Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content
Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Feb 29, 2024
spot light Spotlight

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Kristen M Wigby et al. NPJ Genom Med 2024 2 (1) 15 (Posted Feb 29, 2024 8AM)

From the abstract: "Seventy-one studies met inclusion criteria, comprising over 13,000 patients who received GS in one of the following settings: hospitalized pediatric patients, pediatric outpatients, adult outpatients, or mixed. GS was the first-line test in 38% (27/71). The unweighted mean DY of first-line GS was 45% (12–73%), 33% (6–86%) in cohorts with prior genetic testing, and 33% (9–60%) in exome-negative cohorts. Clinical utility was reported in 81% of first-line GS studies in hospitalized pediatric patients. "

National Rapid Genome Sequencing in Neonatal Intensive Care.
Daphna Marom et al. JAMA Netw Open 2024 2 (2) e240146 (Posted Feb 27, 2024 9AM)

From the abstract: "Can rapid trio genome sequencing (rtGS) be deployed in a national public health care setting? In this cohort study that included all neonatal intensive care units in Israel, rtGS in 130 neonates suspected of having a genetic disorder revealed a diagnosis in 50% (12 chromosomal and 52 monogenic disorders and 1 uniparental disomy). Immediate precision medicine was offered for 9% of diagnosed participants, and the mean turnaround time for rapid report was 7 days. These findings suggest that clinical rtGS can be implemented in the neonatal acute care setting in a national public health care system. "

Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.
Fangjian Guo et al. JAMA Netw Open 2024 2 (2) e2356078 (Posted Feb 15, 2024 9AM)

From the abstract: "Is a population-wide genetic testing strategy more cost-effective than the current family history–based testing strategy for breast and ovarian cancer prevention? This economic evaluation found that population-based BRCA1, BRCA2, and PALB2 testing among unselected women was cost-effective for the prevention of breast and ovarian cancer and remained cost-effective in extensive 1-way sensitivity analyses. Population-wide genetic testing was 100% cost-effective for all the simulations in probabilistic sensitivity analyses; it became cost-inefficient only when the cost of the test exceeded a certain threshold ($825). The findings support the need for a shift toward more comprehensive genetic testing strategies to identify pathogenic variant carriers and enable informed decision-making for personalized risk management. "

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants – an Asian study of 572 families
WK Ho et al, Lancet Regional Health, February 2024 (Posted Feb 06, 2024 1PM)

From the abstract: " Clinical management of Asian BRCA1 and BRCA2 pathogenic variants (PV) carriers remains challenging due to imprecise age-specific breast (BC) and ovarian cancer (OC) risks estimates. We aimed to refine these estimates using six multi-ethnic studies in Asia. We found that the absolute age-specific cancer risks of Asian carriers vary depending on the underlying population-specific cancer incidences, and hence should be customised to allow for more accurate cancer risk management."

news Latest News and Publications
Automated identification of abnormal infant movements from smart phone videos. External Web Site Icon
E Passmore et al. PLOS Digit Health 2024 3(2) e0000432
Deep learning performance on MRI prostate gland segmentation: evaluation of two commercially available algorithms compared with an expert radiologist. External Web Site Icon
Erik Thimansson et al. J Med Imaging (Bellingham) 2024 11(1) 015002
Prediction of pregnancy-related complications in women undergoing assisted reproduction, using machine learning methods. External Web Site Icon
Chen Wang et al. Fertil Steril 2024
UroPredict: Machine learning model on real-world data for prediction of kidney cancer recurrence (UroCCR-120). External Web Site Icon
Gaëlle Margue et al. NPJ Precis Oncol 2024 8(1) 45
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis. External Web Site Icon
Judith Villeneuve et al. Am J Respir Cell Mol Biol 2024
Diagnostic Accuracy of Creatine Kinase Isoenzyme-MM Test in Newborn Screening for Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis. External Web Site Icon
Liang Tang et al. Pediatr Neurol 2024 15384-91
Understanding what drives genetic study participation: Perspectives of patients, carers, and relatives. External Web Site Icon
Emilia M Swietlik et al. Pulm Circ 2024 14(1) e12346
Blood transcriptome analysis uncovered COVID-19-myocarditis crosstalk. External Web Site Icon
Liang Shuang, et al. Microbial pathogenesis 2024 0 0. 106587
Clinical and genomic evaluations of a persistent fatal SARS-CoV-2 infection in a goods syndrome patient: a case report. External Web Site Icon
Tabarsi Payam, et al. BMC infectious diseases 2024 0 0. (1) 216
Coronary artery disease evaluation during transcatheter aortic valve replacement work-up using photon-counting CT and artificial intelligence. External Web Site Icon
Jan M Brendel et al. Diagn Interv Imaging 2024
Evaluation of Informative Content on Cerebral Palsy in the Era of Artificial Intelligence: The Value of ChatGPT. External Web Site Icon
Ayse Merve Ata et al. Phys Occup Ther Pediatr 2024 1-10
Integrative analysis of multimodal patient data identifies personalized predictors of tuberculosis treatment prognosis. External Web Site Icon
Awanti Sambarey et al. iScience 2024 27(2) 109025
Predictive value of multiple imaging predictive models for spread through air spaces of lung adenocarcinoma: A systematic review and network meta‚ÄĎanalysis. External Web Site Icon
Cong Liu et al. Oncol Lett 2024 27(3) 122
An update review of new therapies in sickle cell disease: the prospects for drug combinations. External Web Site Icon
Sanne Lugthart et al. Expert Opin Pharmacother 2024
LFSPROShiny: An Interactive R/Shiny App for Prediction and Visualization of Cancer Risks in Families With Deleterious Germline TP53 Mutations. External Web Site Icon
Nam H Nguyen et al. JCO Clin Cancer Inform 2024 8e2300167
Deep learning in oral cancer- a systematic review. External Web Site Icon
Kritsasith Warin et al. BMC Oral Health 2024 24(1) 212
Evaluating the clinical utility of artificial intelligence assistance and its explanation on the glioma grading task. External Web Site Icon
Weina Jin et al. Artif Intell Med 2024 148102751
Low Percentage of Perforin-Expressing NK Cells during Severe SARS-CoV-2 Infection: Consumption Rather than Primary Deficiency. External Web Site Icon
Kundura Lucy, et al. Journal of immunology (Baltimore, Md. : 1950) 2024 0 0.
Blood Spotlight Review on Gene Therapy for Sickle Cell Disease. External Web Site Icon
Edward J Benz et al. Blood 2024
Development of an Electronic Decision Aid Tool to Facilitate Mainstream Genetic Testing in Ovarian Cancer Patients. External Web Site Icon
Kristen M Shannon et al. Oncologist 2024


Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.