Purpose Of Review: The field of cancer genetics and genetic testing is expanding rapidly. As our understanding of the hereditary nature of endocrine tumors increases, the role of genetic counseling on the multidisciplinary endocrinology team is becoming more critical. This brief review will highlight the role of the certified genetic counselor in this setting.
Recent Findings: Genetic counseling and testing may aid in the management of the endocrine patient through early diagnosis and detection of disease, by optimizing surgical decision-making and improving overall survival. Certified genetic counselors assist the endocrinology team by eliciting a detailed pedigree, determining the appropriate genetic test to order, obtaining informed consent, interpreting complex genetic test results, providing psychosocial and family counseling, and assessing which family members are at risk. Many endocrine tumors can be caused by a variety of different genes and investment in the genetic counseling process likely increases the chance that the correct genetic test is ordered, results are interpreted accurately, and adequate informed consent and counseling is offered.
Summary: The field of endocrine genetics is growing exponentially and testing will likely play an even greater role in surveillance, medical management, and surgical decision-making in the next decade. Genetic counseling both pretesting and posttesting is essential to accurate, cost-efficient care for the endocrine patient and the entire family.
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http://dx.doi.org/10.1097/CCO.0b013e32833fc9a9 | DOI Listing |
J Clin Med
January 2025
Medical Oncology Department, Hospital Universitario Miguel Servet, 50012 Zaragoza, Spain.
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Eye Clinic, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy.
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View Article and Find Full Text PDFAmniocentesis is a widely used invasive prenatal diagnostic procedure, recognized for its high sensitivity and low risk of complications. This study aims to evaluate the association between amniocentesis and pregnancy outcomes, such as miscarriage, preterm rupture of membranes (PROM), and preterm birth, as well as perinatal outcomes. A case-control study was conducted at the Regional Hospital in Kielce, Poland, from 2016 to 2022, involving 1834 patients, 225 of whom underwent amniocentesis, while 1609 did not receive any invasive diagnostics.
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Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.
View Article and Find Full Text PDFMedicina (Kaunas)
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Department of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute for Mother and Child Health, 20382 Bucharest, Romania.
Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!