Workshop on cross-border genetic testing for RDs

The workshop held on 15-16 December 2014 in Newcastle, UK, was organised through the EUCERD Joint Action (N° 2011 22 01) in the scope of WP8.

Workshop Objectives:
This workshop aimed to address key issues identified through research conducted in the context of the EUCERD Joint Action, targeting all 28 Member States (MS) and designed to assess the experiences of laboratories and genetics clinics regarding the volume of cross-border genetic testingn (CBGT) for RD, the reasons for commissioning such tests abroad, eventual obstacles to purchasing tests abroad, and how testing laboratories and counselling clinics experienced the testing process in different Member States. The results of this exercise demonstrate significant diversity across the EU, in terms of the nature and extent of difficulties faced by a) clinics requesting tests and b) laboratories performing the testing. These findings, by extension, suggest that substantial inequalities exist across the EU for patients seeking genetic diagnoses. For patients afflicted by a rare condition, obtaining an accurate and timely diagnosis is essential, as the diagnosis is the first step to accessing appropriate medical expertise and essential social support.

The workshop also served to elaborate a draft recommendation to guide practices in the field of cross-border genetic testing for discussion and adoption by the Commission Expert Group on Rare Diseases.

The EUCERD and EC Joint Research Centre held an expert workshop on the genetic testing offer in Europe in Ispra on 19-20 November 2012, on which this work will build.

Outcomes: