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Health Equity PHGKB

Specific PHGKB|Economic Evaluation PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Apr 11, 2024
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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. "

Cost-Effectiveness of Gene-Specific Prevention Strategies for Ovarian and Breast Cancer.
Xia Wei et al. JAMA Netw Open 2024 2 (2) e2355324 (Posted Feb 11, 2024 10AM)

From the abstract: This economic evaluation using a decision-analytic Markov model with a simulated cohort of women aged 30 years found that undergoing both risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO) was most cost-effective, maximizing cancers prevented for individuals carrying BRCA1 (RRM at age 30 years; RRSO at age 35 years), BRCA2 (RRM at age 35 years; RRSO at age 40 years), and PALB2 (RRM at age 40 years; RRSO at age 45 years) pathogenic variants, while RRSO was cost-effective at age 45 years for women with RAD51C, RAD51D, and BRIP1 pathogenic variants." "

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Tarun Mehra et al. PLoS One 2024 19(4) e0301271
Is Risk-Stratifying Patients with Colorectal Cancer Using a Deep Learning-Based Prognostic Biomarker Cost-Effective? External Web Site Icon
Anna Kenseth et al. Pharmacoeconomics 2024
Effectiveness and Cost-Effectiveness of Colorectal Cancer Screening With a Blood Test That Meets the Centers for Medicare & Medicaid Services Coverage Decision. External Web Site Icon
Rosita van den Puttelaar et al. Gastroenterology 2024
A Review of the Cost-Effectiveness Evidence for FDA-Approved Cell and Gene Therapies. External Web Site Icon
Sumaya Abuloha et al. Hum Gene Ther 2024
Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review. External Web Site Icon
Sook Pin Goh et al. BMC Cancer 2024 24(1) 316
The cost-effectiveness of germline BRCA testing-guided olaparib treatment in metastatic castration resistant prostate cancer. External Web Site Icon
Srinivas Teppala et al. Int J Technol Assess Health Care 2024 40(1) e14
Familial hypercholesterolemia in children and the importance of early treatment. External Web Site Icon
Sibbeliene E van den Bosch et al. Curr Opin Lipidol 2024
Assisting the implementation of screening for type 1 diabetes by using artificial intelligence on publicly available data. External Web Site Icon
Pedro F Teixeira et al. Diabetologia 2024
A UK prospective multicentre decision impact, decision conflict and economic evaluation of the 21-gene assay in women with node+ve, hormone receptor+ve, HER2-ve breast cancer. External Web Site Icon
Simon Holt et al. Br J Cancer 2024
Assessing the utility of measurement methods applied in economic evaluations of pharmacogenomics applications. External Web Site Icon
Vasileios Fragoulakis et al. Pharmacogenomics 2024


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.

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.