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.
|Number of pages||8|
|Journal||Journal of Medical Genetics|
|Publication status||Published - 1 Jul 2020|
- cost analysis
- intellectual disability
- monogenic disorders
- population genomic sequencing
- whole-genome sequencing
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The Economic and Psychosocial Impact of Caring for families affected by intellectual disability (THE EPIC-ID Study)
Deborah Schofield (Participant), Rupendra Shrestha (Participant), Mike Field (Participant), Tony Roscioli (Participant), Jan Mumford (Participant) & Sarah West (Participant)
Impact: Health impacts, Society impacts, Policy impacts