Rapid Whole Genome Sequencing for acutely unwell babies and children with a likely monogenic disorder (R14 service)

24 May – 25 May

Please find attached flyer for this two-day multi-disciplinary workshop with a focus on the clinical interpretation of genomic test results for paediatric onset syndromic and neurological disorders.  This event will be held on the 24th and 25th May 2023 at the Sandy Park Conference Centre, Exeter and has been organised by the South West Genomic Laboratory Hub.  The workshop is aimed at NICU and PICU teams, Paediatricians, Paediatric Neurologists, other mainstream Paediatricians who see children who are eligible for rapid whole genome sequencing through the R14 service and Genetic Counsellors. Trainees from these specialities are welcome to apply, but priority will be given to Consultants, Nurses and Genetic Counsellors if the workshop is over subscribed. Places are funded* by NHS England, so there is no cost for attendance however places are limited.

Genomic testing can be a highly effective strategy for diagnosis of rare conditions but the pathways are complex. It 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 understanding more about the use of genome sequence analysis to diagnose rare diseases. The South West team are keen to learn about your experiences to continue to improve the service together. There will be a mixture of short talks and interactive case-based workshops facilitated by the South West GLH Clinical Scientist team. In response to feedback from our previous workshops, this course will be an introductory course aimed at the non-genetic specialist and will focus on how the clinical scientist team assess eligibility for testing, what clinical details are important to share, how to interpret the diagnostic report and the fundamental principles that underlie genomic variant interpretation.

To apply for a funded place follow the link on the attached flyer.  It would be helpful if you could state your profession and place of work in your registration so that we can make sure that the workshop groups are well balanced. * Funding covers the course, one night’s accommodation (if you are based outside of Exeter) and evening catering on 24th May 2023.  Attendees from the Exeter area will be expected to make their own accommodation arrangements. Travel costs are not included.

Leave a Comment