Genomic sequencing (GS) can reveal secondary findings (SFs), findings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically significant primary and secondary GS results is needed to effectively manage this large volume of results. The aim of this study was to develop a comprehensive approach to communicate all clinically significant primary and SF results. A genomic test report with accompanying patient and provider letters were developed in three phases: review of current clinical reporting practices, consulting with genetic and non-genetics experts, and iterative refinement through circulation to key stakeholders. The genomic test report and consultation letters present a myriad of clinically relevant GS results in distinct, tabulated sections, including primary (cancer) and secondary findings, with in-depth details of each finding generated from exome sequencing. They provide detailed variant and disease information, personal and familial risk assessments, clinical management details, and additional resources to help support providers and patients with implementing healthcare recommendations related to their GS results. The report and consultation letters represent a comprehensive approach to communicate all clinically significant SFs to patients and providers, facilitating clinical management of GS results.
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http://dx.doi.org/10.1007/s00439-022-02466-5 | DOI Listing |
Jpn J Ophthalmol
January 2025
Department of Ophthalmology, Graduate of Medicine, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
Purpose: To assess the efficacy and safety of PreserFlo MicroShunt (PMS) combined with mitomycin C in patients with medically treated primary open-angle glaucoma (POAG).
Study Design: A retrospective observational study.
Methods: The study examined 83 eyes from 83 patients with medically treated glaucoma surgery naive POAG.
Dig Dis Sci
January 2025
Department of Internal Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, 138 Sheng Li Road, Tainan, 70401, Taiwan.
Aim: Sarcopenic obesity (SO) is associated with adverse outcomes in diseased patients. This study aimed to examine the prevalence and risks associated with SO, with a focus on the impact of SO on cardiovascular risk in patients with MASLD.
Materials And Methods: In this cross-sectional study, patients with MASLD were prospectively enrolled.
Clin Rheumatol
January 2025
Department of Public Health, University of Murcia, Campus de Ciencias de la Salud, Murcia, 30120, Spain.
Introduction: Therapeutic drug monitoring (TDM) in inflammatory rheumatic diseases (RMDs) is gaining interest. However, there are unresolved questions about the best practices for implementing TDM effectively in clinical settings.
Objective: The primary objective of this study was to evaluate whether early TDM of adalimumab predicts drug survival at 52 weeks in patients with RMDs.
Fam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFJ Endocrinol Invest
January 2025
Division of Internal Medicine 4 and Hypertension Unit, Department of Medical Sciences, University of Torino, Torino, Italy.
Purpose: The delayed or missed diagnosis of secondary hypertension contributes to the poor blood pressure control worldwide. This study aimed to assess the diagnostic approach to primary aldosteronism (PA) and pheochromocytoma (PHEO) among Italian centers associated to European and Italian Societies of Hypertension.
Methods: Between July and December 2023, a 10-items questionnaire was administered to experts from 82 centers of 14 Italian regions and to cardiologists from the ARCA (Associazioni Regionali Cardiologi Ambulatoriali) Piemonte.
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