Quality assurance in interpretation and reporting in genome wide diagnostics

Friday, May 20, 2016,
Room 129+130, CCIB – Barcelona, Spain

 

Programme

09:00 Registration and welcome coffee

09:20

 Welcome note
Hans Scheffer, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
09:30-10:15 Standardizing clinical genome diagnostics: a view from the North America 
Matthew Lebo, Partners Healthcare, Personalized Medicine, Laboratory for Molecular Medicine, Brigham and Woman’s Hospital and Harvard Medical School, Boston, USA
10:15-10:45 EuroGentest guidelines for diagnostic NGS – key points related to quality and interpretation
Gert Matthijs, Department of Human Genetics, KU Leuven, Belgium
10:45-11:15 ISO 15189 accreditation for NGS – what are the possibilities using an external laboratory, what about interpretation and reporting
Els Dequeker, KU Leuven, Belgium
11:15-11:45 Coffee break
11:45-12:15 External Quality Assessment for whole genome diagnostics
Sandi Deans, UK NEQAS for Molecular Genetics, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK
12:15-12:45 NIPT
Erik A. Sistermans, Head of Genome Diagnostics,VU University Medical Center, Amsterdam, The Netherlands
12:45-13:15 BRCA1 and BRCA2 mutation analysis in formalin-fixed paraffin-embedded tumor samples
Marjolijn Ligtenberg, Radboud University Medical Centre, Nijmegen, Nijmegen, The Netherlands
13:15-14:00 Lunch

14:00-14:30

 Bioinformatic challenges in clinical exome sequencing
Christian Gilissen, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
14:30-15:00 Challenges of secondary findings
Luca Lovrecic, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slovenia
15:00-15:15 Coffee break
15:15-16:45 Interpretation in challenging cases of clinical exome and genome sequencing
Conny van Ravenswaaij, Department of Genetics, University Medical Centre Groningen, The Netherlands
Ales Maver, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slovenia
(Moderators + cases from organisers and audience (preselected))
16:45-17:00 Concluding remarks

 

Registration

Registration Fee: EUR 50.-, includes admission, coffee and lunch breaks.
Pre-registration is closed. Kindly register onsite on Friday, May 20 from 08:00 hrs onwards at the conference venue CCIB.