Despite it being generally acknowledged that counseling supervision is a vital part of the work for experienced genetic counselors and not just students, not all practising genetic counselors in the United Kingdom and Eire have access to this yet. This case study documents the supervision experience of our team of genetic counselors from Cambridge in the U.K. We document our retrospective thoughts on working practice before supervision was available in our department. We also give an overview of the individual and collective views of having one-to-one supervision only and then one year later, the impact of adding group supervision. Our 'supervision journey' is recorded using a practitioner-centred approach with a mixed method of data collection. Two focus group discussions and two written questionnaires were used, at different time points to gather attitudes. This paper captures experiences as our practice of supervision has evolved. This work is relevant to practising genetic counselors around the world who either do not yet have access to supervision, are planning its implementation or else are adding different types of supervision to their practice.
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http://dx.doi.org/10.1007/s10897-006-9074-z | DOI Listing |
World J Surg Oncol
January 2025
Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring Road West, Fengtai District, Beijing, 100070, China.
Background: This study aims to identify a pathogenic SDHD mutation associated with hereditary head and neck paraganglioma (HNPGL) in a Chinese family and to explore its implications for genetic counseling.
Methods: The study involved a family with 15 members spanning three generations. A 31-year-old patient (II-4) was diagnosed with a left parotid gland tumor and a right carotid body tumor, while both the father and elder sister had right carotid body tumors, and the third sister had bilateral carotid body tumors.
Cerebellum
January 2025
Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Penn FTD Center, University of Pennsylvania, Philadelphia, PA, USA.
Background: Previously, the Penn Frontotemporal Degeneration (FTD) Center developed and validated criteria to stratify pedigrees of patients with FTD by likelihood of identifying a genetic etiology (Wood, JAMA Neurol., 2013). Pedigrees were classified as high-risk, medium-risk, low-risk, apparent sporadic, or unknown significance.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Amsterdam UMC location VUmc, Amsterdam, Noord-holland, Netherlands.
Background: SORL1 encodes the retromer-associated receptor SORLA that functions in endosomal recycling. Rare variants in SORL1 have been associated with Alzheimer's disease (AD) and rare pathogenic variants are estimated to occur in up to 2.75% of early onset AD patients and in 1.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Columbia University Irving Medical Center, New York, NY, USA.
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