Background: Germline genetic testing is universally recommended for patients with pancreatic cancer, but testing remains infrequent. In May 2018, we implemented a systematic patient intake workflow featuring an in-clinic genetic testing station (GTS) at the University of California San Francisco (UCSF) to expedite genetic counseling and facilitate sample collection. We sought to determine the impact of this innovation on rates of genetic counseling and testing.
Methods: Medical records, patient intake records, and genetic test reports were retrospectively reviewed for new patients with pancreatic cancer eligible for germline testing at UCSF from May 2018 to May 2019. Primary outcomes included the rate of offered genetic counseling and confirmed germline testing. Data were compared for periods before and after GTS implementation. Associations between demographic characteristics and testing rates were assessed.
Results: Genetic counseling/testing was offered to 209 (94%) of 223 eligible patients, and 158 (71%) completed testing (135 at UCSF, 23 elsewhere). Compared with a traditional referral-based genetic counseling model, confirmed testing increased from 19% to 71%, patient attrition between referral and genetics appointment decreased from 36% to 3%, and rate of pathogenic variant detection increased from 20% to 33%. Patients who were younger, identified as non-Hispanic White, and spoke English as a primary language were more likely to complete testing.
Conclusions: Implementation of a systematic patient intake workflow and in-clinic GTS resulted in the highest reported real-world rate of germline testing for patients with pancreatic cancer. Health care disparities were identified and will guide future innovation. This report provides a model for other centers to create a similar testing infrastructure.
Implications For Practice: This study demonstrates that a systematic patient intake workflow and associated in-clinic genetic testing station improve delivery of genetic counseling and completion of germline testing for patients with pancreatic cancer. This study achieved, to the authors' knowledge, the highest real-world rate of confirmed genetic testing in this patient population. This article describes this innovation in detail to guide replication at other medical centers and facilitate guideline-concordant care for patients with pancreatic cancer. This infrastructure can also be applied to other cancers for which germline testing is recommended.
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http://dx.doi.org/10.1002/onco.13968 | DOI Listing |
Alzheimers Dement
December 2024
Brigham and Women's Hospital; Harvard Medical School, Boston, MA, USA.
Background: Previously, we found that germline C3 deletion protected cognition and hippocampal synapses in aged APP/PS1dE9 mice, despite increasing Aß plaques. Here, we crossed our C3 inducible conditional mouse model to APP knockin mice to determine whether global C3 lowering in an adult amyloid mouse model would be protective.
Methods: C3;Rosa26-Cre-ERT2 (C3iKO) mice were crossed to C3;APP mice to generate APP;C3iKO mice, which received 75 mg/kg tamoxifen (TAM; n = 16) or corn oil (CO; n = 15) for 5 days at 3.
Cancer
January 2025
Division of Clinical Cancer Genomics, Department of Medical Oncology, City of Hope National Medical Center, Duarte, California, USA.
Background: The authors assessed the feasibility, acceptability, and impact on cancer worry of a cancer screening program using multicancer early detection (MCED) tests and whole-body magnetic resonance imaging (WBM) in individuals at high cancer risk because of family history or germline variants in cancer-susceptibility genes.
Methods: This prospective trial enrolled participants aged 50 years and older who had a significant family history of cancer or a cancer-susceptibility gene variant. Participants underwent noncontrast WBM and MCED testing.
Physiol Rep
January 2025
Department of Physiology & Biophysics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Sympathoexcitation is a hallmark of heart failure, with sustained β-adrenergic receptor (βAR)-G protein signaling activation. βAR signaling is modulated by regulator of G protein signaling (RGS) proteins. Previously, we reported that Gα regulation by RGS2 or RGS5 is key to ventricular rhythm regulation, while the dual loss of both RGS proteins results in left ventricular (LV) dilatation and dysfunction.
View Article and Find Full Text PDFActa Gastroenterol Belg
January 2025
Department of Gastroenterology, UZ Ghent, Ghent, Belgium.
Background: Pancreatic ductal adenocarcinoma (PDAC) has a known poor prognosis. For a select group, those with BRCA mutations, frontline platinum-based therapy and poly (ADPribose) polymerase inhibitors are options that can potentially lead to survival benefit.
Patients And Methods: We present 2 cases of patients with BRCAmutated pancreatic cancer with liver metastases that achieved a remarkable long-term complete remission on platinum-based chemotherapy.
Front Oncol
December 2024
Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil.
Introduction: The prevalence of germline pathogenic/likely pathogenic variants (P/LP) in high and moderate penetrance (HMP) genes is approximately 7%-10% among breast cancer (BC) patients. The prevalence and spectrum of BC P/LP variants are affected by several factors. There are limited genetic data from Brazilian patients with BC.
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