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Health Equity PHGKB

Specific PHGKB|Economic Evaluation PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Effective August 1, 2024, this database will be discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.

Last Posted: Jul 25, 2024
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Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
(Posted Jul 15, 2024 9AM)

From the abstract: "Is diagnosis from genome-wide sequencing associated with reduced health care costs for children with suspected rare diseases? Findings: In this cohort study of 3 groups of children who underwent genome-wide sequencing in England (7775 children in a research study) or Canada (118 children who received publicly funded sequencing and 77 children in a research study), diagnosis from genome-wide sequencing was not associated with changes in health care or diagnostic costs. Meaning: These findings suggest that sustainable clinical implementation of genome-wide sequencing must be motivated by evidence of patient and family benefit and cost-effectiveness rather than promises of cost savings from earlier diagnosis. "

Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.
Marije A van der Geest et al. Eur J Hum Genet 2024 3 (Posted Mar 18, 2024 9AM)

From the abstract: "In total, we identified nine ELSI aspects, such as (perceived) professional responsibilities, implications for consent and cost-effectiveness. The identified ELSI aspects brought forward necessary trade-offs for GHPs to consciously take into account when considering responsible implementation of systematic reanalysis of NGS data in routine diagnostics, balancing the various strains on their laboratories and personnel while creating optimal results for new and former patients. "

Improving Noninvasive Colorectal Cancer Screening.
John M Carethers et al. N Engl J Med 2024 3 (11) 1045-1046 (Posted Mar 14, 2024 10AM)

From the article: "Screening for colorectal cancer saves lives. Screening tests have evolved to include stool-based, endoscopic and image-based, and blood-based methods, with minimal thresholds for sensitivity and specificity for colorectal cancer set by the baseline characteristics of FIT. Although multiple tests have been developed over time and vary in cost-effectiveness for colorectal cancer screening, the best screening test is the one that gets completed by the patient. Most of the recommended tests, including the two newer tests assessed in the studies now published in the Journal, improve on the sensitivity and approach the specificity of FIT. "

Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.
Fangjian Guo et al. JAMA Netw Open 2024 2 (2) e2356078 (Posted Feb 15, 2024 9AM)

From the abstract: "Is a population-wide genetic testing strategy more cost-effective than the current family history–based testing strategy for breast and ovarian cancer prevention? This economic evaluation found that population-based BRCA1, BRCA2, and PALB2 testing among unselected women was cost-effective for the prevention of breast and ovarian cancer and remained cost-effective in extensive 1-way sensitivity analyses. Population-wide genetic testing was 100% cost-effective for all the simulations in probabilistic sensitivity analyses; it became cost-inefficient only when the cost of the test exceeded a certain threshold ($825). The findings support the need for a shift toward more comprehensive genetic testing strategies to identify pathogenic variant carriers and enable informed decision-making for personalized risk management. "


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About Economic Evaluation PHGKB

Economic Evaluation PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that identify, measure, value, and compare the costs and consequences of genomic and other precision health interventions, policies and programs. Economic Evaluation PHGKB is a specialized database of the overall PHGKB.

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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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