The European Society
of Human Genetics

EuroGentest – ESHG

EuroGentest – ESHG Committee presents the 3rd satellite meeting:

Quality assurance in interpretation and reporting in genome wide diagnostics

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


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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

10:15-10:45 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

13:15-14:00Lunch

14:00-14:30

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

14:30-15:00 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))

16:45-17:00Concluding remarks

From genetic testing to genome diagnostics: quality, clinical utility and counselling issues

June 5, 2015, SECC Glasgow

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.