Demand for cancer genetic counseling has grown rapidly in recent years as germline genomic information has integrated into cancer care. There are currently an insufficient number of genetic counselors (GC) to address genetic testing need through traditional pre- and post-test counseling. Alternative genetic counseling frameworks, discussed here, are under study to increase access to genetic testing while optimizing the skillsets of existent master's-trained GCs.
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J Assist Reprod Genet
January 2025
University of Melbourne, Parkville, Australia, VIC.
Purpose: Professional bodies currently advise all pregnant individuals undertake confirmatory prenatal diagnostic testing following preimplantation genetic testing for monogenic conditions (PGT-M). We aimed to ascertain the uptake of prenatal diagnostic testing following PGT-M in a large single-centre population.
Methods: This observational linkage study was undertaken using routinely collected outcome data from PGT-M cycles performed at one of Australia's largest PGT-M providers and a statewide dataset of all prenatal samples undergoing cytogenetic analysis in Victoria, Australia, between 2015 and 2022.
Ophthalmologie
January 2025
Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Deutschland.
The accurate diagnosis of central serous chorioretinopathy (CSC) and its distinction from differential diagnoses is crucial for effective patient counseling and treatment. This is achieved through a targeted patient history and multimodal imaging, which distinguish CSC from other ocular diseases also characterized by subretinal fluid and changes in the retinal pigment epithelium. In this article we identify the key differential diagnoses of CSC and illustrate the characteristic differential diagnostic features of each disease.
View Article and Find Full Text PDFClin Pract
January 2025
Department of Neurosurgery, University Hospital, 04103 Leipzig, Germany.
: PTEN hamartoma tumor syndrome (PHTS) has evolved into an umbrella term for a range of syndromes, characterized by loss-of-function variants in the phosphatase and tensin homolog (PTEN) tumor suppressor gene on chromosome 10q23.31. This can result in a lifelong tumor predisposition in patients.
View Article and Find Full Text PDFWhile telegenetic counseling has increased substantially since the start of the COVID-19 pandemic, previous studies reported concerns around building rapport, nonverbal communication, and the patient-counselor relationship. This qualitative evaluation elicited feedback from genetic counselors, referring clinicians, and patients from a single healthcare organization to understand the user-driven reasons for overall satisfaction and experience. We conducted 22 in-depth, semi-structured interviews with participants from all 3 groups between February 2022 and February 2023.
View Article and Find Full Text PDFJ Endocr Soc
January 2025
Division of Pediatric Endocrinology, Hadassah Medical Center, Jerusalem 91240, Israel.
Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.
Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.
Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.
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