Belfast and Manchester, United Kingdom, [9 Jan 2023] – EMQN CIC, in collaboration with Diaceutics PLC are pleased to announce the launch of a new pilot External Quality Assurance (EQA) program for ophthalmological disease (inherited retinal disorders; IRD). The scheme is designed to support the correct identification of patients with IRD who are eligible for gene therapy.
This pilot EQA program is the first of its kind to specifically target testing which is using guide gene therapy for the treatment of rare diseases and is an important step towards accurate testing and increased identification of patients eligible for therapy.
Participation will enable laboratories to be assessed for their analytical and reporting processes when undertaking genomic testing of IRD with an emphasis on the RPGR (including the ORF15 region), RPE65 and other genes of relevance. The scheme will give an indication about the methodologies which are being employed and any common errors associated with the testing methods. Educational feedback given to the laboratories will assist them to ensure that the most appropriate testing strategies are employed for the future, and that reporting practices are robust and clear.
The pilot EQA program is free to participants through generous sponsorship by a pharmaceutical company and support by Diaceutics PLC. Further details of the EQA program and how to register an expression of interest can be found here.
Simon Patton, CEO of EMQN CIC, said: “Gene therapy for inherited disorders is an exciting new development of genomic medicine that could potentially offer significant clinical benefit to patients where treatment options were once very limited. As these developments come on stream, it is important that companies like EMQN also innovate to ensure that the control processes are in place to enable accurate and high quality patient testing. We are delighted to partner with Diaceutics PLC to ensure that an appropriate EQA scheme is now in place to meet this need.”
About EMQN CIC
EMQN CIC is a leading authority in quality assurance, committed to helping ensure clinical diagnostic genomics laboratory test results are accurate, reliable and comparable – wherever they are produced. The organization was established in 1998 after a successful pilot trial of a Huntington disease EQA scheme the previous year. From January 1999 to March 2002, the network was supported by a grant from the European Commission under the Standards Measurement and Testing Programme (contract number SMT4-CT98-7515). Since April 2002, it has been supported by subscriptions from EQA scheme participants. In June 2021 EMQN was spun out of the UK public health service (NHS) as a Community Interest Company (CIC). The new company, EMQN CIC, currently offers 92 different EQA schemes across 7 different genomics themes including Molecular Genetics, Molecular Pathology, Pharmacogenetics, Pre and Postnatal testing (including non-invasive testing), Sequencing technologies (Sanger, NGS), Virology, and bespoke Interlaboratory Comparisons. For more information please visit our website www.emqn.org.
EMQN CIC is limited by guarantee and registered in England and Wales (Companies House Registration: 12020789). Our registered address is EMQN CIC, Unit 4, Enterprise House, Pencroft Way, Manchester Science Park, Manchester, M15 6SE, United Kingdom.
About Diaceutics PLC
At Diaceutics we believe that every patient should get the Precision Medicine they deserve. We are a data analytics and end-to-end services provider enabled by DXRX: the world’s first Network solution for the development and commercialization of Precision Medicine diagnostics. Diaceutics is trusted by all of the world’s leading pharmaceutical companies, with experience working on >600 diagnostic projects. We have built the world’s largest repository of diagnostic testing data with a growing network of 2500 labs in 53 countries. www.diaceutics.com
