The field of cancer genetic testing has made great advances in correctly identifying patients at risk for hereditary cancer syndromes. These tests, used during a genetic consultation, promote earlier detection of cancer and potentially increase survival. Despite these advancements, a large number of persons at risk for BRCA1/2 mutations remain untested due to a shortage of genetic counselors and lack of clinician knowledge on how to properly screen, identify, and refer patients to genetic counseling. We suggest team-based practices that physician associates/assistants (PAs) and NPs can use in collaboration with genetic counselors. We also explore how PAs and NPs can alleviate the burden on genetic counselors by taking a comprehensive family history, providing elements of counseling, and ordering appropriate genetic tests. This approach maximizes the amount of time the patient spends receiving actual genetic counseling. By creating this collaborative relationship, PAs and NPs can help increase the number of qualifying patients who receive genetic testing and counseling for hereditary breast and ovarian cancer syndromes.
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http://dx.doi.org/10.1097/01.JAA.0000873796.81961.da | DOI Listing |
Acta Vet Scand
January 2025
Department of Animal Health and Antibiotic Strategies, Swedish Veterinary Agency, Uppsala, Sweden.
Background: Antibiotic resistant bacteria are a threat to both human and animal health. Of special concern are resistance mechanisms that are transmissible between bacteria, such as extended-spectrum beta-lactamases (ESBL) and plasmid-mediated AmpC (pAmpC). ESBL/AmpC resistance is also of importance as it confers resistance to beta-lactam antibiotics including third generation cephalosporins.
View Article and Find Full Text PDFBreast Cancer Res Treat
January 2025
University of Pittsburgh School of Medicine (Center for Clinical Genetics and Genomics), Pittsburgh, PA, USA.
Sci Rep
January 2025
Genetic Analysis Department, Tsukiji Registered Clinical Laboratory, Riken Genesis Co., Ltd., Tokyo, Japan.
Comprehensive genomic profiling (CGP) is increasingly used as a clinical laboratory test and being applied to cancer treatment; however, standardization and external quality assessments (EQA) have not been fully developed. This study performed cost-effective EQA and proficiency tests (PT) for CGP testing among multiple institutions those belong to the EQA working group of Japan Association for Clinical Laboratory Science (JACLS). This study revealed that preanalytical processes, such as derived nucleic acids (NA) extraction from formalin fixed paraffine embedded (FFPE) samples, are critical.
View Article and Find Full Text PDFNeurol Sci
January 2025
Department of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Background And Objectives: Vanishing white matter disease (VWMD) is an autosomal recessive leukoencephalopathy caused by mutations in the EIF2B1-5 genes, typically rare in adulthood. We present a case of adult-onset VWMD with a novel EIF2B2 mutation.
Methods: We collected the patient's clinical data, cerebrospinal fluid (CSF) results, laboratory tests, imaging features, genetic analysis, and follow-up data over a 4-year period.
Nat Commun
January 2025
Department of Developmental and Cell Biology, University of California, Irvine, CA, USA.
Functional analysis of non-coding variants associated with congenital disorders remains challenging due to the lack of efficient in vivo models. Here we introduce dual-enSERT, a robust Cas9-based two-color fluorescent reporter system which enables rapid, quantitative comparison of enhancer allele activities in live mice in less than two weeks. We use this technology to examine and measure the gain- and loss-of-function effects of enhancer variants previously linked to limb polydactyly, autism spectrum disorder, and craniofacial malformation.
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