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End the diagnostic odyssey with exome

For a child with autism spectrum disorder (ASD), targeted testing misses the mark

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On average, a child with neurodevelopmental disorders waits over 6 years, accrues over $10,000 in additional health costs, and undergoes more than 5 uninformative tests on their path to a genetic diagnosis.1

Historically recommended tests like chromosomal microarray and panels miss the critical answers your patients are looking for, and a stepwise approach can delay diagnosis.2 Whole exome sequencing (WES) is recommended as a first-tier genetic test by the American College of Medical Genetics and Genomics (ACMG) for developmental delay, intellectual disability, and congenital anomalies and is warranted for other neurodevelopmental disorders like autism.3,4

Comprehensive genetic testing, like WES, can help patients with ASD reach a faster genetic diagnosis and help clinicians provide more timely, cost-effective, and comprehensive clinical evaluations.4,5

Exome testing can significantly reduce the time to an accurate genetic diagnosis – on average by 6-8 years – sparing pediatric patients years of searching for answers.5

For Clinicians

A genetic diagnosis helps providers identify, treat, and/or prevent co-occurring medical conditions, avoid unnecessary invasive testing, offer appropriate interventions to children with ASD.4,5

For Families

Patients and families can access prognostic information, evaluate potential recurrence risks, gain a better understanding of condition-specific information, and discover resources and communities with shared experiences.6,7,8 Surveys suggest that most parents of a child with ASD want genetic testing ordered.9,10

Narrow testing is missing the mark

An evaluation of 18,000 individuals with ASD revealed WES would have reduced the time to diagnosis for many patients if done first.2

  • WES provided a higher diagnostic rate for the patients with ASD (up to 21%)2
  • Nearly 90% of the patients had a previous genetic test with negative results2
  • While the American Academy of Pediatrics (AAP) recommends ASD screening between the ages of 18-24 months, the median age for a genetic diagnosis for this study was between 6 ½ and 8 ½ years old2,11

XomeDx® – The GeneDx Exome Test

Phenotype-driven evaluation of ~20,000 genes, captures information about both sequence and copy number variants (CNVs) in one test, effectively replacing the need for chromosomal microarray (CMA)

Save patients years of missed milestones and widening developmental gaps.

With comprehensive care from start to finish, we offer more than just a test result

Our dedicated team of genetic counselors provides peer-to-peer support as well as genetic counseling for GeneDx patients at no additional cost, or through our independent partners, pusuant to patient insurance requirements. Our interpretation services focus on providing clinically actionable results, so you can quickly apply findings to your patients’ care plans.

Your patients are looking for answers. Find them with GeneDx.

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References

  1. Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.
  2. Lindy A, Torene R, Retterer K, Kruszka P. Evaluation of 18,911 individuals with autism reveals that exome analysis provides higher diagnostic rates and reduced time to diagnosis than traditional testing strategies. Accepted abstract. American Academy of Neurology Annual Meeting. 2022. Seattle, WA.
  3. Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1.
  4. Srivastava S, Love-Nichols JA, Dies KA, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 Nov;21(11):2413–2421; https://doi.org/10.1038/s41436- 019-0554-6
  5. Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Front Pediatr. 2021 Feb 19;9:526779. doi: 10.3389/fped.2021.52679. eCollection 2021. doi: 10.3389/fped.2021.526779
  6. Sapp JC, Dong D, Stark C, et al. Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children. Clin Genet. 2014 Feb;85(2):120-6. doi:10.1111/cge.12254. Epub 2013 Sep 20.
  7. Wynn J, Ottman R, Duong J, et al. Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact. Clin Genet. 2018 May;93(5):1039-1048. doi:10.1111/cge.13200. Epub 2018 Mar 13.
  8. Halley MC, Young JL, Fernandez L, et al. Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics. Am J Med Genet A. 2022 Apr;188(4):1088-1101. doi:10.1002/ajmg.a.62619. Epub 2022 Jan 3.
  9. Harrington JW, Emuren L, Restaino K, et al. Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders. Clin Pediatr (Phila). 2018 Dec;57(14):1642-1655. doi: 10.1177/0009922818803398. Epub 2018 Sep 28.
  10. Zhao S, Chen WJ, Dhar SU, et al. Pursuing genetic testing for children with autism spectrum disorders: What do parents think? J Genet Couns. 2021 Apr;30(2):370-382. doi: 10.1002/jgc4.1320. Epub 2020 Sep 28.
  11. Hyman SL, Levy SE, Myers SM. Identification, Evaluation, and Management of Children with Autism Spectrum Disorder. Pediatrics. 2020 Jan;145(1):e20193447. doi: 10.1542/peds.2019-3447. Epub 2019 Dec 16.
  12. Total commercial payer targets represent >93% of commercially insured lives in US. Based on covered life data from DRG database accessed on September 13, 2022.
  13. Internal data.