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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 9, 2024
news News and Publications

Birth Defects and Child Health

Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.
Magriet van Niekerk et al. Eur J Hum Genet 2024

Cancer Genomics

KRAS Allelic Variants in Biliary Tract Cancers.
Gordon Taylor Moffat et al. JAMA Netw Open 2024 7(5) e249840

Trial of Electronic Medical Record Integrated Next-Generation Sequencing Ordering in Veterans Affairs Cancer Care.
James H Stoeckle et al. JCO Precis Oncol 2024 8e2300463

Clinical and genomic landscape of RAS mutations in gynecologic cancers.
Ji Son et al. Clin Cancer Res 2024

Chronic Disease

Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.
Euyn Lim et al. Kidney Int Rep 2024 9(5) 1441-1450

Polygenic Risk Score Reveals Genetic Heterogeneity of Alzheimer's Disease between the Chinese and European Populations.
F Li et al. J Prev Alzheimers Dis 2024 11(3) 701-709

Ethical, Legal and Social Issues (ELSI)

Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues.
Michelle N Meyer et al. Am J Hum Genet 2024 111(5) 833-840

Genetic Research within Indigenous Communities: Engagement Opportunities and Pathways Forward.
Krysta S Barton et al. Genet Med 2024 101158

Advancing genomics to improve health equity.
Ebony B Madden et al. Nat Genet 2024

Heart, Lung, Blood and Sleep Diseases

It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.
Samuel S Gidding et al. Glob Heart 2024 19(1) 43

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Marcin W Wlodarski et al. Lancet Haematol 2024 11(5) e368-e382

Evinacumab and Cardiovascular Outcome in Patients With Homozygous Familial Hypercholesterolemia.
Sophie Béliard et al. Arterioscler Thromb Vasc Biol 2024

Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol.
Karen Birkenhead et al. BMJ Open 2024 14(5) e082699

Cost-Effectiveness of Lovotibeglogene Autotemcel (Lovo-Cel) Gene Therapy for Patients with Sickle Cell Disease and Recurrent Vaso-Occlusive Events in the United States.
William L Herring et al. Pharmacoeconomics 2024

Hereditary Cancer

Cost-effectiveness of genetic testing of endocrine tumor patients using a comprehensive hereditary cancer gene panel.
Attila Patócs et al. J Clin Endocrinol Metab 2024

Walking the tightrope: Fertility preservation among hereditary breast and ovarian Cancer syndrome Previvors.
Sharonne Holtzman et al. Gynecol Oncol 2024 186176-181

Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations.
Woong Ki Park et al. NPJ Precis Oncol 2024 8(1) 96

Newborn Screening

Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Denise M Kay et al. Pediatr Pulmonol 2024

Pharmacogenomics

Pharmacogenomic Clinical Support Tools for the Treatment of Depression.
Matthew L Baum et al. Am J Psychiatry 2024 appiajp20230657

Reproductive Health

Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center.
Monica Faieta et al. Prenat Diagn 2024

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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