Family screening and molecular diagnosis of myotonic dystrophy

Conseil d'Evaluation des Technologies de la Sante du Quebec
Record ID 31999009896
English, French
Authors' objectives:

One of the objectives of this report is to provide a summary of the state of knowledge regarding the genotypic analysis of individuals with myotonic dystrophy and screening for carriers of the causative mutation, and to assess the usefulness of offering such a service in Quebec's health-care system. The report therefore deals with the clinical and genetic aspects of the disease, the test validity, and the screening-and-diagnosis strategy. It also describes the situation in Quebec with regard to these different aspects, the organization of laboratory services, and genetic test needs. Lastly, it provides an overview of the social and ethical issues raised by such a technological development.

Authors' recommendations: The Conseil considers: - that there should be a molecular laboratory service for the purpose of performing the molecular diagnosis of myotonic dystrophy for all of Quebec and that every laboratory service should be subjected to quality controls; - that genetic tests should always be accompanied by appropriate clinical support and clinical follow-up; - that the necessary medical and social resources should be available to adequately meet the demand on the part of all the families concerned, especially if a proactive family screening program is considered; - that studies should be undertaken to: 1) document the epidemiology of the disease in the different regions; 2) confirm the validity of the tests; 3) improve our knowledge about the genotype-phenotype correlation; and 4) assess the social impact of screening on the affected families; - that the public authorities should opt for a mode of organization of services that promotes respect of persons, ensures the same access to services in all the regions and minimizes the risk of discrimination, especially with regard to insurance.
Authors' methods: Review
Project Status: Completed
Year Published: 1997
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Canada
MeSH Terms
  • Mass Screening
  • Myotonic Dystrophy
Organisation Name: Conseil d'Evaluation des Technologies de la Santé du Québec
Contact Address: Conseil d'Evaluation des Technologies de la Santé du Québec, 2021, avenue Union, #1040, Montréal, Québec H3A S29, Canada. Tel: 514-873-2563; FAX: 514-873-1369
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Copyright: Conseil d'Evaluation des Technologies de la Sante du Quebec (CETS)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.