scholarly journals Universal tumor screening for lynch syndrome: perspectives of patients regarding willingness and informed consent

2020 ◽  
Vol 17 (5) ◽  
pp. 373-387
Author(s):  
Anusree Subramonian ◽  
Doug Smith ◽  
Elizabeth Dicks ◽  
Lesa Dawson ◽  
Mark Borgaonkar ◽  
...  

Aim: Lynch Syndrome is associated with a significant risk of colorectal carcinoma (CRC) and other cancers. Universal tumor screening is a strategy to identify high-risk individuals by testing all CRC tumors for molecular features suggestive of Lynch Syndrome. Patient interest in screening and preferences for consent have been underexplored. Methods: A postal survey was administered to CRC patients in a Canadian province. Results: Most patients (81.4%) were willing to have tumors tested if universal tumor screening were available and were willing to discuss test results with family members and healthcare professionals. The majority (62.6%) preferred informed consent be obtained prior to screening. Conclusion: Patients were supportive of universal screening. They expected consent to be obtained, contrary to current practice across Canada and elsewhere.

Author(s):  
Desirée Mena-Tudela ◽  
Susana Iglesias-Casás ◽  
Víctor Manuel González-Chordá ◽  
María Jesús Valero-Chillerón ◽  
Laura Andreu-Pejó ◽  
...  

Background: Obstetric violence is a worldwide public health problem, which seems greater in Spain. As no studies were found that identify the most representative healthcare professionals, times, and areas involved in obstetric violence, the objective of this work was to study at what time of maternity, with which professionals, and in what areas women identified obstetric violence. Methods: This descriptive, retrospective, and cross-sectional study was performed from January 2018 to June 2019. The main variables were the area (hospital, primary care, both), the time (pregnancy, birth, puerperium), and the professionals attending to women. Results: Our sample comprised 17,541 participants. The area identified with the most obstetric violence for the different studied variables was hospitals. Women identified more obstetric violence at time of birth. Findings such as lack of information and informed consent (74.2%), and criticism of infantile behavior and treatment (87.6%), stood out. The main identified healthcare professionals were midwives and gynecologists, and “other” professionals repeatedly appeared. Conclusions: Having identified the professionals, times, and areas of most obstetric violence in Spain, it seems necessary to reflect on not only the Spanish National Health System’s structure and management but also on healthcare professionals’ training.


2012 ◽  
Vol 20 (6) ◽  
pp. 672-683 ◽  
Author(s):  
Mei-Ling Lin ◽  
Chuen-Teng Huang ◽  
Hsien-Hsien Chiang ◽  
Ching-Huey Chen

The practice of respecting patients’ autonomy is rooted in the healthcare professionals’ empathy for patients’ situations, without which appropriate supports to the patients during the informed consent process may be remarkably moderated. The purpose of this study was to explore elective surgery patients’ experiences during their decision-making process. This research was conducted using a phenomenological approach, and the data analysis was guided by Colaizzi’s method. A total of 17 participants were recruited from a hospital in southern Taiwan. Two major themes emerged from the analyses: (a) a voluntary yet necessary alternative—to undergo a surgery and (b) alternatives compelled by the unalterable decision—the surgery. It was concluded that unless healthcare professionals can empathize with the distressed situation of their patients who are facing elective surgery, the practice of informed consent may become merely a routine. Nurses can be the best advocates for patients and facilitators to enhance communication between patients and healthcare personnel.


2019 ◽  
Vol 8 (8) ◽  
pp. 1149-1158 ◽  
Author(s):  
Jordyn Silverstein ◽  
Wesley Kidder ◽  
Susan Fisher ◽  
Thomas A Hope ◽  
Samantha Maisel ◽  
...  

Background Colorectal carcinoma (CRC) during the peri-partum period is challenging to diagnose due to the overlapping symptoms of CRC and pregnancy. This is the first case series to investigate clinicopathologic, hormonal and molecular features of CRC diagnosed during the peri-partum period. We hypothesized that advanced presentations of CRC could possibly be mitigated by pregnancy-related hormonal factors. Methods We conducted a retrospective review of five women diagnosed with CRC during the peri-partum period and studied the clinical and molecular features of their cancer. Results All patients presented with stage IV CRC at diagnosis; three had primary tumors in the rectum and two had primary tumors in the sigmoid colon. The liver was the most common metastatic site (three of five women). Immunohistochemistry stains were negative for estrogen receptors alpha (ERα) and beta (ERβ), and one tumor demonstrated low-level positivity for PR (1%). Formalin-fixed and paraffin-embedded (FFPE) biopsies from each case were tested with next-generation sequencing and found that all tumors were mismatch repair (MMR) proficient, and three harbored a KRAS mutation. Germline testing showed no predisposition to CRC; however, several somatic variants of undetermined significance (VUS) were identified. Discussion CRC in the peri-partum period poses significant risk factors for presentations with advanced disease due to diagnostic challenges. While our study provides no evidence that pathogenesis of CRC during pregnancy is driven by elevated estrogen and/or progesterone levels during pregnancy, additional putative etiologic factors, including placental growth factors, the immunosuppressive state of pregnancy and other physiologic processes during pregnancy, warrant future study.


2011 ◽  
Vol 24 (4) ◽  
pp. 470-476
Author(s):  
Vera I. Saburova

Aspects of the current practice of prenatal diagnostics in Russia are surveyed. In the light of this, various ethical concerns are highlighted: (1) the requirement of parental informed consent to testing is not always sufficiently respected either in state regulation or in the practice of physicians; (2) not all Russian physicians are aware of international guidelines or standards of good practice in areas such as non-directive counselling, patient confidentiality with respect to genetic information and the patient’s right to maintain control over his or her information; (3) abortion is viewed increasingly as an aspect of preventive medicine.


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