Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5-10% have a pathogenic germline variant (PGV) in a PDAC susceptibility gene. Guidelines recommend genetic testing among all individuals with PDAC. Additionally, at-risk relatives of PDAC patients benefit from their own genetic education, risk assessment, and testing. Multigene panel testing (MGPT) can identify individuals with inherited cancer risk who can benefit from early cancer surveillance and risk reduction strategies. This manuscript discusses various healthcare delivery models for MGPT including traditional in-person genetic counseling, novel integrated in-person infrastructures, telemedicine genetics care via telephone- or video-visits and direct-to-consumer testing. Barriers and facilitators to care on the individual, provider, and system level are also outlined including specific considerations for historically marginalized communities.
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http://dx.doi.org/10.1007/s10689-024-00389-w | DOI Listing |
Front Child Adolesc Psychiatry
December 2022
Child Healthcare Department, Children's Hospital of Nanjing Medical University, Nanjing, China.
Purpose: To explore the genetic cause of children with unidentified etiology of neurodevelopmental disorders, thus providing references for the diagnosis, treatment and genetic counseling.
Design And Methods: Children with neurodevelopmental disorders but unidentified etiology in the Child Healthcare Department, Children's Hospital of Nanjing Medical University from November 2018 to December 2021 were retrospectively analyzed. A total of 2 ml of peripheral venous blood was collected from the child and their parents for the whole exome sequencing (WES) and copy number variation (CNV) detection.
JCEM Case Rep
January 2025
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Congenital hypogonadotropic hypogonadism (CHH) can cause delayed secondary sexual characteristics and contribute to juvenile osteoporosis, with multiple causative genes having been reported. We treated a 27-year-old man diagnosed with central hypogonadism, presenting with delayed secondary sexual characteristics and juvenile osteoporosis, using bone resorption inhibitors and testosterone therapy. Genetic testing revealed missense variants both in the fibroblast growth factor receptor 1 () and gonadotropin-releasing hormone receptor () genes, a combination that has not been previously reported.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Section of Endocrinology and Investigative Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College, London W12 ONN, UK.
We report a 31-year-old man with diarrhea and tachycardia. Diagnostic workup confirmed raised free thyroid hormones with unsuppressed thyroid stimulating hormone (TSH). Laboratory assay and medication interference were excluded.
View Article and Find Full Text PDFMol Genet Metab Rep
March 2025
Newborn Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, China.
Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the gene.
Methods: In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family verification were performed via high-throughput sequencing combined with Sanger sequencing.
Laryngoscope Investig Otolaryngol
February 2025
Division of Otolaryngology - Head and Neck Surgery, Department of Surgery Dalhousie University Halifax Nova Scotia Canada.
Objective: Carotid body tumors (CBTs) are rare neoplasms of the paraganglia at the carotid bifurcation. While typically benign, CBTs occasionally exhibit malignancy, metastasizing to nearby lymph nodes. Histopathologic analysis alone is insufficient to confirm malignancy, requiring metastases to non-neuroendocrine tissue for a definitive diagnosis.
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