Randomized trial of a decision aid for individuals considering genetic testing for hereditary colorectal cancer risk
Ontology highlight
ABSTRACT:
DISEASE(S): Colorectal Cancer
PROVIDER: 2716370 | ecrin-mdr-crc |
REPOSITORIES: ECRIN MDR
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Project description:Interventions: The study aims to compare the efficacy of an educational pamphlet currently used in the clinical setting to that of the decision aids using two randomised controlled trials. The decision aids will be tested with two different samples: 120 individuals at high risk for HNPCC and 120 members of high-risk breast cancer families who approach one of six familial cancer clinics who have agreed to participate in this study (the familial cancer clinics in NSW: at Prince of Wales, Westmead, St Vincents Hospitals and Hunter Genetics, Newcastle, and in Victoria: at Royal Melbourne Hospital, and the Peter McCallum Cancer Institute). Participants will complete a questionnaire after they have read the decision aid or pamphlet, followed by a second questionnaire after 6 months.
Primary outcome(s): The primary outcome for the study is decisional conflict (measured by the Decisional Conflict Scale). This scale measures uncertainty about choosing among alternatives; modifiable factors contributing to uncertainty, such as being uninformed and unclear about values and feeling unsupported in decision-making, and perceptions of effectiveness of decision-making[Assessed immediately after reading the information materials provided, and in the 6-month follow up questionnaire.]
Study Design: Purpose: Educational / counselling / training; Allocation: Randomised controlled trial; Masking: Blinded (masking used);Assignment: Parallel;Type of endpoint: Efficacy
| 2452387 | ecrin-mdr-crc
Project description:Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with constitutional mutations in a class of genes involved in DNA mismatch repair. We identified 32 kindreds, with germline mutations in one of three genes hMSH2, hMLH1 or hMSH6. In this study, we purposed to evaluate how many high-risk individuals in each family underwent genetic testing: moreover, we assessed how many mutation-positive unaffected individuals accepted colonoscopic surveillance and the main findings of the recommended follow-up. Families were identified through a population-based registry, or referred from other centres. Members of the families were invited for an education session with two members of the staff. When a kindred was consistent with HNPCC, neoplastic tissues were examined for microsatellite instability (MSI) and immunohistochemical expression of MSH2, MLH1 and MSH6 proteins. Moreover, constitutional mutations were searched by SSCP or direct sequencing of the whole genomic region. Of the 164 subjects assessed by genetic testing, 89 were gene carriers (66 affected - that is, with HNPCC-related cancer diagnosis - and 23 unaffected) and 75 tested negative. Among the 23 unaffected gene carriers, 18 (78.3%) underwent colonoscopy and four declined. On a total of 292 first degree at risk of cancer, 194 (66.4%) did not undergo genetic testing. The main reasons for this were: (a) difficulty to reach family members at risk, (b) lack of collaboration, (c) lack of interest in preventive medicine or 'fatalistic' attitude towards cancer occurrence. The number of colorectal lesions detected at endoscopy in gene carriers was significantly (P<0.01) higher than in controls (noncarriers). We conclude that a large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing, despite the benefits of molecular screening and endoscopic surveillance. This clearly indicates that there are still barriers to genetic testing in HNPCC, and that we are unable to provide adequate protection against cancer development in these families.
| S-EPMC2410159 | biostudies-other
Project description:The purpose of this study is to evaluate a decision aid (written information booklet designed to facilitate informed decision making) to help people aged 55-64 years, with low levels of education and literacy, make an informed choice about bowel cancer screening, using faecal occult blood testing.
| 2062056 | ecrin-mdr-crc
Project description:Physicians face a challenge in promoting colorectal cancer screening (CRCS) in the face of multiple competing demands. A decision aid (DA) that clarifies patient preferences and improves decision quality could aid shared decision making (SDM) and be effective at increasing CRCS rates. However, exactly how such DA improves SDM is not clear. This 4-year R01 study funded by the National Cancer Institute seeks to provide detailed understanding of how an interactive DA affects patient-physician communication and SDM, and ultimately CRCS adherence.
| 2118961 | ecrin-mdr-crc
Project description:SNP analysis AID-low vs AID-high
2009-07-20 | GSE13612 | GEO
Project description:Affymetrix gene expression AID-GFP-positive vs AID-GFP-negative Experiment Overall Design: Affymetrix gene expression AID-GFP-positive vs AID-GFP-negative
2009-08-22 | E-GEOD-13611 | biostudies-arrayexpress
Project description:Affymetrix gene expression AID-GFP-positive vs AID-GFP-negative
2009-08-15 | GSE13611 | GEO
Project description:Purpose of reviewThese recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene.Recent findingsThe effectiveness of current treatment options is still limited in patients with TTR-FAP beyond stage I. Diagnosis in the early stages of TTR-FAP is essential to prevent or delay the progression of disease. Existing legal and cultural issues differ among countries within Europe. Experts of the European Network for TTR-FAP (ATTReuNET) concluded that genetic counselling for diagnosed individuals and at-risk family members is mostly beneficial and should be carried out with care by trained professionals. Systematic and regular monitoring of an asymptomatic carrier is necessary to detect early signs of TTR-FAP and maximize the effectiveness of treatment. This includes five areas of assessment: history/clinical examination, sensorimotor function, autonomic dysfunction, cardiac function, and renal function. At least two related symptoms and positive biopsy findings are required to confirm diagnosis of TTR-FAP.SummaryEarly detection of TTR-FAP is essential to improve the prognosis of TTR-FAP. ATTReuNET recommends genetic counselling and routine monitoring for asymptomatic carriers of TTR-FAP.
| S-EPMC4739313 | biostudies-literature
Project description:This article focuses on genetic testing for hereditary colorectal cancer syndromes. Genetic testing is now available in North America for all of the known hereditary colorectal cancer genes. In addition, most of these tests have improved significantly in the past few years with the inclusion of techniques to detect large rearrangements. As a result, clinicians are in a better position than ever to help families with these syndromes to identify the underlying genetic cause. This identification will ensure that they receive appropriate management, and will enable their relatives to determine their precise risks and to tailor their cancer surveillance.
| S-EPMC2821160 | biostudies-literature
Project description:Activation-Induced Cytidine Deaminase (AID) is required for somatic hypermutation and immunoglobulin (Ig) class switch recombination in germinal center B lymphocytes. Occasionally, AID targets non-Ig genes, thereby contributing to B cell lymphomagenesis. We recently reported aberrant expression of AID in BCR-ABL1-driven acute lymphoblastic leukemia (ALL). To elucidate the biological significance of aberrant AID expression, we studied loss of AID function in a murine model of BCR-ABL1 ALL. Mice transplanted with BCR-ABL1-transduced AID-/- bone marrow had prolonged survival as compared to mice transplanted with leukemia cells generated from AID+/+ bone marrow. Consistent with a causative role of AID in genetic instability, AID-/- leukemia had a decreased frequency of amplifications, deletions and a lower frequency of mutations in non-Ig genes including Pax5 and Rhoh as compared to AID+/+ leukemias. AID-/- and AID+/+ ALL cells showed a markedly distinct gene expression pattern as determined by principle component analysis, with 2,365 genes differentially expressed. In contrast to AID+/+ leukemia, AID-/- ALL cells failed to downregulate a number of tumor suppressor genes such as Rhoh, Cdkn1a (p21), and Blnk (SLP65). We conclude that AID accelerates clonal evolution in BCR-ABL1 ALL by enhancing genetic instability, aberrant somatic hypermutation, and by transcriptional inactivation of tumor suppressor genes. Experiment Overall Design: We used microarrays to detect differences in gene expression profiles between AID expressing leukemia and AID deficient leukemia
2009-07-05 | E-GEOD-16751 | biostudies-arrayexpress