• 3rd March 2020

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  • 4th March 2020

A two day multi-disciplinary workshop with a focus on the interpretation of genomic test results for endocrine, germline cancer and inherited cardiac conditions.

A multi-disciplinary workshop with a focus on the clinical interpretation of genomic test results.

Workshops focused on genomic variant interpretation for germline cancer predisposition, inherited cardiac conditions and endocrine disorders will run in parallel.

Please find here a flyer for this two day event on the 3rd and 4th March that has been organised by the South West Genomic Laboratory Hub.  The workshops are aimed at Consultant Geneticists, Genetic Counselors, Cardiologists, Endocrinologists and Oncologists and places are fully funded by HEE, so there is no cost for attendance.

Genomic testing can be a highly effective strategy for the molecular diagnosis of rare disorders but requires a multi-disciplinary approach where clinical scientists, referring clinical teams and other experts (where required) determine suitable cases for testing, interpret the results and decide on a management strategy.  This is a new way of working, bringing together the skills, experience and expertise of the clinical teams, clinical scientists and international genetic community to achieve a diagnosis for patients where this was previously not possible.

The aim of this two day multi-disciplinary training workshop is to provide a forum for learning and sharing of ideas about the use of exome and genome sequence analysis to diagnose rare diseases. There will be a mixture of short talks and interactive workshops with hands on experience of different tools that aid genomic variant interpretation. Faculty members include Prof James Ware from the Royal Brompton Hospital, Prof Clare Turnbull, Dr Ellen Thomas and Dr Christine Patch from Genomics England.