To evaluate the utilization of genetic testing after implementing a comprehensive multi-disciplinary care (cMDC) program for breast cancer and to assess for racial disparities. This retrospective study included patients newly diagnosed with invasive breast cancer 1 year before and 1 year after implementing a cMDC program to assess the rate of genetic referrals. Appropriate genetic referrals were defined by age, family history, triple-negative status, and personal history based on National Comprehensive Cancer Network guidelines. Secondary outcomes included rates of recommended testing, actual testing, compliance, and equity in genetic referrals across demographics (race, insurance type, and hospital site). Statistical analyses used the Fisher exact test or chi-square test. The 431 patients identified included 116 non-cMDC and 315 cMDC patients. Following implementation of cMDC, a significant increase occurred not only in appropriate genetic referrals (35.3%-55.5%) but also in inappropriate referrals (1.7%-15.5%) (P = .001). Overall attendance increased among both cohorts, Caucasians were more compliant with attending their genetic appointment compared to their African American counterparts (non-cMDC P = .025, cMDC P = .004). In the cMDC group, African Americans demonstrated a 6% increase in attendance compared to a 2% decrease among Caucasians. More appropriate genetic referrals were made to those with private insurance following implementation of cMDC. Utilizing a cMDC approach to breast cancer care may help increase appropriate utilization of genetics.
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http://dx.doi.org/10.1111/tbj.13747 | DOI Listing |
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia.
Rheumatoid Arthritis (RA) is a chronic and progressive autoimmune disease that affects synovial tissues has greater risk of developing secondary osteoporosis (OP). In particular, polymorphisms in Adenosine Monophosphate Deaminase 1 (AMPD1) and Methylenetetrahydrofolate Reductase (MTHFR) affect the outcome of methotrexate (MTX) treatment in patients with RA. Therefore, this study aimed to determine the association of AMPD1 rs17602729, MTHFR C677T, and MTHFR A1298C polymorphisms with MTX activity in RA patients.
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January 2025
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
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Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
J Community Genet
January 2025
Department of Human Genetics, Emory University School of Medicine, 101 Woodruff Circle, 7th Floor Suite 7130, Atlanta, GA, 30322, USA.
As the role of primary care providers (PCPs) in genetic medicine increases, there is a need for training related to the integration of genetics into primary care. However, little is known about PCPs' attitudes towards and perceived needs for such training. We conducted semi-structured interviews with nine PCPs to capture information about their perceptions of their role in genetics and their continuing medical educational needs related to genetics in primary care, and we conducted thematic analysis.
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