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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)
Effective August 1, 2024, this site was discontinued. All content will be preserved online for historical purposes only until 2029.

Update Date: Jun 27, 2024
news News and Publications

Cancer Genomics

Comparative Evaluation of Machine Learning Models for Subtyping Triple-Negative Breast Cancer: A Deep Learning-Based Multi-Omics Data Integration Approach.
Shufang Yang et al. J Cancer 2024 15(12) 3943-3957

Chronic Disease

Effects of genetic risk on incident type 2 diabetes and glycemia: the T2D-GENE lifestyle intervention trial.
Maria Anneli Lankinen et al. J Clin Endocrinol Metab 2024

Ethical, Legal and Social Issues (ELSI)

Weighty Matters: Considering the Ethics of Genetic Risk Scores for Obesity.
Cassie Houtz et al. Genet Med 2024 101196

Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: a scoping review.
Qin Xiang Ng et al. Health Econ Rev 2024 14(1) 42

General Practice

Ethical implications of disparities in translation genomic medicine: from research to practice.
Mehrunisha Suleman et al. J Med Ethics 2024 50(7) 435-436

Heart, Lung, Blood and Sleep Diseases

Sickle cell disease and infertility risks: implications for counseling and care of affected girls and women.
Lydia H Pecker et al. Expert Rev Hematol 2024

A Pharmacist-Managed Hydroxyurea Prescribing Protocol Improves Uptake and Optimization among Patients with Sickle Cell Disease.
Cameron Roessner et al. Adv Hematol 2024 20244753349

Application of implementation science for improving the utilization of an international clinical practice guidance on familial hypercholesterolemia.
Laney K Jones et al. J Clin Lipidol 2024

Advancing familial hypercholesterolaemia (FH) screening in primary care: an updated systematic review of systematic screening methods for identificaton of FH.
Aya Ayoub et al. Br J Gen Pract 2024 74(suppl 1)

The Role of Reverse Cascade Screening in Children with Familial Hypercholesterolemia: A Literature Review and Analysis.
Ryan Lokkesmoe et al. Curr Atheroscler Rep 2024

Familial hypercholesterolemia care by Dutch pediatricians-mind the gaps.
Sibbeliene E van den Bosch et al. Eur J Pediatr 2024

Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis.
Steven A Muller et al. Eur J Heart Fail 2024

Hereditary Cancer

Screening guidelines for people at increased risk for prostate cancer.
Justin Lorentz et al. Can Urol Assoc J 2024

Healthcare Professionals' Learning Needs and Perspectives on Essential Information in Genetic Cancer Care: A Systematic Review.
Sun-Young Park et al. Cancers (Basel) 2024 16(11)

Risk-reducing salpingo-oophorectomy among diverse patients with BRCA mutations at an urban public hospital: a mixed methods study.
Alexandra J Lamacki et al. BMJ Open 2024 14(6) e082608

Hereditary Cancer Clinics Improve Adherence to NCCN Germline Testing Guidelines for Pancreatic Cancer.
Claudia Rosso et al. J Natl Compr Canc Netw 2024 1-7

Effectiveness of colorectal cancer screening integrating non-genetic and genetic risk: a prospective study based on UK Biobank data.
Yu Zhang et al. Cancer Biol Med 2024

Cancer predisposing syndromes in childhood and adolescence pose several challenges necessitating interdisciplinary care in dedicated programs.
Stefanie Kaffai et al. Front Pediatr 2024 121410061

Cost-effectiveness of talazoparib for patients with germline BRCA1/2 mutated HER2-negative advanced breast cancer in China and the US.
Junjie Pan et al. Sci Rep 2024 14(1) 13935

Newborn Screening

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.
Emma L Baple et al. Nat Med 2024

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.
BalaSubramani Gattu Linga et al. Cancers (Basel) 2024 16(11)

Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study.
Molly Parfett et al. Eur J Hum Genet 2024

Pharmacogenomics

Molecular identification of HLA-B75 serotype markers by qPCR: A more inclusive pharmacogenetic approach before carbamazepine prescription.
Kanoot Jaruthamsophon et al. Clin Transl Sci 2024 17(6) e13867

Pharmacogenetic testing in primary care could bolster depression treatment: A value proposition.
Nina R Sperber et al. Clin Transl Sci 2024 17(6) e13837

Reproductive Health

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Michelle Peter et al. Front Genet 2024 151401705

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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