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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: May 16, 2024
news News and Publications

Birth Defects and Child Health

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Danya Salah Baz et al. Front Pediatr 2024 121392444

Adolescents' implicit and explicit attitudes toward their peers with genetic conditions.
Tasha Wainstein et al. J Adolesc 2024

Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care.
Paula van Dommelen et al. Orphanet J Rare Dis 2024 19(1) 192

Cancer Genomics

Clinical actionability of BRCA2 alterations in uterine leiomyosarcoma: a molecular tumor board case report and a cBioPortal comprehensive analysis.
Luca Boscolo Bielo et al. Oncologist 2024

Optimizing the Use of Next-Generation Sequencing Assays in Patients With Urothelial Carcinoma: Recommendations by the 2023 San Raffaele Retreat Panel.
Valentina Tateo et al. Clin Genitourin Cancer 2024 22(4) 102091

Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia.
Andrew Seto et al. Cancers (Basel) 2024 16(9)

Chronic Disease

The Role of X Chromosome in Alzheimer's Disease Genetics.
Michael E Belloy et al. medRxiv 2024

Ethical, Legal and Social Issues (ELSI)

A model for supporting biomedical and public health researcher use of publicly available All of Us data at Historically Black Colleges and Universities.
Brian Southwell et al. J Am Med Inform Assoc 2024

General Practice

Healthcare utilization and behavior changes following workplace genetic testing at a large U.S. healthcare system.
Elizabeth Charnysh et al. Genet Med 2024 101160

All of Us Participant Perspectives on the Return of Value in Research.
Jennifer Richmond et al. Genet Med 2024 101163

A systematic review on the appropriate discounting rates for the economic evaluation of gene therapies: whether a specific approach is justified to tackle the challenges?
Tingting Qiu et al. Int J Technol Assess Health Care 2024 40(1) e23

Heart, Lung, Blood and Sleep Diseases

Clinical Practice Patterns in Sickle Cell Disease Treatment: Disease-Modifying and Potentially Curative Therapies.
Luisanna M Sánchez et al. J Pediatr Hematol Oncol 2024

2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Steve R Ommen et al. Circulation 2024

Algorithm for detection and screening of familial hypercholesterolemia in Lithuanian population.
Urte Aliosaitiene et al. Lipids Health Dis 2024 23(1) 136

Clinical Interpretation of Genetic Variants in the Evaluation and Management of Thoracic Aortic Aneurysm and Dissection.
Zaid Abood et al. Am J Med 2024

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy.
Mahati Pidaparti et al. J Clin Med 2024 13(9)

A national postgraduate nurse practitioner and physician assistant fellowship in cystic fibrosis: An innovative approach to the provider shortage in complex and rare disease.
Cynthia J Brady et al. J Am Assoc Nurse Pract 2024

Genome-wide association studies reveal differences in genetic susceptibility between single events vs. recurrent events of atrial fibrillation and myocardial infarction: the HUNT study.
Martina Hall et al. Front Cardiovasc Med 2024 111372107

Hereditary Cancer

Outcomes of a universal germline screening program in a community urology practice.
Neil Mendhiratta et al. Clin Genet 2024

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families from the Lynch Memorial Biobank reveals complex genetic architecture and phenocopies.
Jocelyn N Plowman et al. HGG Adv 2024 100306

Ovarian cancer: identifying and managing familial and genetic risk-summary of new NICE guidance.
Eric Slade et al. BMJ 2024 385q807

Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives.
Michiel Vlaming et al. Fam Cancer 2024

Newborn Screening

Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch et al. Hum Genomics 2024 18(1) 45

Pharmacogenomics

Economic Evaluation of HLA-B*15:02 Genotyping for Asian Australian Patients With Epilepsy.
Yaron Gu et al. JAMA Dermatol 2024

Reproductive Health

New Insights beyond Established Norms: A Scoping Review of Genetic Testing for Infertile Men.
Hamid Kalantari et al. Urol J 2024

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Michal Levy et al. Prenat Diagn 2024

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis and pregnancy outcomes of fetuses with polyhydramnios.
Yanyan Liu et al. J Matern Fetal Neonatal Med 2024 37(1) 2344089

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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