Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Ashley Crook ◽  
Chris Jacobs ◽  
Toby Newton-John ◽  
Ebony Richardson ◽  
Alison McEwen
Keyword(s):  
Decision Making ◽  
Genetic Testing ◽  
Familial Als ◽  
Testing And Counseling

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

Genetic Testing and Counseling for Hypertrophic Cardiomyopathy

2019 ◽  
Vol 37 (1) ◽  
pp. 35-43 ◽  
Author(s):  
Allison L. Cirino ◽  
Christine E. Seidman ◽  
Carolyn Y. Ho
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Testing And Counseling

scholarly journals AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia

2017 ◽  
Vol 5 (S2) ◽  
pp. AB065-AB065
Author(s):  
Nurin Aisyiyah Listyasari ◽  
Nydia Rena Benita Sihombing ◽  
Tri Indah Winarni ◽  
Maria Belladona ◽  
Sultana MH Faradz
Keyword(s):  
Genetic Testing ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Testing And Counseling ◽  
Autosomal Dominant Spinocerebellar Ataxia

scholarly journals Evaluation of Reproductive Concerns and Biographical Impact of Breast Cancer in Young Patients

Breast Care ◽  
2018 ◽  
Vol 13 (2) ◽  
pp. 124-128 ◽  
Author(s):  
Maximiliane Burgmann ◽  
Kerstin Hermelink ◽  
Alex Farr ◽  
Friederike van Meegen ◽  
Annika Heiduschk ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Fertility Preservation ◽  
Young Patients ◽  
Initial Decision ◽  
Time Period ◽  
Partnership Status ◽  
Reproductive Concerns ◽  
Young Breast Cancer ◽  
Testing And Counseling

Background: This study evaluates interventions offered to young breast cancer (BC) patients, including fertility preservation, genetic testing, and counseling for parenthood concerns, and analyzes the effect of BC on biographical issues. Methods: Women who were diagnosed with BC at the age of 18-40 years and who underwent treatment at the Breast Center, Ludwig-Maximilian University (LMU) in Munich between 2006 and 2013, were eligible for this study. Patients received a self-developed questionnaire which covered the following topics: fertility preservation, family planning, genetic testing, parenthood concerns and children's needs, partnership status, and employment situation. Results: Re-evaluating their initial decision on fertility preservation, 76.4% of patients reported satisfaction with their decision. After BC diagnosis, 45.8% reported to have maternal desire, but only 21.7% actually planned to have children. 41.7% of patients missed sufficient counseling regarding parenthood concerns. Analysis of individual employment situations showed that the time period until the return to work was longer in patients who received chemotherapy. The majority of patients (71.6%) did not report changes in their partnership status. Conclusion: Young BC survivors report a lack of communication related to parenthood concerns and future conception, but are satisfied with counseling regarding fertility preservation and genetics.

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