The Diagnostic Odyssey

The diagnostic odyssey is a common thread that connects all rare disease patients and families. Unfortunately, many individuals affected by rare disease are likely to go undiagnosed or misdiagnosed. The current standard of care through iterative genetic testing is less effective than whole-genome sequencing as a first tier test and may not end the diagnostic odyssey.

On average, the long search for a rare disease diagnosis—the “diagnostic odyssey”:
May involve multiple tests1
Includes up to eight physicians2
Take four to six years1-4
One or more misdiagnoses2,4

The Burden of Genetic Disease in the NICU

of live births are affected by Genetic Disorders and Congenital Anomalies5-7
of neonatal and pediatric admissions are secondary to birth defects or a genetic condition8-10
of NICU deaths are related to rare genetic diseases8,10,12
$12K – $77K additional hospital costs per patient in the NICU13

Who’s Affected by Rare Disease

of rare diseases are exclusively pediatric onset6
of rare diseases are exclusively adult onset6
of rare diseases are onset in both adult and pediatric groups6

A Promising

with WGS

Reduce the Diagnostic Odyssey: Answers in 72 Hours

Nathaly M. Sweeney, MD, MPH, MS, FAAP is a neonatologist at the University of California, San Diego (UCSD)/Jacobs Medical Center/Rady Children’s Hospital discusses the arc of rapid WGS through the story of a teenage girl with a rare cardiac disease.

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References
  1. Global Commission on Rare Disease. Global commission to end the diagnostic odyssey for children with a rare disease. globalrarediseasecommission.com/. Accessed January 6, 2023.
  2. Faye, F., Crocione, C., Anido de Peña, R. et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-024-01604-zes.org/rare-diseases-facts-statistics/. Accessed August 5, 2024.
  3. EveryLife Foundation for Rare Diseases. The cost of delayed diagnosis in rare disease: A health economic study. https://everylifefoundation.org/wp-content/uploads/2023/09/EveryLife-Cost-of-Delayed-Diagnosis-in-Rare-Disease_Final-Full-Study-Report_0914223.pdf. Published September
  4. Zurynski Y, Deverell M, Dalkeith T, Johnson S, Christodoulou J, Leonard H, Elliott EJ; APSU Rare Diseases Impacts on Families Study group. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet J Rare Dis. 2017 Apr 11;12(1):68. doi: 10.1186/s13023-017-0622-4. PMID: 28399928; PMCID: PMC5387276. 14, 2023. Accessed August 5, 2024.
  5. Eurodis Rare Diseases Europe. About rare diseases. https://www.eurordis.org/information-support/what-is-a-rare-disease/. Accessed August 5, 2024
  6. Wakap, S, Lambert DM, Orly A, et al. Europ J Hum Genet.2019: https://doi.org/10.1038/s41431-019-0508-0.
  7. Ferreira CR. The Burden of Rare Diseases. American Journal of Medical Genetics. 2019;179(6):885-892.
  8. Bick D, Jones M, Taylor SL, et al. Journal of Medical Genetics. 2019.
  9. Gunne, E., McGarvey, C., Hamilton, K. et al. A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland. Orphanet J Rare Dis 15, 311 (2020). https://doi.org/10.1186/s13023-020-01574-7 Page
  10. Gjorgioski, S., Halliday, J., Riley, M. et al. Genetics and pediatric hospital admissions, 1985 to 2017. Genet Med 22, 1777–1785 (2020). https://doi.org/10.1038/s41436-020-0871-9
  11. Owen MJ, Wright MS, Batalov S, et al. Reclassification of the etiology of infant mortality with whole-genome sequencing. Jama Netw Open. 2023;6(2):e2254069.
  12. Arth AC, Tinker SC, Simeone RM, Ailes EC, Cragan JD, Grosse SD. Inpatient Hospitalization Costs Associated with Birth Defects Among Persons of All Ages – United States, 2013. MMWR Morb Mortal Wkly Rep. 2017;66(2):41-46.
  13. Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ. Estimating the burden and economic impact of pediatric genetic disease. Gen Med. 2018