Background: Increasing demand for cancer genetics services has necessitated an urgent review of how these services are organized and, in particular, identification of an effective role for primary care.
Objectives: We aimed to assess the views of GPs on their role in cancer genetics services and their confidence in performing that role; to assess their understanding of cancer genetics, current practice and referral behaviour; and to identify needs for information and training to enable GPs to play an effective role in these services.
Method: A cross-sectional questionnaire survey of GPs was conducted through general practices in SE Scotland; 397 (response rate 59.3%) GPs returned a completed questionnaire. Outcome measures were: responders' perceptions of their role in cancer genetics services; confidence within that role; understanding of cancer genetics; current practice regarding patients presenting with concerns about their family history of cancer; and perceived information and training needs.
Results: GPs identified their role to be: taking a family history; making appropriate referrals to specialist services; providing emotional support; teaching breast self-examination; and discussing need for screening. Lack of confidence within this role was reflected in low levels of understanding of cancer genetics and in inappropriate referral practices. Concerns were expressed about the increasingly specialist role demanded of primary care. A desire for referral guidelines and community genetics clinics was identified.
Conclusions: GPs readily identify a role for themselves in cancer genetics services, but admit to a lack of confidence in this area, calling for clear referral guidelines and specialist community support. Current inappropriate referral to specialist services results from a lack of confidence in estimating cancer risk, highlighting the need for the development of clear referral criteria. Given the rapidly increasing demand for cancer genetics services and the vital role of primary care, it is important to identify a model of these services that facilitates effective involvement of GPs without further increasing their workload.
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http://dx.doi.org/10.1093/fampra/16.5.468 | DOI Listing |
Phys Rev Lett
December 2024
BM Research Europe, Hartree Centre, Daresbury WA4 4AD, United Kingdom.
In this Letter, we study the phase transition between amorphous ices and the nature of the hysteresis cycle separating them. We discover that a topological transition takes place as the system transforms from low-density amorphous ice (LDA) at low pressures to high-density amorphous ice (HDA) at high pressures. Specifically, we uncover that the hydrogen bond network (HBN) displays qualitatively different topologies in the LDA and HDA phases: the former characterized by disentangled loop motifs, with the latter displaying topologically complex long-lived Hopf-linked and knotted configurations.
View Article and Find Full Text PDFJAMA Netw Open
January 2025
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.
Importance: Sensitivity to environmental stress and adversity may influence lung cancer risk, highlighting a critical link between psychosocial factors and cancer etiology.
Objective: To evaluate whether genetically estimated sensitivity to environmental stress and adversity is associated with lung cancer risk.
Design, Setting, And Participants: Data were obtained from a genome-wide association study identifying 37 independent genetic variants strongly associated with sensitivity to environmental stress and adversity and a cross-ancestry genome-wide meta-analysis from the International Lung Cancer Consortium.
J Vis Exp
January 2025
Institute of Biochemistry and Molecular Biology, Hengyang Medical School, University of South China; National Health Commission Key Laboratory of Birth Defect Research and Preventio, Hunan Provincial Maternal and Child Health Care Hospital;
Both DNA replication and RNA transcription utilize genomic DNA as their template, necessitating spatial and temporal separation of these processes. Conflicts between the replication and transcription machinery, termed transcription-replication conflicts (TRCs), pose a considerable risk to genome stability, a critical factor in cancer development. While several factors regulating these collisions have been identified, pinpointing primary causes remains difficult due to limited tools for direct visualization and clear interpretation.
View Article and Find Full Text PDFJ Vis Exp
January 2025
Barts Cancer Institute, Queen Mary University of London;
Erythropoiesis, a remarkably dynamic and efficient process responsible for generating the daily quota of red blood cells (approximately 280 ± 20 billion cells per day), is crucial for maintaining individual health. Any disruption in this pathway can have significant consequences, leading to health issues. According to the World Health Organization, an estimated 25% of the global population presents symptoms of anemia.
View Article and Find Full Text PDFHum Cell
January 2025
Department of Tumor Pathology, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji, Fukui, 910-1193, Japan.
Only a few human ovarian endometrioid carcinoma cell lines are currently available, partly due to the difficulty of establishing cell lines from low-grade cancers. Here, using a cell immortalization strategy consisting of i) inactivation of the p16-pRb pathway by constitutive expression of mutant cyclin-dependent kinase 4 (R24C) (CDK4) and cyclin D1, and ii) acquisition of telomerase reverse transcriptase (TERT) activity, we established a human ovarian endometrioid carcinoma cell line from a 46-year-old Japanese woman. That line, designated JFE-21, has proliferated continuously for over 6 months with a doubling time of ~ 55 h.
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