Quality assurance in interpretation and reporting in genome wide diagnostics

When

From 20 May 2016
Until 20 Apr 2016

Where

Barcelona, Spain


What

Programme

09:00     Registration and welcome coffee 

09:20

Welcome note
Hans Scheffer, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands 

09:30-10:15Standardizing 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

10:15-10:45EuroGentest guidelines for diagnostic NGS – key points related to quality and interpretation
Gert Matthijs, Department of Human Genetics, KU Leuven, Belgium 

10:45-11:15ISO 15189 accreditation for NGS – what are the possibilities using an external laboratory, what about interpretation and reporting 
Els Dequeker, KU Leuven, Belgium

11:15-11:45Coffee break 

11:45-12:15External Quality Assessment for whole genome diagnostics 
Sandi Deans, UK NEQAS for Molecular Genetics, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK 

12:15-12:45NIPT
Erik A. Sistermans, Head of Genome Diagnostics,VU University Medical Center, Amsterdam, The Netherlands

12:45-13:15BRCA1 and BRCA2 mutation analysis in formalin-fixed paraffin-embedded tumor samples
Marjolijn Ligtenberg, Radboud University Medical Centre, Nijmegen, Nijmegen, The Netherlands

13:15-14:00Lunch

14:00-14:30

Bioinformatic challenges in clinical exome sequencing
Christian Gilissen, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands

14:30-15:00Challenges of secondary findings
Luca Lovrecic, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slovenia 

15:00-16:30 

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))

 

16:30-17:00Concluding remarks

 

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