Implementation of Guidelines on Hereditary or Familial Colorectal Cancer
Ontology highlight
ABSTRACT:
DISEASE(S): Colorectal Neoplasms,Colorectal Neoplasms, Hereditary Nonpolyposis
PROVIDER: 2074375 | ecrin-mdr-crc |
REPOSITORIES: ECRIN MDR
Similar Datasets
Project description:The identification of the genetic risk factors in patients with isolated cleft palate by whole genome sequencing analysis. Pathogenic or likely pathogenic variants were discovered in genes associated with CP (TBX22, COL2A1, FBN1, PCGF2, and KMT2D) in five patients; hence, rare disease variants were identified in 17% of patients with non-syndromic isolated CP. Our results are relevant to routine genetic counselling practice and genetic testing recommendations.
2022-03-30 | E-MTAB-11360 | biostudies-arrayexpress
Project description:This study evaluates if uptake of genetic counselling in high-risk families is increased when patients at cancer genetics clinics are being offered healthcare-assisted disclosure to at-risk relatives compared to current standard care (with family-mediated disclosure).
Patients/families who have undergone a cancer genetic investigation will be invited to participate in the study. All participants will receive standard care. Half of them will in addition be offered a healthcare-assisted disclosure with the service of direct letters to identified at-risk relatives distributed by the healthcare provider. After a year we will compare the proportion of at-risk relatives who have contacted a cancer genetic clinics in each study arm.
| 2324598 | ecrin-mdr-crc
Project description:Interventions: Individual who are the first in their family to undertake mutation detection for a pathogenic mutation in either breast, ovarian or colorectal cancer and test positive are designated the proband. Probands are randomised to inform first and second degree relatives of their potential risk via either an active or passive method of disclosure. On the active disclosure arm, probands are encouraged to communicate directly with their relatives to inform them of their potential risk. In addition a Risk Notification Letter will be sent by the Familial Cancer Centre (FCC) to at risk relatives (ARR) informing them of the same. Probands randomised to the passive arm will be encouraged to inform their relatives of their potential risk but the FCC will not make contact with ARRs. Expected duration of recruitment and data capture phase of trial is 24 months.
Primary outcome(s): The number of at-risk relatives who contact the FCC for further information[One year after randomisation]
Study Design: Purpose: Educational / counselling / training; Allocation: Randomised controlled trial; Masking: Open (masking not used);Assignment: Parallel;Type of endpoint: Safety/efficacy
| 2453394 | ecrin-mdr-crc
Project description:Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is largely caused by inactivating germline mutations in the tumour suppressor gene CDH1, although pathogenic variants in CTNNA1 occur in a minority of families with HDGC. In this Policy Review, we present updated clinical practice guidelines for HDGC from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in gastric cancer risk between families with HDGC, the growing capability of endoscopic and histological surveillance in HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients. To redress the balance between the accessibility, cost, and acceptance of genetic testing and the increased identification of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly through less restrictive age limits. Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, there is increasing confidence from the IGCLC that endoscopic surveillance in expert centres can be safely offered to patients who wish to postpone surgery, or to those whose risk of developing gastric cancer is not well defined.
| S-EPMC7116190 | biostudies-literature
Project description:Open peer review (OPR) is moving into the mainstream, but it is often poorly understood and surveys of researcher attitudes show important barriers to implementation. As more journals move to implement and experiment with the myriad of innovations covered by this term, there is a clear need for best practice guidelines to guide implementation. This brief article aims to address this knowledge gap, reporting work based on an interactive stakeholder workshop to create best-practice guidelines for editors and journals who wish to transition to OPR. Although the advice is aimed mainly at editors and publishers of scientific journals, since this is the area in which OPR is at its most mature, many of the principles may also be applicable for the implementation of OPR in other areas (e.g., books, conference submissions).
| S-EPMC6394088 | biostudies-literature
Project description:Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing. Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.
| S-EPMC3500529 | biostudies-literature
Project description:In synchrony with deciphering the transcriptomic basis of pod borer resistance in C. platycarpus, the aim of the present work was to corroborate and understand how the leaf proteome in these two contrasting cajanus species explain the differential responses to herbivory. To the best of our knowledge this is the first investigative analysis applying proteomics to understand plant herbivore interactions in cajanus species. The study is one of the best approaches to assess cellular alterations from a multi-level perception and to enhance our understanding of resistance traits in the wild relatives.
2020-07-27 | PXD017679 | Pride
Project description:The implementation of high-quality guidelines is essential to improve clinical practice and public health. The World Health Organisation (WHO) develops evidence-based public health and other guidelines that are used or adapted by countries around the world. Detailed implementation plans are often necessary for local policymakers to properly use the guidelines developed by WHO. This paper describes the plans for guideline implementation reported in WHO guidelines and indicates which of these plans are evidence-based.We conducted a content analysis of the implementation sections of WHO guidelines approved by the WHO guideline review committee between December 2007 and May 2015. The implementation techniques reported in each guideline were coded according to the Cochrane Collaboration's Effective Practice and Organisation of Care (EPOC) taxonomy and classified as passive, active or policy strategies. The frequencies of implementation techniques are reported.The WHO guidelines (n = 123) analysed mentioned implementation techniques 800 times, although most mentioned implementation techniques very briefly, if at all. Passive strategies (21 %, 167/800) and general policy strategies (62 %, 496/800) occurred most often. Evidence-based active implementation methods were generally neglected with no guideline mentioning reminders (computerised or paper) and only one mentioning a multifaceted approach. Many guidelines contained implementation sections that were identical to those used in older guidelines produced by the same WHO technical unit.The prevalence of passive and policy-based implementation techniques as opposed to evidence-based active techniques suggests that WHO guidelines should contain stronger guidance for implementation. This could include structured and increased detail on implementation considerations, accompanying or linked documents that provide information on what is needed to contextualise or adapt a guideline and specific options from among evidence-based implementation strategies.
| S-EPMC4875699 | biostudies-other
Project description:The clinical management of well-appearing febrile infants 7-60 days of age remains variable due in part to multiple criteria differentiating the risk of a serious bacterial infection. The purpose of this quality improvement study was to standardize risk stratification in the emergency department and length of stay in the inpatient unit by implementing an evidence-based clinical practice guideline (CPG). Methods:The Model for Improvement was used to implement a CPG for the management of well-appearing febrile infants, with collaboration between pediatric emergency medicine and pediatric hospital medicine physicians. Interventions included physician education, process audit/feedback, and development of an electronic orderset. We used statistical process control charts to assess the primary aims of appropriate risk stratification and length of stay. Results:Over a 34-month period, 168 unique encounters (baseline n = 65, intervention n = 103) were included. There was strong adherence for appropriate risk stratification in both periods: the proportion of low-risk patients admitted inappropriately decreased from 14.8% to 10.8%. Among admitted high-risk patients, the mean length of stay decreased from 49.4 to 38.2 hours, sustained for 18 months. Conclusion:CPG implementation using quality improvement methodology can increase the delivery of evidence-based care for febrile infants, leading to a reduction in length of stay for high-risk infants.
| S-EPMC7056289 | biostudies-literature
Project description:Hereditary Polyposis Syndromes are a group of rare, inherited syndromes characterized by the presence of histopathologically specific or numerous intestinal polyps and an increased risk of cancer. Some polyposis syndromes have been known for decades, but the development in genetic technologies has allowed the identification of new syndromes.. The diagnosis entails surveillance from an early age, but universal guideline on how to manage and surveille these new syndromes are lacking. This paper represents a condensed version of the recent guideline (2020) from a working group appointed by the Danish Society of Medical Genetics and the Danish Society of Surgery on recommendations for the surveillance of patients with hereditary polyposis syndromes, including rare polyposis syndromes.
| S-EPMC8499431 | biostudies-literature