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PHGKB Horizon Scan > Genomics Precision Health Scan


Precision Health Database| Genomics Precision Health Scan|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Update Date: Apr 25, 2024
news News and Publications

Birth Defects and Child Health

Stigma associated with genetic testing for rare diseases-causes and recommendations.
Gareth Baynam et al. Front Genet 2024 151335768

Cancer Genomics

Correlation between NGS panel-based mutation results and clinical information in colorectal cancer patients.
Bo Cheng et al. Heliyon 2024 10(7) e29299

Ethical, Legal and Social Issues (ELSI)

Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries.
Riccardo Oliva et al. Int J Gynecol Cancer 2024

Navigating equity in global access to genome therapy expanding access to potentially transformative therapies and benefiting those in need requires global policy changes.
Tsung-Ling Lee et al. Front Genet 2024 151381172

"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.
Cassandra Muller et al. Eur J Hum Genet 2024

Heart, Lung, Blood and Sleep Diseases

Enhanced identification of familial hypercholesterolemia using central laboratory algorithms.
Shirin Ibrahim et al. Atherosclerosis 2024 393117548

Modification of coronary artery disease clinical risk factors by coronary artery disease polygenic risk score.
Buu Truong et al. Med 2024

Translational Research and Health Equity: Gene Therapies for Sickle Cell Disease as a Case Study.
Mary A Majumder et al. Ethics Hum Res 2024 46(3) 34-39

Prevalence of Dysbetalipoproteinemia in the UK Biobank According to Different Diagnostic Criteria.
Martine Paquette et al. J Clin Endocrinol Metab 2024

Hereditary Cancer

Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.
Sara Torres-Esquius et al. JAMA Netw Open 2024 7(4) e247811

Uptake of Risk-Reducing Measures, Cascade Testing, and Related Challenges Among Carriers of Breast Cancer-Associated Germline Pathogenic Variants in Mexico.
Fernanda Mesa-Chavez et al. JCO Glob Oncol 2024 10e2300417

Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants.
Zhenzhen Zhang et al. JAMA Netw Open 2024 7(4) e247421

Assessing the value of incorporating a polygenic risk score with non-genetic factors for predicting breast cancer diagnosis in the UK Biobank.
Jennifer A Collister et al. Cancer Epidemiol Biomarkers Prev 2024

Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention.
Shayan M Dioun et al. Am J Obstet Gynecol 2024

A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants.
Jin Ju Kim et al. Clin Lab 2024 70(4)

Newborn Screening

EXPANDED NEWBORN SCREENING FOR INBORN ERRORS OF IMMUNITY: THE EXPERIENCE OF TUSCANY.
Silvia Ricci et al. J Allergy Clin Immunol Pract 2024

Reproductive Health

Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35.
Jia Huang et al. Front Med (Lausanne) 2024 111376319

Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.
Erica Soster et al. Mol Cytogenet 2024 17(1) 9

About Scan

This scan features emerging roles of genomics interventions across the life span. The scan focuses on various conditions including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The sweep also includes news, reviews, commentaries, tools and database.


Disclaimer: Articles listed in the Public 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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