Table 1. Selected characteristics and outcomes of included studies.

Study	Year Published	Cancer	Country	Type of Model	N of Cohort Modeled	Age Profiles Modeled	Cost of PRS	Cost-Effectiveness Results
Hao et al29	2022	Prostate	Sweden	Microsimulation model (Prostata model)	10 million	From age 55 and followed up through remainder of lifetime	€251 including prostate-specific antigen (PSA) test analysis, GP visit, and test analysis	Stockholm3 test with a reflex threshold of PSA value ≥2 ng/ mL had the lowest ICER, €38,894 per QALY gained, in the base case analysis. Note: reflex testing refers to further diagnostic testing that may be prompted by an elevated PSA level.
Karlsson et al30	2021	Prostate	Sweden	Microsimulation model (Prostata model)	Not directly stated but references related work that refers to cohorts of 100 million men	From birth and followed up over lifetime	€255 (including GP visit)	Prostate cancer screening using the polygenic risk-informed Stockholm3 test for men with an initial PSA value of ≥2.0 ng/mL was cost-effective compared with screening using only PSA.
Hendrix et al31	2021	Prostate	United States	Microsimulation model (Fred Hutchinson Cancer Research Centre model)	100 million	Age 40 years (with different screening start ages of >40 years) and followed up till age 100 years. Screening assumed to stop at age 69 years	$250 based on commercial costs of the Prompt-PGS software	Cost-effectiveness of PRS- informed risk screening compared with universal screening depended on universal screening policy modeled. PRS-informed risk- stratified screening most likely to be cost-effective when universal screening is performed on an annual basis starting at age 55 years.
Thomas et al32	2021	Colorectal	England	Microsimulation model (MiMiCBowel).	6,787,000	Age ≥30 years, screening taking place at various ages depending on the strategy, risk-assessment assumed to be carried out at age 40 years.	No costs assigned to risk scoring, instead, cost analysis was carried out to determine maximum justifiable cost of implementing risk scoring in population at age 40 years.	PRS-informed screening was very likely to be cost-effective when used in conjunction with phenotypic information compared with screening strategies relying on phenotypic data alone.
Wong et al33	2021	Breast	Singapore	Markov model	3,014,388 individuals included in the model, Not otherwise reported	Women aged between 35 and 74 years	Genotyping of buccal swab assumed to cost SGD 210.	Compared with biennial mammogram-only screening, polygenic-risk informed screening had lower costs and higher QALYs and was very likely to be cost-effective.
Callender et al34	2021	Prostate	England	Life table cohort Markov model	4.48 million	Screening took place at age 55 to 69 years with follow up till age 90 years	£25 based on personal communication of tariffs used in the English National Health Service	Multiparametric MRI-first risk- stratified screening scenarios at risk thresholds of >3.5% were more cost-effective than no screening at a costeffectiveness threshold of £20,000. Strategies with highest net monetary benefit at cost-effectiveness thresholds of £20,000 and £30,000 were MRI-first risk- stratified screening at risk thresholds of 8.5% and 7.5%, respectively.
Cenin et al35	2020	Colorectal	Australia	Microsimulation model (the MISCAN-Colon model)	100 million	Age 40 years (and born in 1980) and followed up until age 100 years, at which point, individuals in the cohort were assumed to be dead, screening assumed to stop at age 74 years	Assumed cost £200 based on a commercially available polygenic test for breast cancer	Uniform screening was more likely to be cost-effective than PRS-informed risk-based screening. Personalized and uniform screening scenarios yielded similar QALYs. Personalized screening cost more than uniform screening, largely owing to the cost of determining risk.
Naber et al36	2019	Colorectal	United States	Microsimulation model (the MISCAN-Colon model)	Cohort described as consisting of >1 million simulated individuals, not otherwise reported	Age 40 years with US life expectancy, and followed up until death, screening modeled as ending between age 70 and 85 years	Assumed cost £200 based on currently available commercial polygenic tests	Polygenic risk-informed screening was unlikely to be cost-effective; this form of screening yielded same number of QALYs as uniform screening at increased costs.
Callender et al9	2019	Prostate	England	Life table cohort Markov model	4.48 million	Screening took place at age 55 to 69 years with follow up till age 90 years	£25, estimated from personal discussion of costs charged to NHS hospitals for prostate cancer genome wide associations studies	Risk-based screening was costeffective at a costeffectiveness threshold of £20,000 per QALY gained compared with no screening at all 10-year absolute risk thresholds of >4.5%. At all 10-year absolute risk of <10%, risk-based screening led to a greater number of incremental QALYs gained than age-based screening while incurring fewer additional costs at all risk thresholds >2%.
Pashayan et al37	2018	Breast	England	Life table cohort model	364,500	Age 50 years with follow up till age 85 years	£50, based on per variant research cost of genotyping	PRS-informed risk stratification at the 70th risk percentile had the highest net monetary benefit, with a 72% probability of being costeffective at a costeffectiveness threshold of £20,000.

ICER, incremental cost-effectiveness ratio; GP, general physician or general practitioner; MiMiC, microsimulation model in cancer; MISCAN, microsimulation screening analysis; MRI, magnetic resonance imaging; PRS, polygenic risk scores; QALY, quality-adjusted life years; SGD, Singapore dollar.