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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 30, 2024
news News and Publications

Birth Defects and Child Health

Medicaid spending and utilization of gene and RNA therapies for rare inherited conditions.
Ilina C Odouard et al. Health Aff Sch 2024 2(5) qxae051

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.
Oliver Heath et al. J Pers Med 2024 14(5)

Evaluating the Inheritance Risk: Epilepsy Prevalence among Offspring of Adults with Epilepsy in a Tertiary Referral Epilepsy Center.
Tassanai Intravooth et al. J Clin Med 2024 13(10)

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
Stephanie Best et al. Eur J Hum Genet 2024

Attitudes of autistic adults toward genetic testing for autism.
Tielle Gallion et al. J Genet Couns 2024

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Alistair T Pagnamenta et al. Am J Hum Genet 2024

Cancer Genomics

Diagnostic accuracy of Afirma Gene Expression Classifier, Afirma Gene Sequencing Classifier, ThyroSeq v2 and ThyroSeq v3 for indeterminate (Bethesda III and IV) thyroid nodules: a meta-analysis.
Irfan Vardarli et al. Endocr Connect 2024

Association Between Ki-67 Proliferative Index and Oncotype-Dx Recurrence Score in Hormone Receptor-Positive, HER2-Negative Early Breast Cancers. A Systematic Review of the Literature.
Mehwish Mooghal et al. Breast Cancer (Auckl) 2024 1811782234241255211

Chronic Disease

Outdoor walking, genetic predisposition, and the risk of incident osteoporosis among older adults: A prospective large population-based cohort study.
Yu-Shan Yue et al. Osteoporos Int 2024

Association of LIfestyle for BRAin health risk score (LIBRA) and genetic susceptibility with incident dementia and cognitive decline.
Jeanne Neuffer et al. Alzheimers Dement 2024

Ethical, Legal and Social Issues (ELSI)

Transfer of embryos with positive PGT-M results: Genetic Counselors' perspectives and ethical considerations.
Silvia Gunderson et al. J Genet Couns 2024

General Practice

Update to the essential genomic nursing competencies and outcome indicators.
Kathleen A Calzone et al. J Nurs Scholarsh 2024

Implementation of a High-Accuracy Targeted Gene Expression Panel for Clinical Care.
Aileen Y Alontaga et al. J Mol Diagn 2024

Heart, Lung, Blood and Sleep Diseases

A Mixed-Methods Evaluation of a Project ECHO Program for the Evidence-Based Management of Sickle Cell Disease.
Cami Mosley et al. Int J Environ Res Public Health 2024 21(5)

Current and Future Therapeutics for Treating Patients with Sickle Cell Disease.
Mariam Barak et al. Cells 2024 13(10)

[Cardiomyopathies: a practical approach to the assessment and management of patients and their families].
Roxana Hiestand et al. Ther Umsch 2024 81(2) 60-66

Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia.
Mark Trinder et al. Arterioscler Thromb Vasc Biol 2024

Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.
Katsuya Nakamura et al. Amyloid 2024 1-5

Hereditary Cancer

Cost-effectiveness of the McGill interactive pediatric oncogenetic guidelines in identifying Li-Fraumeni syndrome in female patients with osteosarcoma.
Juan David Rios et al. Pediatr Blood Cancer 2024 e31077

Progression of nodular thyroid disease in Familial Adenomatous Polyposis syndrome: refined surveillance recommendations.
Gustavo Romero-Velez et al. Endocr Pract 2024

How hereditary cancer risk disclosure to relatives is handled in practice - Patient perspectives from a Swedish cancer genetics clinic.
Carolina Hawranek et al. Patient Educ Couns 2024 126108319

Utilization of A Third-Party Partnership in Tele-genetic Risk Assessment Program in Genitourinary Oncology.
Lin Lin et al. Urology 2024

Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer.
Louise Wang et al. Fam Cancer 2024

Current practices and challenges in genetic testing and counseling for women with breast and ovarian cancer in Asia.
Ava Kwong et al. Asia Pac J Clin Oncol 2024

Newborn Screening

Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Irina Yu Efimova et al. Pediatr Neurol 2024 156147-154


Pharmacogenomic insights in psychiatric care: uncovering novel actionability, allele-specific CYP2D6 copy number variation, and phenoconversion in 15,000 patients.
Jai N Patel et al. Mol Psychiatry 2024

Reproductive Health

Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Sanne P Smeekens et al. Prenat Diagn 2024

Diagnostic accuracy of cell-free DNA in maternal blood in detecting chromosomal anomalies in twin pregnancies: systematic review and meta-analysis.
L Della Valle et al. Ultrasound Obstet Gynecol 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.