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Function: strpos
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Function: insertAPISummary
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Filename: helpers/my_audit_helper.php
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Function: formatAIDetailSummary
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Purpose: National efforts have prioritized the identification of effective methods for increasing case ascertainment and delivery of evidence-based health care for individuals at elevated risk for hereditary cancers.
Methods: This study examined the uptake of genetic counseling and testing following the use of a digital cancer genetic risk assessment program implemented at 27 health care sites in 10 states using 1 of 4 clinical workflows: (1) traditional referral, (2) point-of-care scheduling, (3) point-of-care counseling/telegenetics, and (4) point-of-care testing.
Results: In 2019, 102,542 patients were screened and 33,113 (32%) were identified as at high risk and meeting National Comprehensive Cancer Network genetic testing criteria for hereditary breast and ovarian cancer, Lynch syndrome, or both. Among those identified at high risk, 5147 (16%) proceeded with genetic testing. Genetic counseling uptake was 11% among the sites with workflows that included seeing a genetic counselor before testing, with 88% of patients proceeding with genetic testing after counseling. Uptake of genetic testing across sites varied significantly by clinical workflow (6% referral, 10% point-of-care scheduling, 14% point-of-care counseling/telegenetics, and 35% point-of-care testing, P < .0001).
Conclusion: Study findings highlight the potential heterogeneity of effectiveness attributable to different care delivery approaches for implementing digital hereditary cancer risk screening programs.
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http://dx.doi.org/10.1016/j.gim.2023.100802 | DOI Listing |
BMJ Case Rep
December 2024
Facultad de Medicina, Universidad Anahuac Cancun, Cancún, Quintana Roo, Mexico
This report details the case of a preadolescent female patient diagnosed with Kabuki syndrome, a rare genetic disorder characterised by distinctive facial features, growth delay and cognitive impairment. The patient's medical history includes perinatal complications, alongside challenges in developmental milestones, feeding and psychomotor skills since infancy, prompting further investigation. Genetic testing confirmed the diagnosis, revealing a full deletion of The patient underwent a multidisciplinary approach, addressing various aspects of her condition, which resulted in significant improvements in several areas.
View Article and Find Full Text PDFHum Reprod
December 2024
IVIRMA Global Research Alliance, IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
Study Question: Is it possible to predict an euploid chromosomal constitution and identify a transcriptomic profile compatible with extended embryonic development from RNA sequencing (RNA-Seq) data?
Summary Answer: It has been possible to obtain a karyotype comparable to preimplantation genetic testing for aneuploidy (PGT-A), in addition to a transcriptomic signature of embryos which might be suggestive of improved implantation capacity.
What Is Known Already: Conventional assessment of embryo competence, based on morphology and morphokinetic, lacks knowledge of molecular aspects and faces controversy in predicting ploidy status. Understanding the embryonic transcriptome is crucial, as gene expression influences development and implantation.
J Anim Sci
December 2024
TERRA Teaching and Research Center, University of Liège, Gembloux Agro-Bio Tech (ULiège-GxABT), 5030 Gembloux, Belgium.
Using genetic selection for raising intact boars, which improves growth and feed efficiency, is a promising alternative to castration for mitigating boar taint. Selective breeding has the potential to help to identify and select for genetic lines with a reduced risk of boar taint. Common phenotypes are laboratory measurements of skatole (SKA) and androstenone (ANON) i.
View Article and Find Full Text PDFEndocrine
December 2024
U.O. Lipoapheresis and Center for Inherited Dyslipidemias, Fondazione Toscana Gabriele Monasterio, Via Moruzzi, Pisa, Italy.
Familial hypercholesterolemia (FH) is less rare than one might think and, despite highly effective lipid-lowering therapies (LLT), more than half of the patients treated do not reach the lipid target indicated by the guidelines. In these patients, lipoprotein apheresis (LA) is the most effective tool to lowering apo-B containing atherogenic lipoproteins. In own center, since 1994, thanks to routinely cascade testing performed in patients who start LA, we have identified a pediatric population (30 subjects) that we analyzed retrospectively.
View Article and Find Full Text PDFMol Ecol
December 2024
Department of Botany, University of Wyoming, Laramie, Wyoming, USA.
Adaptive radiations are rich laboratories for exploring, testing, and understanding key theories in evolution and ecology because they offer spectacular displays of speciation and ecological adaptation. Particular challenges to the study of adaptive radiation include high levels of species richness, rapid speciation, and gene flow between species. Over the last decade, high-throughput sequencing technologies and access to population genomic data have lessened these challenges by enabling the analysis of samples from many individual organisms at whole-genome scales.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!