Challenges raised by cross-border testing of rare diseases in the European union.

ABSTRACT: As the availability of genetic tests has grown rapidly during the last decade along with the increasing knowledge of the genetic background of rare inherited diseases, sending DNA samples to another country for analysis has become more of a routine than an exception in clinical diagnostics. Nonetheless, few studies of cross-border genetic testing of rare diseases in the European Union (EU) have been carried out, and data about the challenges and problems related to cross-border testing are lacking. The purpose of this study was to investigate the experiences of the molecular genetic laboratories and the clinical genetics units concerning the cross-border genetic testing of rare diseases in the Member States of the EU. Data were collected using web-based questionnaires and phone interviews

SUBMITTER: Pohjola P 

PROVIDER: S-EPMC5110067 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature