This study investigates the preparedness of genetic counselors in addressing the potentially unique elements and considerations of Indigenous patients in the United States and Canada. Considering the healthcare disparities Indigenous populations face, particularly in specialty care, this study aims to assess the preparedness of genetic counselors in addressing the unique needs and cultural considerations of Indigenous patients. An online survey was utilized, and a subset of participants was selected to be interviewed. Results reveal genetic counselors felt less competent with Indigenous patients compared to non-Indigenous patients, especially in specific aspects of genetic counseling such as responding to cultural issues or identifying resources. Factors such as increased years of experience and more exposure to Indigenous populations during graduate training correlated with higher self-rated competency. Despite a patient population that is on average 7% Indigenous by self-report, genetic counselors lacked exposure to Indigenous encounters in graduate programs and professional training. These findings underscore the importance of enhancing genetic counseling education and exposure to Indigenous training opportunities such as voluntary events or Indigenous guest speakers to improve cultural competency and address healthcare disparities for Indigenous communities.
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http://dx.doi.org/10.1007/s40615-024-02194-8 | 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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