Health economic evaluation in rare disease genomics: an international perspective

The recent health economic evaluation of whole-exome sequencing in clinical genetics published by the PHG Foundation provides a valuable UK perspective to the emerging body of health economics studies in rare disease genomics.

The diagnostic and clinical utility of genomic sequencing for rare disease diagnostics is well recognised. However there is a need to develop sustainable funding models and provide evidence of cost effectiveness to support the widespread implementation of genomic sequencing in routine healthcare, as advocated in the recent report by the UK’s Chief Medical Officer, Generation Genome.