Congratulations to all of our staff who recently featured at this year's ACGS conference; the 'largest of the constituent groups of the British Society for Genetic Medicine'.
The annual event, which aims to bring together likeminded professionals, academics and industry leaders working in the field of genomics and genetics, was held on 11th and 12th of July at Birmingham ICC.
Delegates attending the event were treated to a host of key presentations and poster exhibits including AWMGS' resident Bioinformatician Joseph Halstead, who delivered a lightning talk on 'Variant Bank: A flexible database and web application for the clinical analysis of variants from WGS and WES assays'.
Speaking ahead of the presentation, Joseph said:
"I'm excited to share the incredible of work of the AWMGS bioinformatics team with the wider UK clinical genomics community. The innovative software we've developed is allowing us to scale up Whole Genome Sequencing and Whole Exome Sequencing testing in Wales and gives us the control we need to get the best results for patients".
Also participating in the 'lightning talk' segment was Jana Jezkova with her presentation titled: 'Solving the Unsolved: Reanalysis of genomic data to increase diagnostic yield in patients with critical illness and early-onset epilepsy'.
Many international studies report how rapid genomic sequencing (rGS) improves outcomes for acutely unwell children by reducing the need for multiple diagnostic tests and invasive procedures, facilitating earlier treatment decisions, and preventing repeat inpatient admissions. AWMGS is seeking to explore unsolved rGS cases in a research environment using less stringent filters and updated software tools, and looking at a wider range of variants, including advanced genomic techniques such as long-read sequencing and whole transcriptome analysis to inform future analysis pipelines to improve NHS genomic service provision.
Clinical Scientist, Sian Wood, PHD also showcased 'Molecular Testing of Solid Tumours: A Retrospective Review of Results Delivered by the CYSGODI Service (Cymru Service for Genomic Oncology Diagnoses)'.
CYSGODI launched in 2021 to offer high-quality oncology precision medicine services using next generation sequencing technology to screen for targeted genes in a tumour or haematological malignancy. This flagship service continues to provide clinicians with crucial information as to the patients diagnosis, prognosis and which treatment are most likely to be effective, therefore ensuring the best outcome for the patient.
Presenting posters (downloadable below) at the event were:
Jade Heath, PHD provided a comprehensive update of the newly launched All Wales Psychiatric Genomics Service (AWPGS) which facilitates comprehensive, multidisciplinary advice, genetic information and access to genetic testing, where appropriate, for individuals in whom there may be concerns about a genetic predisposition to mental health disorders. Giving mental health parity with other services.
Deputy Head Of Cancer Genomics, Sally Spillane shared the findings of a recent 'Public Consultation into the Introduction of Laboratory Service Improvement'.
It was Dr Lucy Lewis, PHD whose poster caught the eye of the judges scooping 'Best poster' for her submission on 'Implementation of National Genomic Sequencing service for Intellectual Disability and Congenital Malformations for Welsh Patients.
Though a small sample size, the introduction of national genomic sequencing services for Welsh patients with Congenital Malformations and/or Dysmorphisms (CM/D) and Intellectual Disability has thus far shown a diagnostic yield of ~50% demonstrating greater detection rates than traditional microarrays. Our in-house bioinformatics pipeline/databases and phenotype-driven analysis improves variant filtering and minimises staff workload to enable a quicker reporting TAT.
For more information, please click the download button below.
