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Last Posted: Jun 08, 2023
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Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.
Gregory F Guzauskas et al. Ann Intern Med 2023 5

The cost-effectiveness of screening the U.S. population for Centers for Disease Control and Prevention (CDC) Tier 1 genomic conditions is unknown. We estimated the cost-effectiveness of simultaneous genomic screening for Lynch syndrome (LS), hereditary breast and ovarian cancer syndrome (HBOC), and familial hypercholesterolemia (FH). We found that population genomic screening with a restricted panel of high-evidence genes is likely to be cost-effective in U.S. adults younger than 40 years if the testing cost is relatively low and probands have access to preventive interventions.

Cost-effectiveness of Pharmacogenomic Testing: How to Measure the Value of Having the Right Dose of the Right Drug for the Right Patient
L Shi et al, CDC Blog Post, May 8, 2023 Brand

A recent systematic review that assessed the cost-effectiveness of pharmacogenetic testing for drugs with existing guidelines concluded that most studies favored pharmacogenomic testing. The significance of this conclusion must be interpreted with caution and in the context of study factors, such as funding sources, geography, cohort, and the cost-effectiveness comparisons being made.

Cost-effectiveness and Return on Investment of a Nationwide Case-Finding Program for Familial Hypercholesterolemia in Children in the Netherlands.
Zanfina Ademi et al. JAMA Pediatr 2023 5

In this economic evaluation of a hypothetical population of 1000 FH children aged 10 years, nationwide case finding was associated with saved lives and improved quality of life over a lifetime. The incremental cost-effectiveness ratio for cascade screening and initiation of treatment with statins in children vs later detection and treatment was €9220 ($10?050) per quality-adjusted life-year gained, that from a health care perspective and a societal perspective was cost saving and the return on investment for the detection and treatment program for FH in children was €8.37 ($9.12).

A systematic review of economic evaluations of whole-genome sequencing for the surveillance of bacterial pathogens.
Vivien Price et al. Microbial genomics 2023 2 (2)

Six hundred and eighty-one articles were identified, of which 49 proceeded to full-text screening, with 9 selected for inclusion. All had been published since 2019. Heterogeneity was high. Five studies assessed WGS for hospital surveillance and four analyzed foodborne pathogens. Four were cost-benefit analyses, one was a cost-utility analysis, one was a cost-effectiveness analysis, one was a combined cost-effectiveness and cost-utility analysis, one combined cost-effectiveness and cost-benefit analyses and one was a partial analysis. All studies supported the use of WGS as a surveillance tool on economic grounds.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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