Psychosocial impact of predictive testing for myotonic dystrophy type 1

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Abstract
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. 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. 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.
Funding Information
  • Université du Québec à Chicoutimi
  • Régie Régionale de la Santé et des Services Sociaux (RRSSS) of the SLSJ region
  • Fonds de la Recherche en Santé du Québec (FRSQ)
  • Canada Research Chairs Program
  • Canadian Institutes for Health Research (CAR43283)