Genomic screening for hereditary conditions is cost-effective in young adults

1. In this decision analysis model, population screening for three common hereditary conditions was cost-effective in adults younger than 40.

2. Population genomic screening was particularly cost-effective if probands had access to preventative care.

Evidence Rating Level: 1 (Excellent)

Study Rundown: Population genomic screening for Lynch Syndrome (LS), hereditary breast and ovarian cancer syndrome (HBOC), and familial hypercholesterolemia (FH) has been proposed as these conditions have a high lifetime incidence of cancer or cardiovascular disease and have proven risk-reducing interventions. Notably, these are high-risk autosomal dominant conditions and there is a gap in knowledge as to understanding the clinical and economic value of screening for these conditions in the United States young adult population. Overall, this study found that genomic screening for these three conditions is likely to be cost-effective with an appropriate test cost for United States adults younger than 40 years. This study was limited by the prevalence and penetrance of monogenic risks being informed by data from European ancestry cohorts. Further, additional genomic data from diverse populations is needed. These study’s findings are significant, as they demonstrate that population genomic screening for these three common hereditary conditions can be cost-effective and clinically useful in the United States if implemented at a fair cost.

Click to read the study in AIM

Relevant Reading: Summary for Patients: Population Genomic Screening for Three Common Hereditary Conditions

In-Depth [decision analysis model]: This decision analysis modeling study used computer simulations of the clinical history of 100,000 persons that were racially and ethnically representative of the United States population to assess the cost-effectiveness of genomic screening for LS, HBOC, and FH. In this model, 1.5% of the persons had LS, HBOC, or FH variants. This was chosen according to studies of biobank participants and a recent update of the Healthy Nevada Project screening study cohort. The primary outcome measured was the cost-effectiveness of population genomic screening for the aforementioned Centers for Disease Control and Prevention Tier 1 conditions in United States adults compared with usual care, in which persons with a high-risk family history could receive genetic or phenotypic testing based on established clinical guidelines. Outcomes in the primary analysis were assessed via lifetime disease incidence, quality-adjusted life-years (QALYs), and direct medical costs with incremental cost-effectiveness ratios and sensitivity analyses. Based on the primary analysis, screening 30-, 40-, and 50-year-old cohorts was cost-effective in 99%, 88%, and 19% of probabilistic simulations, respectively, at a $100,000-per-QALY threshold. The test costs at which screening 30-, 40-, and 50-year-olds reached the $100 000-per-QALY threshold were $413, $290, and $166, respectively. In summary, this study demonstrates that population genomic screening for LS, HBOC, and FH can be cost-effective in adults younger than 40 years if the testing cost is relatively low.

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