Cost-Effectiveness of Polygenic Risk Profiling for Primary Open-Angle Glaucoma in the United Kingdom and Australia

Abstract

Background: Primary open-angle glaucoma (POAG) is the most common subtype of glaucoma worldwide. We evaluate the cost-effectiveness of polygenic risk score (PRS) profiling as a screening tool for POAG. Methods: We used a Markov cohort model to evaluate the cost-effectiveness of implementing PRS screening in the UK and Australia, conducted from the healthcare payer’s perspective. We used published data to calculate prevalence, transition probabilities, utility and other parameters for each health state and age group. Our main outcome measure was the incremental cost-effectiveness ratio (ICER) and secondary outcomes were years of blindness avoided and a ‘Blindness ICER’. We did one-way as well as two-way deterministic and probabilistic sensitivity analyses. Results: Our proposed genetic screening programme for POAG in Australia is predicted to result in ICER of AU$34,252 (95% CI AU$21,324-95,497) and would avoid 1 year of blindness at ICER of AU$13,359 (95% CI: AU$8,143-37,448). In the UK, this screening is predicted to result in ICER of £24,783 (13,373-66,960) and would avoid 1 year of blindness at ICER of £10,095 (95%CI: £5,513-27,656). Findings were robust in all sensitivity analyses. Using the willingness to pay thresholds of $54,808 and £30,000, the proposed screening model is 79.2% likely to be cost-effective in Australia and is 60.2% likely to be cost-effective in the UK, respectively. Interpretation: We describe and model the cost-efficacy of incorporating a polygenic risk score for POAG screening in Australia and the UK for the first time and results indicated this is a promising cost-effectiveness strategy. Funding Statement: We had funding from a NHMRC Program grant (1150144), Partnership grant (1132454) and a Centre for Research Excellence grant (1116360). Declaration of Interests: S.M., J.E.C., and A.W.H. are listed as co-inventors on a patent application (WO2019241844A1) for the use of genetic risk scores to determine risk and guide treatment for glaucoma.