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 | |
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09:20 |
Welcome note Hans Scheffer, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 12:15-12:45 | NIPT Erik A. Sistermans, Head of Genome Diagnostics,VU University Medical Center, Amsterdam, The Netherlands |
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| 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 |
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| 13:15-14:00 | Lunch | |
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14:00-14:30 |
Bioinformatic challenges in clinical exome sequencing Christian Gilissen, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands |
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| 14:30-15:00 | Challenges of secondary findings Luca Lovrecic, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slovenia |
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| 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)) |
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| 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.
