In 2009, the National Society of Genetic Counselors Service (NSGC) Delivery Model Task Force defined genetic counseling service delivery models including telephone (genetic counseling provided remotely by telephone) and telegenetics (counseling provided remotely using videoconferencing). Little is known about the experience of genetic counselors practicing telemedicine in the USA. We sought to evaluate perceived satisfaction, advantages, disadvantages, and barriers to the practice and implementation of telegenetics by practicing genetic counselors. A 21-question online survey was distributed via the NSGC's member directory. Descriptive statistics and a thematic analysis were used to analyze data. A total of 344 surveys were completed of which 235 (68.3%) respondents had delivered genetic counseling via telemedicine and 109 (36.6%) had not. Overall genetic counseling providers who had provided telegenetics were satisfied or very satisfied with their position (91%) and those who were not performing telegenetics were at least slightly interested in a telehealth position (92%).The most common appealing reasons for working in or wanting to work in telemedicine included an innovative approach to healthcare delivery, aspects of remote positions such as the ability to work from home, and flexibility of hours. Unappealing characteristics of telemedicine included the inability to see nonverbals, limited psychosocial counseling, and limited social interaction with colleague that is associated with remote positions. Barriers to implementation of telegenetics were noted by 53% of respondents with the largest barrier being billing and reimbursement. The results of this work suggest that telegenetics service organizations could consider increasing social interactions, attempting to use the preferred method of care (video) to increase ability to see nonverbals, offering flexible work hours, and allowing time to address psychosocial issues as they arise in consultations.
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http://dx.doi.org/10.1007/s10897-017-0200-x | 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.
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