Healthcare costs of early vs late genetic testing
Reviewed by Ian Reekie

This is a retrospective observational cohort study of the relative healthcare costs incurred by early vs late genetic testing for inherited retinal diseases in a population of patients from the USA. Three hundred and ten patients with a genetically confirmed inherited retinal disease were divided into early testing (<12 months since presentation) and late testing (>12 months) groups. The authors then compared the mean and median all-cause healthcare costs as well as the ocular related healthcare costs between the 2 groups, and identified that the late test group bore higher costs than the early test group. This study was conducted in the USA, which has a very different funding model for healthcare to the UK and many other countries, so the economic factors at play may not be directly relevant to non-US systems. In addition, though the mean healthcare costs were substantially different in the compared groups they were not compared by statistical methods, and the standard deviations were large. Finally, the authors were employees of major pharmaceutical companies, who may have an interest in encouraging increased rates of genetic testing.

The timing of genetic testing and healthcare costs associated with the diagnostic journey of inherited retinal disease. 
Zhang Q, Lum K, Cai Q, et al. 
OPHTHALMIC GENETICS 
2026;47(2):147–54.