The goals for this investigation were to assess individuals' expectations for social support from genetic counselors, and to explore how these expectations influence perceptions of genetic counselor effectiveness. Two studies were conducted to address these goals. Results from the first study show that individuals most frequently expect genetic counselors to provide options and support following the disclosure of distressing test results, while data from the second study demonstrate that expectations play a significant role in individuals' assessment of genetic counselor effectiveness. These findings shed light on what individuals expect from genetic counselors following the disclosure of medically positive test results and inform how these expectations influence the success of genetic counseling sessions.
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http://dx.doi.org/10.1023/A:1009493424814 | DOI Listing |
J Community Genet
January 2025
Graduate Program in Structural and Functional Biology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
In 2018, Portuguese researchers proposed the "Tool for Quality Assessment of Genetic Counseling," a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions.
View Article and Find Full Text PDFAndrology
January 2025
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Objectives: Acetylated tubulin is a hallmark of flagellar stability in spermatozoa, and studies have demonstrated the ability of CDYL to function as a tubulin acetyltransferase in spermatozoa. Of note, germline conditional knockout of Cdyl can lead to asthenoteratozoospermia and infertility in male mice. However, the role of CDYL gene in human fertility remains uncharacterized.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, US.
The American Academy of Pediatrics (AAP) health supervision guidelines for children with Down syndrome are important for preventative and symptom-based care. Studies, however, have shown low overall adherence to these care recommendations due to a lack of provider familiarity, inaccessibility of a medical home, and caregiver burden. In a population of children with Down syndrome, using a retrospective chart review, we evaluated overall patient adherence to the medical components of the 2011 AAP guidelines, along with potential influencing factors, to determine if there was a difference in adherence between those who had genetic counseling and those who had not.
View Article and Find Full Text PDFIntroduction: This study evaluated whether comorbidities such as genetic conditions, other congenital anomalies, infection, and other exposures impact the mortality rate and/or neurologic outcomes of patients with congenital ventriculomegaly.
Methods: This was a retrospective cohort study that assessed the mortality rate and developmental delay of 91 patients diagnosed with congenital ventriculomegaly followed at Cincinnati Children's Hospital Medical Center between Jan 1, 2010-Dec 31, 2020.
Results: Of the 91 patients included in the study, 20 (22.
JMIR Med Inform
January 2025
Graduate School of Science and Technology, Nara Institute of Science and Technology, Ikoma, Japan.
Background: Advances in genetics have underscored a strong association between genetic factors and health outcomes, leading to an increased demand for genetic counseling services. However, a shortage of qualified genetic counselors poses a significant challenge. Large language models (LLMs) have emerged as a potential solution for augmenting support in genetic counseling tasks.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!