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Recommendation on cross border genetic testing of rare diseases in the European Union

Tuesday 24 November 2015

JPEGThe Commission Expert Group on Rare Diseases issued recommendation on cross border genetic testing of rare diseases in the European Union:

1.Obtaining an accurate and timely diagnosis is a priority for all people with a potentially genetic RD; therefore, access to genetic testing -whether provided locally or on a cross-border basis- should be ensured, to facilitate such diagnoses, when there is a clear clinical indication.

2. The expert group underlines the importance of assessing genetic testing, on the basis that early diagnosis through clinically-guided genetic testing may avoid the need for further invasive and/or unnecessary exploratory and therapeutic procedures.

3. Whether genetic testing is provided on the national/regional level or on a cross-border basis, expertise should be shared at the EU (or global) level.

4. Appropriate information on genetic testing laboratories should be made available to facilitate cross-border genetic testing of rare diseases, particularly when pertaining to the quality of laboratories.

To read the recommandation, click here.

Fondation René Touraine