Table 2.

Details of Economic Evaluations of General Population

Condition	Gene(s)	Population	ICER*	Key Conclusion from Articles
Familial Hypercholesterolemia	LDLR, APOB, PSCK9	General Population (at 16 years old)	$22,154 (cost/life year gained) 22 $23,805 (cost/life year gained) 23	“When targeted on the young (16 year old school children), universal screening also appears relatively cost-effective. However, screening is less cost effective in 16-55 year olds with the least cost-effective in men aged over 35 years. This is because the gains in life expectancy for these individuals are small.” 22 “Screening family members of people with familial hypercholesterolemia is the most cost effective option for detecting cases across the whole population.” 23
		Opportunistic screening (16-55 years who visit their GP)	$104,502 (cost/life year gained) 22 $112,287 (cost/life year gained) 23
		General Population (16-55yo)	$116,200 (cost/life year gained) 22 $125,200 (cost/life year gained) 23
Lynch Syndrome	MLH1, MSH2, MSH6, PMS2	General Population (20yo, no risk)	$490,315 (cost/life year gained) 11	“Universal screening offered the greatest benefit in clinical outcomes, although it did so at the least attractive cost-effectiveness ratios. However, as the risk threshold for genetic testing was set to 5.0% and 10% (non-universal screening), the cost-effectiveness values fell below the benchmark of $50,000 per QALY. 11 “Results suggest that reflex testing for LS in newly diagnosed CRC patients aged < 50 years is cost-effective. Such testing may also be cost-effective in newly diagnosed CRC patients aged < 60 or < 70 years.” 40
		General Population (25yo, no risk)	$7,008,872 (cost/life year gained) 11
		General Population (no risk)	$129,852 (cost/life year gained)

^*ICERs from Marks 2000, 2002, and Snowsill 2014 were reported in GBP. They were converted to USD based on year end (Dec 31^st) conversion rates: 0.66 (2000), 0.62 (2002), 0.64 (2014).