News and Publications
Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.
Benjamin M Helm et al. Genes (Basel) 2024 15(4)
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Annelieke R Müller et al. Ther Adv Rare Dis 2024 526330040241245721
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.
Kirsten A Riggan et al. BMC Pediatr 2024 24(1) 263
Real-world utilization, patient characteristics, and treatment patterns among men with localized prostate cancer tested with the 17-gene genomic prostate score® (GPS) assay.
Amy M Nguyen et al. Prostate 2024
Profiling the molecular and clinical landscape of glioblastoma utilizing the Oncology Research Information Exchange Network brain cancer database.
Alexandra N Demetriou et al. Neurooncol Adv 2024 6(1) vdae046
Enhancing clinical decision support with genomic tools in breast cancer: A Scottish perspective.
A L Peters et al. Breast 2024 75103728
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study.
Ravi Mandla et al. Genome Med 2024 16(1) 63
Danish Diabetes Birth Registry 2: a study protocol of a national prospective cohort study to monitor outcomes of pregnancies of women with pre-existing diabetes.
Sine Knorr et al. BMJ Open 2024 14(4) e082237
Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country.
Williams O Balogun et al. Popul Med 2024 6
Information Provision Regarding Health-Related Direct-to-Consumer Genetic Testing for Dutch Consumers: An in-Depth Content Analysis of Sellers' Websites.
Danny Bruins et al. Genes (Basel) 2024 15(4)
Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden.
Rebecka Pestoff et al. J Genet Couns 2024
Genetic Modifiers of Sickle Cell Anemia Phenotype in a Cohort of Angolan Children.
Catarina Ginete et al. Genes (Basel) 2024 15(4)
Carpal Tunnel Syndrome and Transthyretin Amyloidosis in the All of Us Research Program.
Naman S Shetty et al. Mayo Clin Proc 2024
An evaluation of the cost-effectiveness of population genetic screening for familial hypercholesterolemia in US patients.
Lauren E Hendy et al. Atherosclerosis 2024 393117541
No Racial Disparities Observed Using Point-of-Care Genetic Counseling and Testing for Endometrial and Ovarian Cancer in a Diverse Patient Population: A Retrospective Cohort Study.
Michael Kim et al. Cancers (Basel) 2024 16(8)
National Experiences from 30 Years of Provider-Mediated Cascade Testing in Lynch Syndrome Families-The Danish Model.
Lars Joachim Lindberg et al. Cancers (Basel) 2024 16(8)
Role of Breast Cancer Risk Estimation Models to Identify Women Eligible for Genetic Testing and Risk-Reducing Surgery.
Azzurra Irelli et al. Biomedicines 2024 12(4)
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review.
Agani Afaya et al. Fam Cancer 2024
Endometrioid Endometrial RNA Index Predicts Recurrence in Stage I Patients.
Corrine A Nief et al. Clin Cancer Res 2024
Women's Knowledge of Genomic Testing and Precision Medicine in Breast Cancer Treatment Decision-Making.
Evelyn Robles-Rodriguez et al. Oncol Nurs Forum 2024 51(3) 199-208
Unusual cystic sebaceous neoplasm prompts cascade testing.
Ryan A Hotchkiss et al. JAAD Case Rep 2024 4764-67
ChatGPT accurately performs genetic counseling for gynecologic cancers.
Jharna M Patel et al. Gynecol Oncol 2024 183115-119
Eating Behaviors and Physical Activity versus the Big Five Personality Traits in Women with a Hereditary Predisposition to Breast or Ovarian Cancer.
Beata Pieta et al. Nutrients 2024 16(8)
CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.
Giovanni Corso et al. JAMA Netw Open 2024 7(4) e247862
Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions.
Edie Bowen et al. J Genet Couns 2024
Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.
Esl Pedersen et al. J Cyst Fibros 2024
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Mei Lietsch et al. Int J Neonatal Screen 2024 10(2)
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.
Wendy K Chung et al. Int J Neonatal Screen 2024 10(2)
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.
Oindrila Bhattacharyya et al. Int J Neonatal Screen 2024 10(2)
International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.
Corinna C A Clark et al. Int J Neonatal Screen 2024 10(2)
Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress.
Leire Solis et al. Int J Neonatal Screen 2024 10(2)
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows.
Katherine Raboin et al. Int J Neonatal Screen 2024 10(2)
Do future healthcare professionals advocate for pharmacogenomics? A study on medical and health sciences undergraduate students.
Hanan Al-Suhail et al. Front Pharmacol 2024 151377420
Clinician perspectives regarding CYP2C19 genotype testing in patients with critical limb ischemia: A Delphi approach.
Christopher Regan et al. Vascular 2024 17085381241246318
Recommendations for pharmacogenetic testing in clinical practice guidelines in the US.
Daniel L Hertz et al. Am J Health Syst Pharm 2024
Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.
Miruna Gug et al. J Pers Med 2024 14(4)
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.
Katia Margiotti et al. Curr Issues Mol Biol 2024 46(4) 3209-3217
Understanding the Awareness of Prenatal Genetic Screening Tests Among Pregnant Women in India: A Cross-Sectional Study.
Sangeetha Arumugam et al. Cureus 2024 16(3) e56932
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.
Anett Illés et al. BMC Med Genomics 2024 17(1) 98
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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.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 03, 2024
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