The Brussels meeting discussed in detail the first steps to achieve the short-term goals of WG1, WG2 and WG4. As there is a strong overlap between these WGs, a joint effort is required to ensure high-quality research of CNV carriers with NDD and further development of standardized best practice research methodologies which will contribute to the optimal care of these patients.
Accordingly, several major points have been discussed:
- Development of a short survey to take stock of the studies of patients with CNVs currently going on in MINDDS member states and other countries;
- How to use information from a short survey to develop a more detailed survey which will provide deeper information on these studies;
- Ethical, legal and social implications for using the surveys and building a platform for CNV research;
- Proposals for Training schools.
The timeline for delivery of the surveys has been set-up and each participant has been assigned for some of the tasks. Specifically, the focus will be: to characterise referral pathways for CNV carriers in each participating country; to identify existing data resources from each research study (such as informants, ethics procedures, phenotypic measures, number of available samples, etc.) that will deliver effective data collection. The knowledge gained from these surveys will facilitate collaboration between MINDDS members, leading to joint position papers which should be submitted by July 2019.
Furthermore, discussing needs for additional education and knowledge exchange, two training schools have been proposed. They would cover assessments for clinical phenotyping and genetic literacy, which would be beneficial particularly for ITC.
