scholarly journals An E-Learning Module to Improve Nongenetic Health Professionals� Assessment of Colorectal Cancer Genetic Risk: Feasibility Study (Preprint)

2016 ◽  
Author(s):  
Kirsten Freya Lea Douma ◽  
Cora M Aalfs ◽  
Evelien Dekker ◽  
Pieter J Tanis ◽  
Ellen M Smets

BACKGROUND Nongenetic health providers may lack the relevant knowledge, experience, and communication skills to adequately detect familial colorectal cancer (CRC), despite a positive attitude toward the assessment of history of cancer in a family. Specific training may enable them to more optimally refer patients to genetic counseling. OBJECTIVE The aim of this study was to develop an e-learning module for gastroenterologists and surgeons (in training) aimed at improving attitudes, knowledge, and comprehension of communication skills, and to assess the feasibility of the e-learning module for continued medical education of these specialists. METHODS A focus group helped to inform the development of a training framework. The e-learning module was then developed, followed by a feasibility test among a group of surgeons-in-training (3rd- and 4th-year residents) and then among gastroenterologists, using pre- and posttest questionnaires. RESULTS A total of 124 surgeons-in-training and 14 gastroenterologists participated. The e-learning was positively received (7.5 on a scale of 1 to 10). Between pre- and posttest, attitude increased significantly on 6 out of the 10 items. Mean test score showed that knowledge and comprehension of communication skills improved significantly from 49% to 72% correct at pretest to 67% to 87% correct at posttest. CONCLUSIONS This study shows the feasibility of a problem-based e-learning module to help surgeons-in-training and gastroenterologists in recognizing a hereditary predisposition in patients with CRC. The e-learning led to improvements in attitude toward the assessment of cancer family history, knowledge on criteria for referral to genetic counseling for CRC, and comprehension of communication skills.

2015 ◽  
Vol 33 (31) ◽  
pp. 3544-3549 ◽  
Author(s):  
Maureen E. Mork ◽  
Y. Nancy You ◽  
Jun Ying ◽  
Sarah A. Bannon ◽  
Patrick M. Lynch ◽  
...  

Purpose Established guidelines recommend evaluation for hereditary cancer syndromes in patients younger than 50 years diagnosed with colorectal cancer (CRC). This group has been well described in the literature; however, patients diagnosed as adolescents and young adults are not well represented in CRC studies. Here, we define the clinical profile, including the extent of hereditary cancer syndromes and family history of cancer, in patients diagnosed with CRC at age 35 or younger. Patients and Methods We reviewed patients who underwent genetic counseling at our institution during 5 years (2009 to 2013). Data were collected regarding demographics, clinicopathologic information, tumor and genetic testing, and family history. Patients with an identified hereditary cancer syndrome were compared with those without a syndrome. Results Of the 193 patients with evaluable data, 35% had an identifiable hereditary cancer syndrome, including 23 with Lynch syndrome, 22 with mutation-negative Lynch syndrome, 16 with familial adenomatous polyposis, two with constitutional mismatch repair deficiency, two with biallelic MUTYH mutations, and one with Li-Fraumeni syndrome. Patients without a hereditary syndrome more frequently presented with metastatic disease, whereas patients with a syndrome were more likely to present at earlier stages and to have a family history of cancer. Nevertheless, a substantial proportion of the hereditary syndromes (19%) were diagnosed in individuals with no family history of the disease. Conclusion We conclude that patients diagnosed with CRC at age 35 years or younger should receive genetic counseling regardless of their family history and phenotype.


BMC Cancer ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Andrada Ciucă ◽  
Ramona Moldovan ◽  
Adriana Băban

Abstract Background Approximately 5% of colorectal cancer (CRC) cases are part of a well-defined inherited genetic syndrome and up to approximately 30% of these cases have a clinically defined familial basis. Psychosocial interventions in familial colorectal cancer address aspects mainly focused on affective, cognitive and behavioural outcomes. The present review aims to systematically map out the available psychosocial interventions for individuals with a family history of CRC and describe the current state of the research. Methods An extensive electronic search was conducted to investigate the literature published until June 2020. Inclusion criteria consisted of quantitative studies published in English that explored the impact of psychosocial interventions for familial CRC, clearly defined the psychosocial intervention offered and included participants with a family history of CRC. Results The analysis included 52 articles. Genetic counselling, educational interventions, psychological interventions and multimodal interventions were identified across the studies. In terms of diagnoses, Lynch Syndrome, Familial Adenomatous Polyposis, Familial Colorectal Cancer were the main conditions included in the studies. Affective, cognitive, behavioural aspects and quality of life emerged as the most frequently explored outcomes. The studies included individuals with both personal and familial history of CRC or family history alone. Conclusions Our rapid review provides an overview of the literature exploring the impact of psychosocial interventions for familial CRC. The psychosocial interventions identified had an overwhelmingly positive impact across all types of outcomes measured. Genetic counselling appeared to be most beneficial, and this is expected as it is purposively designed to address genetic conditions. Further quantitative analysis of primary empirical research is needed to determine the efficacy and effectiveness of psychosocial interventions as well as the mechanisms through which they exert their effect.


2017 ◽  
Vol 3 (2) ◽  
pp. e24 ◽  
Author(s):  
Kirsten Freya Lea Douma ◽  
Cora M Aalfs ◽  
Evelien Dekker ◽  
Pieter J Tanis ◽  
Ellen M Smets

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10563-10563
Author(s):  
Iosune Baraibar ◽  
Francesc Salva ◽  
Raquel Comas ◽  
Javier Ros ◽  
Ariadna Garcia ◽  
...  

10563 Background: Young-onset colorectal cancer (YOCR) is defined as diagnosis below the age of 50. Over the past decades, the incidence of YOCRC has increased at an alarming rate, but causes and pathogenesis still remain unknown. Early detection of colorectal cancer (CRC) has demonstrated to improve survival. Despite these facts, adults < 50 years old are not yet included in screening programs and YOCRC is not well characterized. We aimed to characterize the clinical and molecular characteristics of YOCRC in patients (pts) diagnosed at our institution. Methods: Consecutive pts with a diagnosis of CRC below the age of 50 visited for the first time at Vall d’Hebron University Hospital in Spain between January 2017 and October 2020 were included in the analysis. Data of clinicopathologic features and treatment were collected retrospectively from medical records. Results: 205 pts met the inclusion criteria, 111 (54%) were females, 8 (4%) presented a personal history of cancer at diagnosis and 109 (53%) a family history of cancer. Age at diagnosis was: < 30: 10 (5%), {30 – 40): 52 (25%), {40-45): 51 (25%), {45-50): 92 (45%). Site of primary tumor was: right colon: 50 (24%), left colon: 107 (52%): rectum: 48 (24%). Stage at diagnosis was I: 3 (1%), II: 14 (7%), III: 60 (29%), IV: 128 (63%). 6 of 14 (43%) and 44 of 60 patients (73%) with stage II and III CRC presented disease progression after initial treatment, respectively. Molecular status was: KRAS mutation: 74 (36%), NRAS mutation: 7 (3%), BRAF mutation: 12 (6%), MSI-H: 12 (6%). 43 pts (21%) had documentation of genetic counseling. Median (range) number of lines of treatment for metastatic disease was 3 (1-7), 53 pts (30%) received at least 4 lines of treatment. Median (range) number of metastatic sites was: 2 (1-6). 114 patients (55.6%) had died at the cut-off timepoint. Conclusions: YOCR is usually diagnosed with a more advanced stage than standard-onset CRC, with a poorer course of the disease. Further studies in young adults with CRC should address this phenomenon to understand the underlying causes, and prioritize genetic counseling. Our results support the unmet need of initiating screening programs in adults younger than 50 years, the urgency for a global consensus and a call for action.


2021 ◽  
Author(s):  
Amélie Aïm-Eusébi ◽  
Antoinette Bouziane ◽  
Karima Sekri ◽  
Bernard Clary ◽  
Bernard Freche ◽  
...  

Abstract BACKGROUND: Colorectal cancer (CRC) is the third most common cancer in men and the second in women worldwide. During the period 2017-2018, in France, 32.1% of the eligible population completed screening, which is under the acceptable uptake rate. The FORCEPS study aimed to test whether a training program focused on improving general practitioners’ (GPs’) communication skills could increase their patients’ CRC screening rate. Our study reports on the construction of, participation in and evaluation of the e-learning training program tested in the FORCEPS study.METHODS: An interdisciplinary team designed an e-learning program for French GPs on the Moodle® platform. Learning activities related to the stated learning objectives and interactive approaches were specified. Two sessions took place, in May and November 2018. The training lasted 6 weeks. RESULTS: In all, 116 GPs registered for the training program. Seventy per cent of the GPs who registered for the first session opted to follow the training via e-learning rather than in person. Among the participants, 36.0% followed the training in its entirety during session 1, as did 24.0% during session 2. At the end of the training, none of the participating GPs self-assessed themselves as a “novice”, and the number of GPs self-assessing as “intermediate” or “experienced” increased. Overall, 62.9% of the participants were generally satisfied with the e-learning course.CONCLUSIONS: The web-based program focused on improving GPs’ communication skills to encourage CRC screening was chosen by a large majority of the participating GPs and received positive reviews. While GPs’ theoretical knowledge can be improved through our training program, it remains to be seen whether or not this will be reflected in their everyday practice, thus resulting in an increased CRC screening participation rate among patients.


2015 ◽  
Vol 97 ◽  
Author(s):  
YAEL LAITMAN ◽  
EMMA JAEGER ◽  
LIOR KATZ ◽  
IAN TOMLINSON ◽  
EITAN FRIEDMAN

SummaryBackground: A 40 kb ancestral germline duplication upstream of the GREM1 gene was reported in Ashkenazi families with hereditary mixed polyposis syndrome (HMPS). Objective: Assess the contribution of the GREM1 mutation to familial colorectal cancer (CRC) in Ashkenazim. Methods: Jewish Ashkenazi individuals (n = 472 155 males, 317 females) were genotyped for the GREM1 duplication, 194 with CRC, 131 had other cancer types (endometrial, pancreatic and ovarian) that show a syndromic association with CRC, and 147 were cancer-free with a suggestive family history of CRC. Results: One mutation carrier was found who fulfills the Amsterdam criteria for Lynch Syndrome (LS). The prevalence of this mutation amongst LS Ashkenazim is 0·7%. Conclusion: If validated in additional studies it seems rational to recommend to look for the GREM1 founder mutation in Ashkenazi individuals with multiple colorectal polyps and/or fulfill the criteria for LS.


2015 ◽  
Vol 24 (2) ◽  
pp. 171-176 ◽  
Author(s):  
Elena Mirela Ionescu ◽  
Tudor Nicolaie ◽  
Serban Ion Gologan ◽  
Ana Mocanu ◽  
Cristina Ditescu ◽  
...  

Background & Aims: Even though Romania has one of the highest incidence and mortality in colorectal cancer (CRC) in Europe, there is currently no organized screening program. We aimed to assess the results of our opportunistic CRC screening using colonoscopy.Methods: A single center retrospective study to include all opportunistic screening colonoscopies performed in two 18 month periods (2007-2008 and 2012-2013) was designed. All asymptomatic individuals without a personal or family history of adenoma or CRC and with complete colonoscopy performed in these two time periods were included.Results: We included 1,807 individuals, 882 in the first period, 925 in the second period. There were 389 individuals aged below 50, 1,351 between 50 and 75 and 67 older than 75 years. There were 956 women (52.9%), with a mean age of 58.5 (median 59, range 23-97). The detection rates were 12.6% for adenomas (6.1% for advanced adenoma) and 3.4% for adenocarcinoma. Adenoma incidence (4.9% in subjects under 50, 14.7% in those aged 50 to 75, and 16.4% in those older than 75, p<0.0001) and size (6.3mm in subjects younger than 50, 9.2mm in those 50 to 75 and 10.8mm in those older than 75, p=0.015) significantly increased with age. Adenoma incidence increased in the second period (14.8% vs. 10.3%, p=0.005), while adenoma size decreased in the second period (8.4mm vs. 10mm, p=0.006). There were no procedure related complications.Conclusions: The neoplasia detection rate was 16% (12.6% adenoma, 3.4% adenocarcinoma). Adenoma incidence and size increased with age in both cohorts. In the second screening period significantly more and smaller adenomas were detected.


2021 ◽  
pp. 000313482110318
Author(s):  
Thomas K. Kleinschmidt ◽  
Austin Clements ◽  
Mark A. Parker ◽  
Steven D. Scarcliff

Objectives To review the effectiveness of noninvasive multitarget stool DNA testing as a screening test for colorectal cancer. Methods We performed a retrospective review of patients referred to 2 high volume outpatient procedural centers for colonoscopy for positive Cologuard test. Positive findings for colorectal cancer based on pathologic findings and also advanced adenomas were recorded. Positive predictive value (PPV) was assessed. Results Of the 1585 patients evaluated and referred for colonoscopy from January 1, 2018 to November 1, 2019, for ICD-10 codes R19.5 (other fecal abnormalities) and K92.1 (melena), 84 were referred for a positive Cologuard test. Out of the 84, 6 were excluded based on family history of colon cancer in first degree relative or personal history of inflammatory bowel disease. Of the remaining 78 patients, 1 patient (1.3%) had colorectal cancer and 5 (6.4%) had advanced adenomas (>1 cm size, high grade dysplasia or villous). Postive predictive value for colorectal cancer was 1.3% and for precancerous lesions plus colorectal cancer was 7.7%. A total of 53 (68.0%) patients had either totally normal colonoscopy or hyperplastic polyps. Out of the 78 individuals in our study, 70 (89.7%) had normal findings, hyperplastic polyps, or non-advanced adenomas. Conclusions Multitarget stool DNA testing carries an unacceptably low PPV to be utilized as a screening test for colorectal cancer. The study fails to detect both adenomas and colon cancer at a higher rate than screening colonoscopy in selected studies. The advantage of being noninvasive has been noted to increase colorectal cancer screening in otherwise non-compliant Medicare patients.


Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 631
Author(s):  
Karin Alvarez ◽  
Alessandra Cassana ◽  
Marjorie De La Fuente ◽  
Tamara Canales ◽  
Mario Abedrapo ◽  
...  

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.


2020 ◽  
Vol 9 (2) ◽  
pp. 92-99
Author(s):  
Sindhu A. Idicula ◽  
Amy Vyas ◽  
Nicole Garber

Background and Goals: Non-suicidal self-injury (NSSI) is a common presenting issue mental health providers experience in all levels of care from outpatient clinics to inpatient units. It is common among adolescents seen in emergency settings, either as a presenting problem or as a covert condition that may not be detected unless specifically assessed for. The presence of NSSI increases the risk of suicide. This article aims to help the clinician develop a better understanding of NSSI – what it may entail, the prevalence, and the motivations for why young people engage in it. Methods: We review the reasons adolescents injure themselves, the link between NSSI and psychiatric diagnoses and suicide, the assessment of NSSI, and treatment planning, with emphasis on ways to screen for NSSI and interventions that can be implemented in the Emergency Department. We illustrate the complexity of NSSI with the case of a young patient with a complex psychiatric history and an extensive history of self-injury. Results and Discussion: Despite the seeming intractability of NSSI, a number of evidencebased treatments exist. Treatment primarily involves specialized forms of psychotherapy, but interventions can be implemented in the ED that will reduce the immediate risk of NSSI while more definitive intervention is awaited. Conclusion: Mental health consultations in the ED should always include screening for NSSI. Mental health professionals in the ED can play an important role in the detection and treatment of this condition..


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