Whole genome analysis – where all of a patient’s genes are screened for potential disease causing variants – offers the potential for a rapid, responsive NHS testing service. How such a test can be developed and integrated into clinical practice will be discussed by genetic experts in a live webinar hosted by Congenica on Monday 5th December.
The webinar, ‘Practical Applications of Genome Interpretation for Rare Disease Diagnosis & Research’, includes a live presentation by Dominic McMullan, Consultant Clinical Scientist and Head of Germline Genomics programme at Birmingham Women’s NHS Foundation Trust (BWNFT). He will be talking about early success in the PAGE (Prenatal Assessment of Genomes and Exomes) Project.
Analysis of the exome, the part of the genome known to code for proteins, has the potential to provide improved prenatal diagnostic service, as McMullan explains.
He says: “The PAGE project aims to provide rapid diagnosis when a structural anomaly is detected on an ultrasound scan; for example, a heart defect or a skeletal malformation such as shortening of a limb. For many of these things you don’t know if that’s an isolated finding or part of a bigger syndrome – genetics can help you to pin that down.”
The PAGE project is funded by a Health Innovation Challenge Fund award and the Wellcome Trust and is a collaboration between the Wellcome Trust Sanger Institute, BWNFT, University College Hospital Foundation Trust, Great Ormond Street Hospital and many fetal medicine and regional genetics centres across the UK.
To assist diagnosis, the team is using Congenica’s Sapientia™ analysis platform, which supports communication within the multi-disciplinary team (MDT).
Sapientia looks at the sequenced data and highlights those variants that have been previously or potentially associated with disease. Supporting evidence is provided in the form of links to papers and other references. All this information is brought together in one place with a web interface.
McMullan says: “Sapientia is the vehicle where this information is displayed and the decisions are recorded. As it is a web-based tool the MDT can involve specialists from all over the UK – everyone can see the same data, helping to make the project more collaborative.”
The early results are very promising and will help to inform development of a new clinical service.
McMullan continues: “For a number of cases we have discovered what we think are definitely pathogenic changes in the fetal DNA. In the Clinical Review Panel we have identified the cause of the condition and in some instances we have provided a means for potential future prenatal diagnosis.”
Mr McMullan is participating in the webinar together with Dr Matthew Hurles, a Senior Group Leader at the Wellcome Trust Sanger Institute, and Dr Hywel Williams, Senior Research Associate for the Centre for Translational Omics (GOSgene) based at the UCL Great Ormond Street Institute of Child Health. They will be giving in-depth presentations and answering questions about how they have used Sapientia as a platform for interpreting and sharing genetic data.
The live webinar ‘Practical Applications of Genome Interpretation for Rare Disease Diagnosis & Research’ will take place on Monday 5th December 2016 from 4:00 PM - 5:00 PM GMT.
For more information and to register please visit:
www.congenica.com/webinar-genome-interpretation-for-rare-disease-diagnosis-research
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