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Purpose: To systematically review the implementation strategies, outcomes, and quality of interventions aimed at increasing the uptake of breast cancer-related genetic testing services among high-risk women.
Methods: A systematic search was conducted in PubMed, CINAHL, PsycINFO, EMBASE, Cochrane Library, and Campbell Coordinating Group databases from January 2005 to October 2024. Studies were included if they evaluated interventions to increase genetic testing uptake or facilitate decision-making about genetic testing.
Results: A total of 27 articles were identified, including 18 interventions aimed at supporting breast cancer genetic testing uptake. Half of the interventions evaluated face-to-face counseling, while the other half employed alternative counselling modalities such as standardized DVD counseling, tailored written materials, and remote video or telephone counseling. Participant satisfaction was consistently high (≥80%) among most interventions, but cost analyses suggested time savings with alternative delivery strategies. However, feasibility varied according to delivery mode. Remote video counseling faced some technical challenges, decision aids/patient education materials were partly less engaging, and alternative counseling modalities might provide more limited opportunities to discuss emotional and social concerns. None of the interventions progressed beyond early adoption.
Conclusions: Alternative approaches to genetic counseling, such as video- and telephone-based delivery and tailored written materials, show promise in terms of feasibility and acceptability. Future research should adopt more rigorous, framework-guided implementation methods with attention to long-term sustainability, while also promoting greater consistency in terminology to improve transparency and comparability.
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http://dx.doi.org/10.1016/j.gim.2025.101573 | DOI Listing |
Genet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
Eur J Case Rep Intern Med
August 2025
National Rehab Hospital, Dublin, Ireland.
Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.
View Article and Find Full Text PDFEur Heart J Case Rep
September 2025
Feinberg School of Medicine, Northwestern University, 303E Chicago Ave, Ward 1-003, Chicago, IL 60611, USA.
Background: Cardiac laminopathies, associated with mutations in the LMNA gene, are a rare inherited disorder characterized by a broad range of clinical manifestations. There are currently no data on the association between supraventricular re-entrant tachycardias and LMNA-related cardiomyopathy.
Case Summary: A 26-year-old male presented with either wide-QRS tachycardia with a left bundle branch block (LBBB) pattern or narrow QRS tachycardia, as well as a history of palpitations since age 15.
Front Microbiol
August 2025
Guangxi Key Laboratory of Aquatic Genetic Breeding and Healthy Aquaculture, Guangxi Academy of Fishery Science, Nanning, Guangxi, China.
A bacterial strain (No. 20230510) was isolated from the kidneys of diseased in Guangxi, China, since 2023. Artificial infection experiments demonstrated that this strain caused the observed disease in .
View Article and Find Full Text PDFCongenital dyserythropoietic anemia type III (CDA III) is an extremely rare inherited disorder characterized by ineffective erythropoiesis, multinucleated erythroblasts in the bone marrow, and variable clinical gravity. We report the case of a 6-year-old boy, presenting with abdominal distension, failure to thrive, dark urine, intermittent itching, and recurrent infections. Physical examination revealed pallor, hepatomegaly, and splenomegaly.
View Article and Find Full Text PDF