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.