Mastering Familial Genetic Knowledge: Shared or Secret? Issues of Decision-Making in Predictive Genetic Testing

2012 ◽  
pp. 38-49
Author(s):  
Anne Brüninghaus ◽  
Rouven Porz
Keyword(s):  
Decision Making ◽  
Genetic Testing ◽  
Predictive Genetic Testing ◽  
Genetic Knowledge

scholarly journals The use of heuristics in genetic testing decision-making: A qualitative interview study

PLoS ONE ◽  
2021 ◽  
Vol 16 (11) ◽  
pp. e0260597
Author(s):  
Bettina Maria Zimmermann ◽  
David Martin Shaw ◽  
Bernice Elger ◽  
Insa Koné
Keyword(s):  
Decision Making ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Hereditary Cancer ◽  
Predictive Genetic Testing ◽  
Hereditary Cancer Syndrome ◽  
Theory Approach ◽  
Hereditary Cancer Syndromes ◽  
Qualitative Interview Study ◽  
Cancer Syndromes

Background Decision-making concerning predictive genetic testing for hereditary cancer syndromes is inherently complex. This study aims to investigate what kind of complexities adults undergoing genetic counseling in Switzerland experience, how they deal with them, and what heuristics they use during the decision-making process. Methods Semi-structured qualitative interviews with eighteen Swiss adults seeking genetic counseling for hereditary cancer syndrome genetic testing and two counseling physicians were conducted and analyzed using a grounded theory approach. Results Counselees stated that once they were aware of their eligibility for genetic testing they perceived an inevitable necessity to make a decision in a context of uncertainties. Some counselees perceived this decision as simple, others as very complex. High emotional involvement increased perceived complexity. We observed six heuristics that counselees used to facilitate their decision: Anticipating the test result; Focusing on consequences; Dealing with information; Interpreting disease risk; Using external guidance; and (Re-)Considering the general uncertainty of life. Limitations Our findings are limited to the context of predictive genetic testing for hereditary cancer syndromes. This qualitative study does not allow extrapolation of the relative frequency of which heuristics occur. Conclusions The use of heuristics is an inherent part of decision-making, particularly in the complex context of genetic testing for inherited cancer predisposition. However, some heuristics increase the risk of misinterpretation or exaggerated external influences. This may negatively impact informed decision-making. Thus, this study illustrates the importance of genetic counselors and medical professionals being aware of these heuristics and the individual manner in which they might be applied in the context of genetic testing decision-making. Findings may offer practical support to achieve this, as they inductively focus on the counselees’ perspective.

scholarly journals Personalized Decision Making on Genomic Testing in Early Breast Cancer: Expanding the MINDACT Trial with Decision-Analytic Modeling

2021 ◽  
pp. 0272989X2199117
Author(s):  
Ewout W. Steyerberg ◽  
Liesbeth C. de Wreede ◽  
David van Klaveren ◽  
Patrick M. M. Bossuyt
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Genetic Testing ◽  
Early Stage ◽  
Pragmatic Trial ◽  
Genomic Signature ◽  
Genomic Testing ◽  
Analytic Modeling ◽  
Clinical Risk ◽  
Genomic Test

Background Genomic tests may improve upon clinical risk estimation with traditional prognostic factors. We aimed to explore how evidence on the prognostic strength of a genomic signature (clinical validity) can contribute to individualized decision making on starting chemotherapy for women with breast cancer (clinical utility). Methods The MINDACT trial was a randomized trial that enrolled 6693 women with early-stage breast cancer. A 70-gene signature (Mammaprint) was used to estimate genomic risk, and clinical risk was estimated by a dichotomized version of the Adjuvant!Online risk calculator. Women with discordant risk results were randomized to the use of chemotherapy. We simulated the full risk distribution of these women and estimated individual benefit, assuming a constant relative effect of chemotherapy. Results The trial showed a prognostic effect of the genomic signature (adjusted hazard ratio 2.4). A decision-analytic modeling approach identified far fewer women as candidates for genetic testing (4% rather than 50%) and fewer benefiting from chemotherapy (3% rather than 27%) as compared with the MINDACT trial report. The selection of women benefitting from genetic testing and chemotherapy depended strongly on the required benefit from treatment and the assumed therapeutic effect of chemotherapy. Conclusions A high-quality pragmatic trial was insufficient to directly inform clinical practice on the utility of a genomic test for individual women. The indication for genomic testing may be far more limited than suggested by the MINDACT trial.

Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing

2006 ◽  
Vol 42 (7) ◽  
pp. 871-881 ◽  
Author(s):  
Julien Mancini ◽  
Catherine Noguès ◽  
Claude Adenis ◽  
Pascaline Berthet ◽  
Valerie Bonadona ◽  
...  
Keyword(s):  
Decision Making ◽  
Genetic Testing ◽  
Information Booklet ◽  
Brca Genetic Testing
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