OBJECTIVES: To assess the impact and cost-effectiveness of offering population genomic screening to all young adults in Australia to detect heterozygous familial hypercholesterolemia (FH), hereditarian breast and ovarian cancer and Lynch Syndrome.

METHODS:

We designed a decision analytic model followed by lifetable Markov models to compare the current standard-of-care for FH, hereditarian breast and ovarian cancer and Lynch Syndrome diagnosis in Australia with the alternate strategy of population genomic screening of adults aged 18-40 years to detect pathogenic variants in the LDLR/APOB/PCSK9, BRCA1/2 and MLH1/2 genes. The model captured morbidity/mortality due to coronary heart disease (CHD), breast cancer, ovarian cancer, colorectal cancer and endometrial cancer over a lifetime horizon, from healthcare and societal perspectives. Prevalence, incidences, treatment effects, and healthcare costs were estimated from published studies. Outcomes included quality adjusted life years (QALYs), costs and incremental cost-effectiveness ratio (ICER), discounted 5% annually. Sensitivity analyses were undertaken to explore the impact of key input parameters on the robustness of the model.

RESULTS:

Over the populations lifetime (4,167,768 men; 4,129,961 women), the model estimated a gain of 72,198 years of life lived and 98,651 QALYs due to CHD and cancer prevention. With a cost-per-test of AU$200, population genomic screening would be cost-effective from a healthcare perspective, yielding an ICER <AU$9,925/QALY gained. From a societal perspective, population genomic screening would be cost-saving.

CONCLUSIONS:

Based on our model, offering population genomic screening to all young adults could be cost-effective, at testing costs that are feasible.