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Targeted leukodystrophy diagnosis based on charges and yields for testing.

Jackson Richards1, E Kent Korgenski2, Ryan J Taft3

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|July 18, 2015
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Summary

Diagnosing inherited leukodystrophies in children is costly, with average charges of $8,231 per patient. Incorporating next-generation sequencing (NGS) into diagnostic strategies can significantly reduce costs and the time to diagnosis.

Keywords:
chargesdiagnostic odysseyleukodystrophytesting

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Area of Science:

  • Neurology
  • Genetics
  • Medical Diagnostics

Background:

  • Inherited leukodystrophies are severe neurological disorders impacting children.
  • Diagnostic odysseys are common, leading to prolonged uncertainty for families.
  • Current diagnostic charge data and yield for leukodystrophies are lacking.

Purpose of the Study:

  • To determine the financial charges associated with diagnosing inherited leukodystrophies in children.
  • To evaluate the diagnostic yield of current testing methods.
  • To compare these costs with next-generation sequencing (NGS) based approaches.

Main Methods:

  • Retrospective analysis of inpatient and outpatient diagnostic testing charges in pediatric leukodystrophy patients.
  • Quantification of all lab tests and brain MRIs used for diagnosis.
  • Comparison of current costs with simulated NGS and tiered biochemical/NGS strategies.

Main Results:

  • Average diagnostic charges per patient were $8,231, totaling $526,794 for the cohort.
  • A final etiological diagnosis was achieved in only 34% of patients, with an average time to diagnosis of 1.4 years.
  • Simulated NGS approach estimated costs of ~$359,600; a tiered biochemical/NGS approach estimated $361,309.

Conclusions:

  • Current diagnostic testing for inherited leukodystrophies is expensive and has a low diagnostic yield.
  • Integrating next-generation sequencing (NGS) into diagnostic algorithms can potentially reduce costs.
  • NGS-based strategies may also decrease the time to diagnosis and the overall number of tests performed.