Genetic Risk Profiling May Be Cost-Effective for Identifying POAG

Using polygenic risk scores to identify and treat primary open-angle glaucoma is likely a cost-effective strategy.

Incorporating polygenic risk scores into primary open-angle glaucoma (POAG) screening may be cost-effective and reduce economic burdens on individuals and society, according to a study published in Eye. This may mitigate costs associated with falls, depression, unemployment, and other factors that individuals experiencing vision loss from POAG might experience, the report suggests. 

Investigators sourced data from the Office for National Statistics and Australian Bureau of Statistics and included residents of Australia (n=11,782,538) and the UK (n=33,618,730) in this analysis. The team used a Markov modeling approach to evaluate the cost-effectiveness of incorporating polygenic risk scores into POAG screening and set the willingness to pay thresholds at $54,808 and 30,000 pounds (£) for Australia and the UK, respectively.

“[P]revious economic modeling has shown that population-based clinical screening programs are not currently cost-effective in most high-income countries such as the UK and the US due to high implementation costs and the disproportionate disease burden in the older population,” according to the researchers. “Given that POAG is one of the most heritable human diseases, genetic profiling presents as a unique means to risk stratify and prioritize clinical screening of individuals.”

The model predicted that using polygenic risk score for POAG screening yielded 1 quality-adjusted life year (QALY) gained at a cost of $34,252 (95% CI, $21,324-$95,497) in Australia and £24,783 (95% CI, £13,373- £66,960) in the UK. The researchers determined this screening method was 79.2% likely to be cost-effective in Australia and 60.2% likely to be cost effective in the UK, according to the report.

Given that POAG is one of the most heritable human diseases, genetic profiling presents as a unique means to risk stratify and prioritize clinical screening of individuals.

Using polygenic risk screening may also prevent 1 year of blindness at an incremental cost-effectiveness ratio (ICER) of $13,359 (95% CI, $8143-$37,448) and £10,095 (95% CI, £5513-£27,656) — both values are approximately one-third of the gross domestic products of Australia and the UK, respectively, the report shows.

The investigators did observe that using polygenic risk scores during screening became less cost-effective among patients aged 40 to 49 years and individuals older than 80 years.

“Our proposed program incurs a one-off genetic test for each participant, and selects a high-risk subpopulation for regular surveillance,” according to the researchers. “This reduces the number of people incurring screening every 3 to 5 years and reduces the cost compared to previous screening models. As a result, our proposed program would fit the recommendation of targeting high-risk populations at a frequent interval for the POAG screening.”

Study limitations include difficulty in determining willingness to pay thresholds and failure to consider factors that were beyond the scope of modeling. 

Disclosure: Multiple authors declared affiliations with biotech, pharmaceutical, and/or clinical research organizations. Please refer to the original article for a full list of authors’ disclosures.


Liu Q, Davis J, Han X, et al. Cost-effectiveness of polygenic risk profiling for primary open-angle glaucoma in the United Kingdom and Australia. Eye. Published online December 13, 2022. doi:10.1038/s41433-022-02346-2