An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Visit the platform:
- RD-Connect Project
- Resources
- Documentation
- Contact
- This event has passed.
ESHG 2014 Satellite Meeting
May 30, 2014
Programme:
| 10.00 | Get together and introduction | |
| 10.30-11.00 | New technologies, new possibilities Hans Scheffer (Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands) How is diagnostics changing medical practice? Diagnostic utility and (preliminary) evidence for better care. |
|
| 11.00-11.30 | New technologies, new challenges Wendy Jones (Wellcome Trust Sanger Institute, Hinxton, UK) On the clinical challenges, and how to report results and other findings to patients and families. |
|
| 11.30-12.00 | New technologies, new quality issues Els Dequeker (Biomedical Quality Assurance Research Unit, Department of Public Health and Primary Care, University of Leuven, Belgium) How to adapt a quality system to a novel technology? Don’t forget that existing rules still apply. |
|
| 12.00-12.30 | A contribution to European Guidelines on diagnostic NGS Gert Matthijs (Center for Human Genetics, University of Leuven, Belgium) on behalf of EuroGentest’s working group on guidelines for diagnostic NGS. |
|
| 12.30-13.00 | Cross border testing in Europe – several problems to be solved? Pia Pohjola and Helena Kääriäinen (National Institute for Health and Welfare, Helsinki, Finland) on behalf of the European Union Committee of Experts on Rare Diseases (EUCERD). |
|
| 13.00-14.00 | Lunch | |
| 14.00-15.30 | Workshop 1: Genomic data to laboratory report: tools and quality issues Moderated by Bert Bakker, Jan Traeger-Synodinos and Ros Hastings Practical workshop to share emerging guidelines on reporting and collect evidence from the field (i.e. how people practice it currently).This workshop will discuss whole genome analysis (NGS and microarray) and cover variant calling parameters, quality control, confirmation/follow up, predicting functional effects of DNA variants and the limitations of NGS/microarray analysis and laboratory report content. |
|
| 16.00-17.30 | Workshop 2: Ethical and societal aspects of genome diagnostics Moderated by Anne Cambon-Thomsen and Martina Cornel What kind of guidance do we need to properly introduce NGS into medical practice? Practical workshop to collect participant’s views. |
|
| 17.30-18.00 | Concluding remarks |
There are no upcoming events.