Germline genetic evaluation is indicated for all patients with epithelial ovarian cancer (EOC). For testing to have clinical utility, results must be documented within the electronic medical record (EMR) and accessible to providers at the point of care, which can be challenging in the context of current EMR limitations and genetic testing processes. We examined the receipt of genetics services and EMR capture of genetic testing results in patients with EOC. We conducted a retrospective chart review to examine germline genetic evaluations among patients with EOC seen by a gynecologic or medical oncologist at the University of Pennsylvania in 2016. EMRs were reviewed to determine: (1) if patients were referred for genetic evaluation; (2) if genetic testing was performed; (3) if results were documented in office notes, scanned third-party test reports, and/or the EMR problem list; (4) if provider notes correctly listed the variant classification. Overall, 413 (62%) of patients had documented genetic testing. Genetic testing was documented in almost all provider notes (96%) and the majority of scanned EMR reports (64%). Pathogenic variants were found in 119 (29%) individuals; the majority (70%) had genetic testing documented within EMR problem lists. Provider notes were highly accurate in describing variant classification. In this study, genetic testing was performed and documented in the EMR for most EOC patients. Approximately one-third of those tested did not have scanned test reports specifying variant found, limiting the utility of test results for cascade testing and therapeutic decisions.
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http://dx.doi.org/10.1002/jgc4.1731 | DOI Listing |
Retin Cases Brief Rep
October 2024
Singapore National Eye Centre, Singapore.
Purpose: We describe an atypical presentation of an 11-year-old female with enhanced S-cone syndrome (ESCS).
Methods: Case report. The patient underwent a thorough ophthalmic examination and investigations such as colour fundus photography, optical coherence tomography, fundus autofluorescence, fluorescein and indocyanine angiography, an electroretinogram and genetic testing.
Oncotarget
December 2024
The FDA approval on September 29, 2023, for "class III " blood tests to assess hereditary cancer risk make widely available tests that may be obtained through a Direct to Consumer (DTC) path. There is concern that germ-line predisposition tests may not be reimbursed by insurance adding financial burdens to individuals and families. It is generally agreed in the fields on oncology and genetics that germ-line testing for disease susceptibility including cancer is best performed under care of a healthcare provider with genetic counseling.
View Article and Find Full Text PDFGlob Public Health
December 2025
Department of Oncology and Hematology, ABC Medical School, Sao Paulo, Brazil.
Precision oncology (PO) has significantly advanced lung cancer treatment by enabling personalised therapy based on genetic mutations. However, equitable access to molecular testing and targeted therapies remains a challenge, particularly in resource-limited settings such as the Brazilian Public Health System (SUS). To identify the challenges faced by SUS in caring for patients with non-small cell lung cancer (NSCLC) in terms of access to Precision Oncology.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Türkiye.
Objectives: Premature ovarian insufficiency (POI) affects 1 in 10,000 children, with its molecular causes largely unknown. Adult studies suggest that low androgen levels induce ovarian insufficiency, but data on about this in children is limited. This study aims to assess the prevalence of low androgen levels in childhood POI and its relationship with adrenal insufficiency.
View Article and Find Full Text PDFArch Pathol Lab Med
December 2024
Hematopathology and Transfusion Medicine, University Health Network, Toronto, Ontario, Canada (Xia).
Context.—: Small biopsies are used for histologic, immunophenotypic, cytogenetic, molecular genetic, and other ancillary studies. Occasionally, this diagnostic tissue is exhausted before molecular testing can be performed.
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