Evidence Needs for Evaluating the Cost-Effectiveness of Adult Population Genomic Screening

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A key promise of public health genomics is that knowledge of prevalent highly penetrant genotypes for which preventive interventions are readily available, e.g., BRCA1/BRCA2 variants and Lynch syndrome, can lead to important population health gains. However, the fulfillment of that promise has been seriously constrained by low numbers of individuals being identified with those genotypes through risk factor-based testing. With the reduction in the cost of genomic sequencing initiatives have increasingly sought to offer sequencing to adults in high-income countries. Cost-effectiveness analyses (CEAs) have concluded that such testing is likely to be cost-effective by usual criteria. However, the strength of evidence is low. Researchers have assessed hypothetical testing strategies and made assumptions about the uptake of testing and of preventive measures conditional on the knowledge of genomic risks. Demonstration of value for money will require accurate estimates of programmatic implementation costs, real-world uptake of sequencing, the frequency and timing of prophylactic practices among individuals identified through population screening initiatives, and the effectiveness of preventive practices. The presentation will discuss several published CEAs and focus on influential explicit and implicit parameters for which empirical evidence is still needed.

Speaker:

Dr Scott Grosse is a health economics and outcomes researcher.

After doctoral studies in public health and economics at the University of Michigan, he joined the CDC in 1996 and retired at the end of 2024. He has co-authored roughly 300 journal articles, many of which addressed outcomes and costs associated with newborn screening conditions and the impact of early detection. For more than a decade he was part of the Evidence-based Review Group that conducted evidence syntheses for conditions nominated for the US Recommended Uniform Screening Panel for newborn screening. In addition to his own research, he collaborated with CDC’s Office of Public Health Genomics and Muin Khoury on seminal papers on the clinical and diagnostic utility and assessments of testing for hereditary disorders in adults. He is a member of the International Health Economics Association, ISPOR, the International Society for Neonatal Screening and the International Consortium on Newborn Sequencing.