Table 2

Funding comparisons across countries for WES/WGS for suspected genetic diseases

ThemesUKCanadaUSA
Current funding
  • Funding provided at national level for WES and WGS w/in National Health Service

  • WES funding varies by province and generally requires preapproval

  • WGS generally not covered

  • Funding varies by payer and test type/clinical scenario

  • Greater funding of WES versus WGS and for rapid WES in neonatal intensive care (NICU)

Key factors influencing funding
  • 100 000 Genomes Project provided evidence of increased diagnostic yield and reduced costs

  • Political support to invest in genomic testing and infrastructure

  • WES emerged from funding of multigene panels for other conditions

  • WGS funding has been viewed as infeasible due to higher cost

  • Evidence of clinical utility, particularly for rapid testing in the NICU

  • Acceptance by payers of broader measures of clinical utility

Solutions for challenges
  • Mainstreaming and coordinating testing through centralised labs, test directory and clinical services

  • Developing consistent policies for patients with the same conditions

  • Mainstreaming and centralising testing through development of infrastructures and clinical workflows to enable in-province test processing

  • Developing infrastructure for timely testing to enhance equitable access

  • Use of inclusionary, consensus-building approach with stakeholders

  • Focus on developing narrowly defined coverage policies that are not only medically appropriate but also feasible to implement

  • WES, whole-exome sequencing; WGS, whole-fenome sequencing.