Australian study shows combined genomic screening for major hereditary diseases is cost-effective and health-saving

By Vijay Kumar MalesuNov 12 2023Reviewed by Sophia Coveney In a recent study published in the journal EClinicalMedicine, a group of researchers evaluated the cost-effectiveness and health impact of implementing a combined genomic screening program for hereditary breast and ovarian cancer , Lynch syndrome , and familial hypercholesterolemia in young Australian adults, within the national public healthcare system.

About the study Researchers developed three decision-analysis models with Markov components to investigate outcomes related to pathogenic variants for HBOC in Breast Cancer 1 and BRCA2 genes; LS in MutL Homolog 1 and MutS Homolog 2 genes for colorectal and endometrial cancer; and FH in LDLR , Apolipoprotein B , and Proprotein Convertase Subtilisin/Kexin Type 9 genes for coronary heart disease .

Related StoriesRisk reduction followed Australian guidelines, with intervention uptake reflecting published data and models targeted the incremental cost-effectiveness ratio in terms of cost per quality-adjusted life year against an AU$50,000/QALY threshold, including life years and cancer/CHD incidents prevented by screening.

Vitality was tested through scenario and sensitivity analyses, which included Monte Carlo simulations to determine factors affecting cost-effectiveness. The analyses were from a healthcare perspective with a 5% annual discount. Translated to a per-100,000-person basis, this meant 63 fewer cancer cases, 31 fewer CHD cases, and 97 fewer deaths. In terms of life years, genomic screening could yield an additional 20,553 years of life and 31,094 QALYs compared to the status quo, equating to 494 more years lived and 747 more QALYs per 100,000 individuals tested.

Scenario analyses explored the cost-effectiveness of expanding population genomic screening to different age ranges. Extending screening to ages 18–50 or 25–50 remained cost-effective, with ICERs significantly below the willingness-to-pay threshold.

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