Although some researchers have attempted to define genetic counseling practice goals, no study has obtained consensus about the goals from a large sample of genetic counselors. The Reciprocal-Engagement Model (REM; McCarthy Veach, Bartels & LeRoy, 2007) articulates 17 goals of genetic counseling practice. The present study investigated whether these goals could be generalized as a model of practice, as determined by a larger group of clinical genetic counselors. Accordingly, 194 genetic counselors were surveyed regarding their opinions about the importance of each goal and their perceptions of how frequently they achieve each goal. Mean importance ratings suggest they viewed every goal as important. Factor analysis of the 17 goals yielded four factors: Understanding and Appreciation, Support and Guidance, Facilitative Decision-Making, and Patient-Centered Education. Patient-Centered Education and Facilitative Decision-Making goals received the highest mean importance ratings. Mean frequency ratings were consistently lower than importance ratings, suggesting genetic counseling goals may be difficult to achieve and/or not applicable in all situations. A number of respondents provided comments about the REM goals that offer insight into factors related to implementing the goals in clinical practice. This study presents preliminary evidence concerning the validity of the goals component of the REM.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/s10897-013-9647-6 | DOI Listing |
Front Child Adolesc Psychiatry
December 2024
Department of Community and Family Medicine, All India Institute of Medical Sciences, Deoghar (AIIMS Deoghar), Deoghar, India.
Autism spectrum disorder (ASD) is a multifaceted developmental condition characterized by persistent challenges in social communication, restricted interests, and repetitive behaviors. Though there is no cure, early and intensive interventions can significantly improve the quality of life for those affected. The aim of this paper is to examine the complexities of autism spectrum disorder (ASD) from a public health perspective in South East Asian region, highlighting the global rise in prevalence and the compounded challenges posed by the COVID-19 pandemic.
View Article and Find Full Text PDFFuture Oncol
January 2025
Department of Oncology, University of Turin, Division of Medical Oncology, Ordine Mauriziano Hospital, Turin, Italy.
Aims: To explore physician-reported knowledge, use, and perceptions of genetic testing for advanced ovarian cancer management.
Materials & Methods: Gynecology/oncology specialists ( = 390) in the US, Europe, Canada, Japan, and Australia completed an online survey spanning March 2021 to April 2022.
Results: Physician-reported breast cancer gene mutation (BRCAm) testing rates increased over the 2 years before the survey; most patients underwent testing in the preceding 6 months.
Orphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
Reprod Biol Endocrinol
January 2025
Department of Clinical Psychology and Psychotherapy, University of Zurich, Binzmühlestrasse 14, Zurich, 8050, Switzerland.
Background: Despite the growing use of social egg freezing (SEF), research focusing on its psychological aspects is lacking. This study aimed to investigate possible psychological predictors, reasons, and outcomes of SEF in German-speaking countries.
Methods: The cross-sectional study included 1,131 women (average age 31 years) who had never used medical egg freezing.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!