title: 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 targeted at laboratories and clinical units registered with the Orphanet database. The specific aims were to clarify the volume, quality and challenges of cross-border genetic testing. The results revealed, for example, that the variability of the required documentation creates confusion and, unexpectedly, sample dispatch was considered a major problem in cross-border testing. In addition, the differences between countries regarding the reimbursement and authorization policies of cross-border testing were significant, thus confirming the pre-existing assumption about unequal access to genetic testing in the different Member States. To facilitate and organize cross-border testing, common practices need to be created at the level of the EU, and follow-up studies are needed to monitor their effects.
authors.affiliation: Hospital District of Southwest Finland, Diagnostic and Related Services of Turku University Hospital, TYKS Microbiology and Genetics, Department of Medical Genetics, Turku, Finland.
authors.forename: Pia
authors.initials: P
authors.lastname: Pohjola
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Victoria
authors.initials: V
authors.lastname: Hedley
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
authors.affiliation: National Institute for Health and Welfare, Helsinki, Finland.
authors.forename: Helena
authors.initials: H
authors.lastname: Kääriäinen
mesh_terms: D030561:Databases, Nucleic Acid / Q000458:organization & administration; D004641:Emigration and Immigration / Q000331:legislation & jurisprudence*; D005062:European Union; D005820:Genetic Testing / Q000331:legislation & jurisprudence*; D006801:Humans; D007391:International Cooperation; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics*