Impacts of genomics on the health and social costs of intellectual disability.
Brett DobleDeborah SchofieldCarey-Anne EvansTudor GrozaJohn S MattickMike FieldTony RoscioliPublished in: Journal of medical genetics (2020)
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.