Archive
Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
(Posted: Sep 23, 2024 8AM)
Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
(Posted: Jul 15, 2024 9AM)
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)
Improving Noninvasive Colorectal Cancer Screening.
John M Carethers et al. N Engl J Med 2024 3 (11) 1045-1046
(Posted: Mar 14, 2024 10AM)
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)
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)
Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review.
Clara Marquina et al. Pharmacoeconomics 2024 1
(Posted: Jan 30, 2024 10AM)
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
Mario Cesare Nurchis et al. JAMA Netw Open 2024 1 (1) e2353514
(Posted: Jan 30, 2024 8AM)
Cost Effectiveness of Genomic Population Health Screening in Adults: A Review of Modeling Studies and Future Directions.
Robert S Wildin et al. J Appl Lab Med 2024 1 (1) 92-103
(Posted: Jan 09, 2024 9AM)
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: evidence from Canada
DA Regier et al, Genetics in Medicine, January 8, 2024
(Posted: Jan 08, 2024 8AM)
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.
Nadeem Qureshi et al. Health Technol Assess 2023 11 (16) 1-140
(Posted: Nov 07, 2023 0PM)
Long-term cost-effectiveness of a melanoma prevention program using genomic risk information compared with standard prevention advice in Australia
CK Law et al, Genetics in Medicine, August 30, 2023
(Posted: Aug 31, 2023 7AM)
Cost effectiveness review of text messaging, smartphone application, and website interventions targeting T2DM or hypertension.
Ruben Willems et al. NPJ Digit Med 2023 8 (1) 150
(Posted: Aug 21, 2023 8AM)
AI-based skin cancer detection: the balance between access and overutilization
KP Venkatesh et al, NPJ Digital Medicine, August 15, 2023
(Posted: Aug 15, 2023 0PM)
Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis
A Busnelli et al, Genet Med, July 2023
(Posted: Jul 24, 2023 11AM)
The English National Lynch Syndrome Transformation Project
Brit Soc Gastro, July 14, 2023
(Posted: Jul 16, 2023 9AM)
The Promise of Population-based Genomic Screening for Selected Hereditary Conditions: Contributions of Cost-Effectiveness Analysis
ND Rao et al, CDC Blog Post, July 14, 2023
(Posted: Jul 14, 2023 1PM)
Cost-Effectiveness Analysis of Personalized Hypertension Prevention
ST Wang, J Per Med, June 15, 2023
(Posted: Jun 16, 2023 1PM)
Cost-Effectiveness Analysis in Public Health Genomics and Precision Health: Recent Findings, Methodologic Issues, and the Path Forward
CDC Public Health Genomics Webinar, October 26, 2023
(Posted: Jun 09, 2023 8AM)
Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.
Gregory F Guzauskas et al. Ann Intern Med 2023 5
(Posted: May 09, 2023 5AM)
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
(Posted: May 08, 2023 4PM)
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
(Posted: May 02, 2023 8AM)
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)
(Posted: Feb 17, 2023 9AM)
Prioritizing the detection of rare pathogenic variants in population screening.
Lacaze Paul et al. Nature reviews. Genetics 2023 1
(Posted: Jan 15, 2023 3PM)
Editorial: Digitalization for precision healthcare
F Cascini et al, Front Public Health, December 2022
(Posted: Dec 21, 2022 8AM)
Cost-effectiveness of a gene sequencing test for Alzheimer's disease in Ontario.
Iragorri Nicolas et al. Journal of community genetics 2022 11
(Posted: Nov 28, 2022 11AM)
Integrating genome-wide polygenic risk scores and non-genetic risk to predict colorectal cancer diagnosis using UK Biobank data: population based cohort study
SEW Briggs et al, BMJ, November 2022
(Posted: Nov 14, 2022 7AM)
Artificial intelligence for strengthening healthcare systems in low- and middle-income countries: a systematic scoping review.
Ciecierski-Holmes Tadeusz et al. NPJ digital medicine 2022 10 (1) 162
(Posted: Oct 29, 2022 11AM)
Resource allocation in genetic and genomic medicine
J Buchanan et al, J Community Genetics, September 24, 2022
(Posted: Sep 26, 2022 7AM)
Correspondence on “Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions”
SD Grosse et al, Genetics in Medicine, September 21, 2022
(Posted: Sep 22, 2022 6AM)
The cost-effectiveness of digital health interventions: A systematic review of the literature
A Gentili et al, Front Public Health, August 2022
(Posted: Aug 11, 2022 7AM)
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
STF Shih et al, IJNS, July 20, 2022
(Posted: Jul 21, 2022 7AM)
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.
Ferket Bart S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 7
(Posted: Jul 15, 2022 5AM)
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning
HB Smart et al, EJHG, July 13, 2022
(Posted: Jul 13, 2022 7AM)
Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward
V Rahimzadeh et al, Frontiers in Genetics, May 2022
(Posted: May 31, 2022 8AM)
Paying for artificial intelligence in medicine
RB Parikh et al, NPJ Digital Medicine, May 20, 2022
(Posted: May 20, 2022 8AM)
Assessing the impacts of timing on the health benefits, cost-effectiveness and relative affordability of COVID-19 vaccination programmes in 27 African Countries
Y Liu et al, MEDRXIV, May 10, 2022
(Posted: May 11, 2022 7AM)
Sustainability of surveillance systems for SARS-CoV-2
C Adhlhoch et al, Lancet Infectious Diseases, April 22, 2022
(Posted: Apr 24, 2022 7AM)
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States
V Diaby et al, The PGX Journal, April 18, 2022
(Posted: Apr 18, 2022 9AM)
Implementation of pharmacogenomic clinical decision support for health systems: a cost-utility analysis
S Jiang et al, The PGX journal, April 1, 2022
(Posted: Apr 02, 2022 8AM)
A systematic review on the cost effectiveness of pharmacogenomics in developing countries: implementation challenges
A Sukri et al, The PGX Journal, March 22, 2022
(Posted: Mar 25, 2022 7AM)
Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.
Guzauskas Gregory F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
(Posted: Mar 05, 2022 7AM)
Modeling comparative cost-effectiveness of SARS-CoV-2 vaccine dose fractionation in India
Z Du et al, Nature Medicine, February 24, 2022
(Posted: Feb 24, 2022 8AM)
Index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes
M Abedalthagafi, EJHG, January 22, 2022
(Posted: Jan 24, 2022 2PM)
Cost-effectiveness analysis of BNT162b2 COVID-19 booster vaccination in the United States
R Li et al, MEDRXIV, November 14, 2021
(Posted: Nov 15, 2021 6AM)
Rapid genomic testing for critically ill children: time to become standard of care?
Z Stark et al, EJHG, November 8, 2021
(Posted: Nov 08, 2021 7AM)
Beyond performance metrics: modeling outcomes and cost for clinical machine learning
JA Diao et al, NPJ Digital Medicine, August 10, 2021
(Posted: Aug 10, 2021 3PM)
Polygenic Risk Scores for Breast Cancer—Can They Deliver on the Promise of Precision Medicine?
PD Shah, JAMA Network Open, August 4, 2021
(Posted: Aug 04, 2021 0PM)
Genetic-guided pharmacotherapy for venous thromboembolism: a systematic and critical review of economic evaluations
KK Lim et al, Pharmacogenomics Journal, June 15, 2021
(Posted: Jun 16, 2021 8AM)
New publications in health economics and genomics 8th June 2021
J Buchanan, Health Economics and Genomics, June 2021
(Posted: Jun 09, 2021 7AM)
Health information technology interventions and engagement in HIV care and achievement of viral suppression in publicly funded settings in the US: A cost-effectiveness analysis.
Shade Starley B et al. PLoS medicine 2021 4 (4) e1003389
(Posted: Apr 12, 2021 8AM)
Pharmacogenetic-guided glimepiride therapy in type-2 diabetes mellitus: a cost-effectiveness study
C Fokoun et al, PGX Journal, March 17, 2021
(Posted: Mar 19, 2021 8AM)
Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.
Boyarchuk Oksana et al. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021 49(289) 80-83
(Posted: Mar 16, 2021 10AM)
Comparative cost-effectiveness of SARS-CoV-2 testing strategies in the USA: a modelling study
Z Du et al, Lancet Public Health, February 4, 2021
(Posted: Feb 06, 2021 7AM)
A New State-Space Epidemiological Model for Cost-Effectiveness Analysis of Non-Medical Interventions- A Study on COVID-19 in California and Florida
V Deo et al, MEDRXIV, December 26, 2020
(Posted: Dec 27, 2020 11AM)
Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States
GF Gusauskas et al, JAMA Network Open, October 29, 2020
(Posted: Oct 29, 2020 11AM)
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies.
Li Chunmei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
(Posted: Oct 29, 2020 11AM)
A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none?
Y Zhu et al, Genetics in Medicine, October 12, 2020
(Posted: Oct 12, 2020 0PM)
Cost-effectiveness Analysis of Genetic Testing and Tailored First-Line Therapy for Patients With Metastatic Gastrointestinal Stromal Tumors
S Banerjee et al, JAMA Network Open, September 28, 2020
(Posted: Sep 28, 2020 1PM)
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
A Yeung et al, Genetics in Medicine, August 10, 2020
(Posted: Aug 10, 2020 9AM)
Economic value of exome sequencing for suspected monogenic disorders
BS Ferket et al, Genetics in Medicine, June 30, 2020
(Posted: Jul 01, 2020 8AM)
A pragmatic randomized waitlist-controlled effectiveness and cost-effectiveness trial of digital interventions for depression and anxiety
D Richards et al, NPJ Digital Medicine, June 15, 2020
(Posted: Jun 16, 2020 9AM)
Digital Health Equity as a Necessity in the 21st Century Cures Act Era
JA Rodriguez et al, JAMA, May 28, 2020
(Posted: May 28, 2020 0PM)
Cost-effectiveness Evaluation of Targeted Surgical and Endoscopic Therapies for Early Colorectal Adenocarcinoma Based on Biomarker Profiles
SR Jang et al. JAMA Network Open, March 9, 2020
(Posted: Mar 10, 2020 8AM)
Assessment of Treatment Cost-effectiveness Using a Colorectal Cancer Mutation Profile
TJ Yeatman et al, JAMA Netwotk Open, March 9, 2020
(Posted: Mar 10, 2020 8AM)
Selecting the optimal risk threshold of diabetes risk scores to identify high-risk individuals for diabetes prevention: a cost-effectiveness analysis.
Mühlenbruch Kristin et al. Acta diabetologica 2019 Nov
(Posted: Feb 26, 2020 9AM)
Testing for Breast Cancer Susceptibility Genes
JAMA Learning Podcast, February 2020
(Posted: Feb 12, 2020 8AM)
APOL1 Genotyping in Potential African American Living Kidney Donors: Utility and Cost-Effectiveness.
Gudsoorkar Prakash et al. American journal of nephrology 2020 Jan 1-3
(Posted: Jan 22, 2020 9AM)
Cost-effectiveness of targeted screening for the identification of patients with atrial fibrillation: Evaluation of a machine learning risk prediction algorithm.
Hill Nathan R et al. Journal of medical economics 2019 Dec 1
(Posted: Jan 02, 2020 9AM)
Polygenic risk-tailored screening for prostate cancer: A benefit-harm and cost-effectiveness modelling study.
Callender Tom et al. PLoS medicine 2019 Dec (12) e1002998
(Posted: Dec 21, 2019 4PM)
Cost-effectiveness of Active Identification and Subsequent Colonoscopy Surveillance of Lynch Syndrome Cases.
Peterse Elisabeth F P et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Oct
(Posted: Oct 23, 2019 9AM)
Cost-effectiveness of risk-stratified colorectal cancer screening based on polygenic risk – current status and future potential
SK Naber et al, JNCI SPectrum, October 17, 2019
(Posted: Oct 18, 2019 8AM)
The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome.
Kang Yoon-Jung et al. The Medical journal of Australia 2019 Oct
(Posted: Oct 16, 2019 9AM)
Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases
Ye Zhu, et al. Genetics in Medicine, October 8, 2019
(Posted: Oct 10, 2019 8AM)
A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer
L Sun et al, JAMA Oncology, October 3, 2019
(Posted: Oct 04, 2019 9AM)
Cost-effectiveness of population genomic screening.
Veenstra David L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul
(Posted: Jul 17, 2019 8AM)
Generic Cost-Effectiveness Models: A Proof of Concept of a Tool for Informed Decision-Making for Public Health Precision Medicine.
Snyder Susan R et al. Public health genomics 2019 Jun 1-11
(Posted: Jun 16, 2019 8AM)
Cost-effectiveness of newborn screening for severe combined immunodeficiency.
Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729
(Posted: May 01, 2019 8AM)
Clinical and Cost Effectiveness of Two New Lynch Syndrome Case Finding Protocols in Endometrial Cancer Population Contrasted with the IHC-based Protocol
JM Gudgeon et al, BioRXIV, April 18, 2019
(Posted: Apr 21, 2019 6PM)
Should women with a BRCA1/2 mutation aged 60 and older be offered intensified breast cancer screening? - A cost-effectiveness analysis.
Phi Xuan-Anh et al. Breast (Edinburgh, Scotland) 2019 Mar 4582-88
(Posted: Mar 27, 2019 9AM)
Preventive Genomic Screening of Young Adults Could be Cost-Effective, Australian Research Suggests
Genomeweb, February 20, 2019
(Posted: Feb 21, 2019 9AM)
Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
Zhang Lei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb
(Posted: Feb 20, 2019 11AM)
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
KA Beauchamp et al, Genetics in Medicine, February 14,, 2019
(Posted: Feb 14, 2019 10AM)
An economic model of the cost-utility of pre-emptive genetic testing to support pharmacotherapy in patients with major depression in primary care.
Sluiter Reinier L et al. The pharmacogenomics journal 2019 Jan
(Posted: Jan 23, 2019 1PM)
Cost Effectiveness of the Oncotype DX Genomic Prostate Score for Guiding Treatment Decisions in Patients With Early Stage Prostate Cancer.
Chang Eric M et al. Urology 2018 Dec
(Posted: Jan 02, 2019 4PM)
Cost-Effective But Unaffordable: The CAR-T Conundrum.
Leech Ashley A et al. Journal of the National Cancer Institute 2018 Dec
(Posted: Dec 30, 2018 9AM)
Cost-Effectiveness of Chimeric Antigen Receptor T-Cell Therapy in Pediatric Relapsed/Refractory B-Cell Acute Lymphoblastic Leukemia.
Sarkar Reith R et al. Journal of the National Cancer Institute 2018 Dec
(Posted: Dec 30, 2018 9AM)
Cost-Effectiveness of a Pharmacogenetic Test to Guide Treatment for Major Depressive Disorder.
Groessl Erik J et al. Journal of managed care & specialty pharmacy 2018 Aug 24(8) 726-734
(Posted: Nov 07, 2018 11AM)
Cost-Effectiveness and Budget Impact of Lumacaftor/Ivacaftor in the Treatment of Cystic Fibrosis.
Vadagam Pratyusha et al. Journal of managed care & specialty pharmacy 2018 Oct 24(10) 987-997
(Posted: Sep 26, 2018 10AM)
Using "Big Data" in the Cost-Effectiveness Analysis of Next-Generation Sequencing Technologies: Challenges and Potential Solutions.
Wordsworth Sarah et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2018 21(9) 1048-1053
(Posted: Sep 19, 2018 9AM)
Gene therapy in hemophilia A: a cost-effectiveness analysis.
Machin Nicoletta et al. Blood advances 2018 Jul 2(14) 1792-1798
(Posted: Aug 01, 2018 10AM)
Clinical Impact and Cost-Effectiveness of a 176-Condition Expanded Carrier Screen
KA Beachamp et al, BioRXIV, July 2018
(Posted: Jul 24, 2018 1PM)
Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer
A Life-Table Model
N Pashayan et al, JAMA Oncology, Juy 5, 2018
(Posted: Jul 05, 2018 11AM)
QALYs in 2018Advantages and Concerns
PJ Neumann et al, JAMA May 2018
(Posted: May 28, 2018 10AM)
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Howell Katherine B et al. Epilepsia 2018 May
(Posted: May 17, 2018 1PM)
BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer.
Norum Jan et al. ESMO open 2018 3(3) e000328
(Posted: Apr 25, 2018 9AM)
The role of cost-effectiveness analysis in precision medicine and public health genomics.
S Grosse, CDC slide presentation, Mar 2018
(Posted: Apr 20, 2018 10AM)
Cardiovascular Genetic Risk Testing for Targeting Statin Therapy in the Primary Prevention of Atherosclerotic Cardiovascular Disease: A Cost-Effectiveness Analysis.
Jarmul Jamie et al. Circulation. Cardiovascular quality and outcomes 2018 Apr 11(4) e004171
(Posted: Apr 18, 2018 10AM)
Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder.
Yuen Tracy et al. Applied health economics and health policy 2018 Apr
(Posted: Apr 18, 2018 10AM)
Cost-Effectiveness Analyses of the 21-Gene Assay in Breast Cancer: Systematic Review and Critical Appraisal.
Wang Shi-Yi et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Apr JCO2017765941
(Posted: Apr 18, 2018 10AM)
Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.
- Page last reviewed:Feb 1, 2024
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