067. 
  9. D’Gama AM, Mulhern S, Sheidley BR, et al. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. 
  10. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242.  
  11. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24; 32:266–280. Doi.org/10.1002/jgc4.1646.