Psychosocial Impact of Predictive Testing for Myotonic Dystrophy Type 1
Référence bibliographique 
Prévost, Claude, Veillette, Suzanne, Perron, Michel, Laberge, Claude, Tremblay, Carmen, Auclair, Julie, Villeneuve, Josée, Tremblay, Marc et Mathieu, Jean. 2004. «Psychosocial Impact of Predictive Testing for Myotonic Dystrophy Type 1 ». American Journal of Medical Genetics Part A, vol. 126, no 1, p. 68-77.
Intentions : « The goals of the present study were (1) to provide a sociodemographic description of the test applicants, (2) to analyze their motives for requesting a predictive test, (3) to assess the psychosocial impact of predictive testing and, (4) to examine the opinions of participants toward the predictive program. » (p. 69)
Échantillon/Matériau : « From 1 to 12 years (median, 5 years) after receiving predictive testing, a total of 308 participants (44 carriers and 264 non-carriers) answered a questionnaire to determine the psychosocial impact of this genetic testing. » (p. 70)
Instruments : - « The questionnaire (56 multiple-choice items) took an average of 40 min to be completed » (p. 70); - Psychiatric Symptom Index (PSI); - Rosenberg Self-Esteem Scale.
Type de traitement des données : Analyse statistique
« In the Saguenay–Lac-Saint-Jean region (Quebec, Canada), a predictive DNA-testing program for myotonic dystrophy type 1 (DM1) has been available as a clinical service since 1988. [...] The main reasons for wanting to be tested were to learn if children are at risk for DM1 or for reproductive decision making (75%) and to relieve the uncertainty for themselves (17%). The majority of participants (96.1%) remembered correctly their test result. At the time of the survey, the perception of the general well-being, the psychological distress (Psychiatric Symptom Index), and the self-esteem (Rosenberg Self-Esteem Scale) were similar in carriers, in non-carriers, and in the reference (Quebec) population. When participants indicated a change in different aspects of their lives following predictive testing, it was perceived as a change for the better by non-carriers and as a change for the worse by carriers. Nevertheless, for a majority of carriers and of non-carriers, the test result did not bring changes in their lives. All respondents believed that predictive testing should be available for the at-risk population and the vast majority of carrier and of non-carriers would recommend the use of predictive testing to their family members. Predictive testing for individuals at-risk of DM1 can be offered safely within a well-organized clinical and genetic counseling program that includes careful pre-test counseling, pre-test clinical assessment, post-test psychological support, and follow-up for those identified as carriers. » (p. 68)