Intellectual Disability (ID) is among the most important unmet challenges in healthcare due to its prevalence, lifelong nature and frequency of recurrence.
We anticipate that whole genome sequencing will diagnose >50% of patients with ID, and substantially reduce the time to diagnosis if applied earlier in the diagnostic cascade, which will have a number of substantial benefits: improved care from receiving a precise diagnosis, the potential for treatment interventions, reduced costs from unproductive genetic testing, stronger family units through the identification of de novo mutations, providing increased reproductive confidence for family planning.
The adoption of genomic medicine in routine healthcare will require detailed economic analyses to understand and model these impacts.
Professor Deborah Schofield is an internationally renowned health economist who through her position at the Garvan Institute is developing health economic models to define the costs and benefits to our health system through genomic testing. Prof Schofield is working with A/Prof Marcel Dinger, Dr Mark Cowley from KCCG, to diagnose families from the Genetics of Leaning Disability (GoLD) consortium, led by Dr Mike Field. Additional collaborators include Professor John Mattick, A/Prof Tony Roscioli, Prof Michael Buckley, A/Prof Nadine Kasparian, A/Prof Kristine Barlow-Stewart, Dr Michael Field, and Dr Rupendra Shrestha.