Purpose: Genetic testing is ubiquitous in the field of medicine and is often ordered or requested by primary care providers, nongenetics subspecialists, and patients themselves. Other studies have shown that providers are often not comfortable ordering genetic testing. There have been initiatives to teach these concepts via continuing medical education; however, there is not a standardized training program for teaching resident physicians about genetic testing.
Methods: During September to October 2020, we recruited all the pediatrics residents at our institution via email (N = 102). Residents were invited to complete a Qualtrics electronic survey that addressed self-perceived level of knowledge about core concepts of genetic testing, as well as self-perceived confidence discussing these concepts with families.
Results: Response rate was 46 to 102 (45%). Proportions of respondents reporting they felt insufficiently knowledgeable ranged from 28% (basic concepts of genetics) to 80% (Genetic Information Nondiscrimination Act). Most pediatrics residents agreed that a curriculum teaching basics of genetic testing would be helpful to them. Desired curricular topics included indications and limitations of genetic testing, testing procedures, and counseling families.
Conclusion: Despite its expanding importance across medicine, genetics education is lacking in pediatrics residency programs and residents would benefit from a curriculum teaching basic concepts of genetic testing.
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http://dx.doi.org/10.1016/j.gim.2022.08.003 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Department of Biology, University of Kentucky, Lexington, KY 40508.
Identifying why complex tissue regeneration is present or absent in specific vertebrate lineages has remained elusive. One also wonders whether the isolated examples where regeneration is observed represent cases of convergent evolution or are instead the product of phylogenetic inertia from a common ancestral program. Testing alternative hypotheses to identify genetic regulation, cell states, and tissue physiology that explain how regenerative healing emerges in some species requires sampling multiple species among which there is variation in regenerative ability across a phylogenetic framework.
View Article and Find Full Text PDFPLoS Genet
January 2025
Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
Understanding the genetic regulatory mechanisms of gene expression is an ongoing challenge. Genetic variants that are associated with expression levels are readily identified when they are proximal to the gene (i.e.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Department of Endoscopy, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
This study enrolled 10 patients diagnosed with premalignant lesions and early-stage gastric cardia adenocarcinoma (GCA), confirmed through endoscopic examination. These patients were subjected to next-generation sequencing (NGS) using a customized 1123-gene panel to identify genetic alterations and signaling pathways. The results were compared to stage IIB to IV GCA samples from the cancer genome atlas (TCGA) and a cohort of Hong Kong patients.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Department of Pathology, Deyang Peoples' Hospital, Deyang, Sichuan Province, China.
Rationale: Ependymomas are commonly prevalent intramedullary neoplasms in adults, with hardly any cases of exophytic extramedullary ependymoma being reported. Meningiomas, on the contrary, are one of the most common intradural extramedullary (IDEM) tumors. However, the occurrence of both IDEM tumors simultaneously is extremely rare.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, China.
Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!