Article Text

Original research
Impacts of genomics on the health and social costs of intellectual disability
  1. Brett Doble1,2,
  2. Deborah Schofield1,3,
  3. Carey-Anne Evans4,
  4. Tudor Groza5,
  5. John S Mattick1,6,
  6. Mike Field7,
  7. Tony Roscioli4,8
  1. 1 Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
  2. 2 Programme in Health Services and Systems Research, Duke-NUS Medical School, Singapore
  3. 3 GenImpact, School of Economics, Faculty of Business and Economics, Macquarie University, Sydney, New South Wales, Australia
  4. 4 Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Randwick, New South Wales, Australia
  5. 5 Pryzm Health, Gold Coast, Queensland, Australia
  6. 6 St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia
  7. 7 The Genetics of Learning Disability Service, Waratah, New South Wales, Australia
  8. 8 NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia
  1. Correspondence to Dr Brett Doble, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; brett.doble{at}


Background This study provides an integrated assessment of the economic and social impacts of genomic sequencing for the detection of monogenic disorders resulting in intellectual disability (ID).

Methods Multiple knowledge bases were cross-referenced and analysed to compile a reference list of monogenic disorders associated with ID. Multiple literature searches were used to quantify the health and social costs for the care of people with ID. Health and social expenditures and the current cost of whole-exome sequencing and whole-genome sequencing were quantified in relation to the more common causes of ID and their impact on lifespan.

Results On average, individuals with ID incur annual costs in terms of health costs, disability support, lost income and other social costs of US$172 000, accumulating to many millions of dollars over a lifetime.

Conclusion The diagnosis of monogenic disorders through genomic testing provides the opportunity to improve the diagnosis and management, and to reduce the costs of ID through informed reproductive decisions, reductions in unproductive diagnostic tests and increasingly targeted therapies.

  • cost analysis
  • intellectual disability
  • monogenic disorders
  • population genomic sequencing
  • whole-genome sequencing

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  • Contributors Conceptualisation: BD, DS, JSM and TR; methodology: BD, DS, TG, MF and TR; formal analysis and investigation: BD, C-AE, TG and MF; writing (original draft preparation): BD; writing (review and editing): DS, C-AE, TG, JSM, MF and TR; supervision: DS, JSM and TR; overall content guarantor: BD.

  • Funding TR, DS, MF, TG and C-AE were supported through the National Health and Medical Research Council (NHMRC) Centre for Research Excellence in Neurocognitive Disorders (grant ID 1117394).

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.