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Precision Health Database| Genomics Precision Health Scan|PHGKB
Publication Date: Dec 7, 2023
news News and Publications

Birth Defects and Child Health

Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications.
Eugenio Mercuri et al. Front Pediatr 2023 111276144

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Emanuele Monda et al. Circ Genom Precis Med 2023 e004252

Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.
Chunhua Weng et al. Res Sq 2023

The implementation and utility of clinical exome sequencing in a South African infant cohort.
L Campbell et al. Front Genet 2023 141277948

Whole-Exome Sequencing Among School-Aged Children With High Myopia.
Xiangyi Yu et al. JAMA Netw Open 2023 6(12) e2345821

Cancer Genomics

Evaluation of the effectiveness of a nationwide precision medicine program for patients with advanced non-small cell lung cancer in Germany: a historical cohort analysis.
Anika Kästner et al. Lancet Reg Health Eur 2023 36100788

Molecular landscape of ERBB2/HER2 gene amplification among patients with gynecologic malignancies; clinical implications and future directions.
Dimitrios Nasioudis et al. Gynecol Oncol 2023 1801-5

The Prognosis of Advanced Non-Small Cell Lung Cancer Patients with Precision-Targeted Therapy Guided by NGS Testing or Routine Testing.
Tingting Tu et al. Cancer Manag Res 2023 151307-1318

Serial circulating-tumor DNA analysis with a tumor naïve next-generation sequencing panel detects minimal residual disease and predicts outcome in ovarian cancer.
Jinho Heo et al. Cancer Res 2023

Ethical, Legal and Social Issues (ELSI)

Looking ahead: ethical and social challenges of somatic gene therapy for sickle cell disease in Africa.
Nchangwi Syntia Munung et al. Gene Ther 2023

An Ethical and Financial Obligation for Sickle Cell Disease Gene Therapy in the United States.
Austin Wesevich et al. Ann Intern Med 2023

General Practice

Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting.
Alison Schildt et al. Am J Med Genet A 2023

Integrating participants as partners in research governance and operations: an approach from the All of Us Research Program Engagement Core.
Catherine Hammack-Aviran et al. BMJ Open 2023 13(11) e068100

Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.
Nephi A Walton et al. J Am Med Inform Assoc 2023

Heart, Lung, Blood and Sleep Diseases

Increased FH-Risk-Score and Diabetes Are Cardiovascular Risk Equivalents in Heterozygous Familial Hypercholesterolemia.
Martine Paquette et al. Arterioscler Thromb Vasc Biol 2023

Genome editing for sickle cell disease: still time to correct?
Giulia Ceglie et al. Front Pediatr 2023 111249275

Cascade testing of children and adolescents for elevated Lp(a) in pedigrees with familial Hypercholesterolaemia.
Wann Jia Loh et al. J Clin Lipidol 2023

Exploring the training needs of inherited cardiac conditions (ICC) nurses: Elucidating role boundaries and competencies for practice in the genomics era.
Amy Braddel et al. J Genet Couns 2023

Hereditary Cancer

Unawareness of breast cancer family history among African women.
Babatunde Adedokun et al. Pan Afr Med J 2023 45188

Evaluating implementation of NCCN guideline-directed genetic screening recommendations for patients with pancreatic ductal adenocarcinoma.
Aditya K Ghosh et al. Cancer Causes Control 2023


A systematic review of knowledge, attitude and practice of pharmacogenomics in pediatric oncology patients.
Claire Moore et al. Pharmacol Res Perspect 2023 11(6) e01150

Impact of CYP2C19 Genotype on Efficacy and Safety of Clopidogrel-based Antiplatelet Therapy in Stroke or Transient Ischemic Attack Patients: An Updated Systematic Review and Meta-analysis of Non-East Asian Studies.
Sarah Cargnin et al. Cardiovasc Drugs Ther 2023

Feasibility of preemptive pharmacogenetic testing and improvement of medication treatment satisfaction among medically underserved patients.
Christelle Lteif et al. Clin Transl Sci 2023

Reproductive Health

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods.
Irina Ioana Iordanescu et al. Front Genet 2023 141258752

Non-invasive prenatal testing: a revolutionary journey in prenatal testing.
Malak Abedalthagafi et al. Front Med (Lausanne) 2023 101265090

Prenatal aneuploidy screening and its impact on stillbirth etiology evaluation.
Gianna L Wilkie et al. Minerva Obstet Gynecol 2023

About Scan

This scan features emerging roles of genomics interventions across the life span. The weekly scan focus on various conditions including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly 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.