scholarly journals Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome

2014 ◽  
Vol 87 (6) ◽  
pp. 525-532 ◽  
Author(s):  
M.J. Esplen ◽  
J. Wong ◽  
M. Aronson ◽  
K. Butler ◽  
H. Rothenmund ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Genetic Test ◽  
Behavioral Adjustment ◽  
Test Results ◽  
Genetic Test Results

Parents' long-term adjustment to the genetic test results of minors at risk for Long QT Syndrome

2004 ◽  
Author(s):  
K. S. W. H. Hendriks ◽  
F. J. M. Grosfeld ◽  
A. A. M. Wilde ◽  
J. van den Bout ◽  
I. M. van Langen ◽  
...  
Keyword(s):  
At Risk ◽  
Long Qt Syndrome ◽  
Genetic Test ◽  
Test Results ◽  
Long Qt ◽  
Genetic Test Results ◽  
Qt Syndrome

scholarly journals Sharing Genetic Test Results in Lynch Syndrome: Communication With Close and Distant Relatives

2008 ◽  
Vol 6 (3) ◽  
pp. 333-338 ◽  
Author(s):  
Elena M. Stoffel ◽  
Beth Ford ◽  
Rowena C. Mercado ◽  
Darashana Punglia ◽  
Wendy Kohlmann ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Genetic Test ◽  
Test Results ◽  
Genetic Test Results

scholarly journals Long-Term Reactions to Genetic Testing for BRCA1 and BRCA2 Mutations: Does Time Heal Women's Concerns?

2011 ◽  
Vol 29 (32) ◽  
pp. 4302-4306 ◽  
Author(s):  
Chanita Hughes Halbert ◽  
Jill E. Stopfer ◽  
Jasmine McDonald ◽  
Benita Weathers ◽  
Aliya Collier ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cancer Screening ◽  
Odds Ratio ◽  
Adverse Reactions ◽  
Genetic Test ◽  
Ca 125 ◽  
Test Results ◽  
Brca1 And Brca2 ◽  
Genetic Test Results

Purpose Short-term reactions to BRCA1 and BRCA2 (BRCA1/2) genetic test results have been described in several reports, but the long-terms effects of testing have not been examined extensively. Methods We conducted an observational study to characterize the long-term impact of genetic testing for BRCA1/2 mutations in 167 women who had received genetic test results at least 4 years ago. We also evaluated the relationship between genetic testing–specific reactions and breast and ovarian cancer screening to determine the behavioral significance of adverse reactions. Results Seventy-four percent of women were not experiencing any distress regarding their test result, 41% were not experiencing any uncertainty, and 51% had a score for positive experiences that was suggestive of low levels of adverse reactions in terms of family support and communication. Mutation carriers (odds ratio, 3.96; 95% CI, 1.44 to 10.89; P = .01) were most likely to experience distress. Only less time since disclosure was related significantly to experiencing uncertainty (odds ratio, 0.62; 95% CI, 0.44 to 0.88; P = .008). In terms of cancer screening, 81% of women had a mammogram during the year before study enrollment, 25% had magnetic resonance imaging (MRI), 20% had a transvaginal ultrasound, and 20% had a CA-125. Experiencing distress was associated significantly with having a CA-125 (χ2 = 3.89, P = .05), and uncertainty was associated with having an MRI (χ2 = 8.90, P = .003). Conclusion Our findings show that women are not likely to experience genetic testing concerns several years after receiving BRCA1/2 test results; distress and uncertainty are not likely to have adverse effects on screening among women at risk for hereditary disease.

scholarly journals Real-world health services utilisation and outcomes afterBRCA1andBRCA2testing in Ontario, Canada: the What Comes Next Cohort Study protocol

BMJ Open ◽  
2018 ◽  
Vol 8 (9) ◽  
pp. e025317 ◽  
Author(s):  
Fahima Dossa ◽  
Maria C Cusimano ◽  
Rinku Sutradhar ◽  
Kelly Metcalfe ◽  
Tari Little ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Risk Reduction ◽  
Study Protocol ◽  
Genetic Test ◽  
World Health ◽  
Test Results ◽  
Genetic Test Results ◽  
Reduction Strategies ◽  
Risk Reduction Strategies

IntroductionWomen who have pathogenic mutations in theBRCA1andBRCA2genes are at greatly increased risks for breast and ovarian cancers. Although risk-reduction strategies can be undertaken by these women, knowledge regarding the uptake of these strategies is limited. Additionally, the healthcare behaviours of women who receive inconclusive test results are not known. This study protocol describes the creation of a retrospective cohort of women who have undergone genetic testing forBRCA1andBRCA2, linking genetic test results with administrative data to quantify the uptake of risk-reduction strategies and to assess long-term cancer and non-cancer outcomes after genetic testing.Methods and analysisApproximately two-thirds ofBRCA1andBRCA2testing in Ontario, Canada is performed at North York General Hospital (NYGH) and Mount Sinai Hospital (MSH), Toronto. We will use registries at these sites to assemble a cohort of approximately 17 000 adult women who underwentBRCA1andBRCA2testing from January 2007 to April 2016. Trained chart abstractors will obtain detailed information for all women tested over this period, including demographics, personal and family cancer histories and genetic test results. We will link these data to provincial administrative databases, enabling assessment of healthcare utilisation and long-term outcomes after testing. Study outcomes will include the uptake of breast cancer screening and prophylactic breast and ovarian surgery, cancer incidence and mortality and incidence of non-cancer health outcomes, including cardiovascular, osteoporotic and neurodegenerative disease.Ethics and disseminationThis study has been approved by the Research Ethics Boards at NYGH (no 16-0035), MSH (no 13-0124) and Sunnybrook Health Sciences Centre (no 275-2016). We plan to disseminate research findings through peer-reviewed publications and presentations at national and international meetings.

scholarly journals Colorectal Cancer Risk Perception on the Basis of Genetic Test Results in Individuals at Risk for Lynch Syndrome

2009 ◽  
Vol 27 (24) ◽  
pp. 3981-3986 ◽  
Author(s):  
Shilpa Grover ◽  
Elena M. Stoffel ◽  
Rowena C. Mercado ◽  
Beth M. Ford ◽  
Wendy K. Kohlman ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Risk Perception ◽  
Cancer Risk ◽  
Lynch Syndrome ◽  
Genetic Test ◽  
Genetic Test Result ◽  
Test Results ◽  
Genetic Test Results ◽  
Test Result

Purpose Lynch syndrome is associated with inherited germline mutations in mismatch repair (MMR) genes. Genetic testing in high-risk individuals may yield indeterminate results if no mutation is found or if a mutation of unclear pathogenic significance is observed. There are limited data regarding how well patients with Lynch syndrome understand the clinical implications of genetic test results. This study examines colorectal cancer (CRC) risk perception in individuals tested for MMR mutations and identifies the factors associated with an appropriate interpretation of their cancer risk. Patients and Methods A total of 159 individuals who met the Revised Bethesda Guidelines and had previously undergone genetic testing completed a questionnaire eliciting demographic data, cancer history, genetic test results, and an estimate of their CRC risk. Associations between clinical factors, genetic test results, and CRC risk perception were explored using multivariable analyses. Results Of the 100 individuals with a pathogenic mutation (true positive), 90 (90%) correctly estimated their CRC risk as “high” or “very high” compared with other individuals their age. However, only 23 (62%) of 37 individuals with an indeterminate genetic test result correctly estimated their risk. Individuals with a history of Lynch syndrome–associated cancer (odds ratio [OR], 0.1; 95% CI, 0.1 to 0.6) or indeterminate genetic test results (OR, 0.2; 95% CI, 0.1 to 0.6) were significantly less likely to estimate their CRC risk as increased. Conclusion Patients at risk for Lynch syndrome with an indeterminate genetic test result may be falsely reassured. It is important that health care providers continue to discuss the implications of uninformative results on lifetime cancer risk.

scholarly journals “Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Nicole den Elzen ◽  
Sharelle L. Joseland ◽  
Sibel Saya ◽  
Sowmya Jonnagadla ◽  
Joanne Isbister ◽  
...  
Keyword(s):  
Risk Management ◽  
Cancer Risk ◽  
Lynch Syndrome ◽  
Genetic Test ◽  
Cancer Genetics ◽  
Test Results ◽  
Genetic Test Results ◽  
Genetics Services ◽  
Management Advice ◽  
Cancer Risk Management

Abstract Background A diagnosis of suspected Lynch syndrome (SLS) is given when a tumour displays characteristics consistent with Lynch syndrome (LS), but no germline pathogenic variant is identified. This inconclusive diagnosis results in uncertainty around appropriate cancer risk management. This qualitative study explored how patients with CRC interpret and respond to an SLS diagnosis. Methods Semi-structured telephone interviews were conducted with 15 patients with CRC who received an SLS diagnosis, recruited from cancer genetics services across Australia. Interviews were transcribed verbatim and analysed using thematic analysis. Participant responses were compared with appointment summary letters from cancer genetics services. Results Participants’ interpretations of genetic test results were found to vary widely. While this variation often aligned with variation in interpretations by cancer genetics services, participants also had difficulties with the complexity and recall of genetic test results. Participants had a range of psychological responses to the uncertainty that their results presented, from relief to disappointment and doubt. Cancer risk perceptions also varied widely, with participants’ interpretations of their genetic test results just one of several influencing factors. Despite this variability, almost all participants adhered to cancer risk management advice, although different participants received different advice. All participants also communicated any cancer risk management advice to first-degree relatives, motivated by protecting them, but information communicated was not always consistent with advice received. Conclusions Our study findings highlight the variability in patients’ interpretations of their diagnosis, cancer risk management and family communication when a diagnosis of SLS is received, and provide novel insights into how healthcare professionals can better support patients with SLS.

Metagnosis

2020 ◽  
Author(s):  
Danielle Spencer
Keyword(s):  
Real World ◽  
Genetic Test ◽  
Narrative Medicine ◽  
Test Results ◽  
Diagnostic Categories ◽  
Genomic Knowledge ◽  
Blade Runner ◽  
Genetic Test Results ◽  
Scant Attention ◽  
Productive Model

This book identifies and names the phenomenon of metagnosis: the experience of newly learning in adulthood of a long-standing condition. It can occur when the condition has remained undetected (e.g., colorblindness) and/or when the diagnostic categories themselves have shifted (e.g., ADHD). More broadly, it can occur with unexpected revelations bearing upon selfhood, such as surprising genetic test results. This phenomenon has received relatively scant attention, yet learning of an unknown condition is frequently a significant and bewildering revelation, subverting narrative expectations and customary categories. In addressing the topic this book deploys an evolution of narrative medicine as a robust research methodology comprising interdisciplinarity, narrative attentiveness, and creating a writerly text. Beginning with the author’s own experience of metagnosis, it explores the issues it raises—from communicability to narrative intelligibility to different ways of seeing. Next, it traces the distinctive metagnostic narrative arc through the stages of recognition, subversion, and renegotiation, discussing this trajectory in light of a range of metagnostic experiences, from Blade Runner to real-world midlife diagnoses. Finally, it situates metagnosis in relation to genetic revelations and the broader discourses concerning identity. Proposing that the figure of blindsight—drawn from the author’s metagnostic experience—offers a productive model for negotiating such revelations, the book suggests that better understanding metagnosis will not simply aid those directly affected but will also serve as a bellwether for how we will all navigate advancing biomedical and genomic knowledge, and how we may fruitfully interrogate the very notion of identity.

scholarly journals Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

2007 ◽  
Vol 9 (1) ◽  
pp. 95-98 ◽  
Author(s):  
Matthew J. McGinniss ◽  
Rebecca Chen ◽  
Victoria M. Pratt ◽  
Arlene Buller ◽  
Franklin Quan ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Test Results ◽  
Web Based ◽  
Genetic Test Results ◽  
Query Tool ◽  
Molecular Genetic Test
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