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Transform patient care with rapid genome sequencing

1 in 4 infants in the intensive care unit likely has 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

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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

Get rapid results with genome

GenomeXpress®, the GeneDx rapid genome test, provides results within 5 days*, which allows for even more timely diagnoses and treatment.

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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

Meet Anne†

Anne was born with colonic atresia, a congenital anomaly that required immediate surgical repair. Following her surgery, she was transferred to the NICU for post-operative care. Despite this, she faced additional complications and her recovery was slower than anticipated–without an obvious cause. Discover how her medical team used rapid genome sequencing to identify the underlying cause of her symptoms and develop the appropriate treatment plan.

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Meet Luca†

Luca was experiencing respiratory distress and hypoglycemia at birth. He was immediately transferred to the NICU for monitoring and ongoing care. His outcome would have been vastly different without early rapid genome sequencing.

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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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*Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

†Case study is based on GeneDx patient testing, with all identifying information removed.

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.