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Editors Selection IGR 21-4
Health economics: Polygenic risk profiling: is it cost-effective?
Comment by Janey Wiggs on:
106636 Cost-effectiveness of polygenic risk profiling for primary open-angle glaucoma in the United Kingdom and Australia, Liu Q; Davis J; Han X et al., Eye, 2023; 37: 2335-2343
Polygenic risk scores (PRS) use genetic information derived from well-powered GWAS to risk stratify populations.1 For POAG, individuals with high genetic burden as defined by a PRS are diagnosed earlier, have thinner nerve fiber layer and are more likely to require surgical intervention for management.2 Therefore, PRS profiling could have significant impact on POAG prevention and early detection and intervention, all factors that could also favorably impact the costs of POAG care. To explore the potential cost benefits of PRS screening and risk stratification, in this study by Liu et al., a Markov cohort model was used to evaluate the cost-effectiveness of using PRS screening for glaucoma in the UK and in Australia. The main outcome measure was the incremental cost-effectiveness ratio (ICER) and secondary outcomes were years of blindness avoided and a 'Blindness ICER'. The model included a 'one-off' genetic test that selects a high-risk group for regular surveillance/treatment and maintains standard of care for low risk individuals. The results suggest that the PRS is a likely cost-effective screening tool for the current Australian population age above 50, and is potentially cost-effective in the UK with ICERs of AU $ 34,252 and £ 24,783 respectively. There are several assumptions that could limit the study significance including reliance on an estimation of the Australia 'Willingness to Pay' value and uncertainty regarding the computational costs for a currently nonexistent test. Nevertheless, this study suggests that PRS genetic profiling is likely to be cost-effective when compared to current standards and that using PRS as a risk stratification tool could also result in more comprehensive detection of people at high disease risk.
References
- Craig JE, Han X, Qassim A, et al. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet. 2020;52:160-166.
- Khera AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018;50:1219-1224.
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