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Next-generation sequencing (NGS) is replacing other molecular techniques to become the de facto gene diagnostics approach, transforming the speed of diagnosis for patients and expanding opportunities for precision medicine. Consequently, for accredited laboratories as well as those seeking accreditation, both objective measures of quality and external review of laboratory processes are required. External quality assessment (EQA), or Proficiency Testing (PT), can assess a laboratory's service through an independent external agency, the EQA provider. The analysis of a growing number of genes and whole exome and genomes is now routine; therefore, an EQA must be delivered to enable all testing laboratories to participate. In this paper, we describe the development of a unique platform and gene target independent EQA scheme for NGS, designed to scale from current to future requirements of clinical diagnostic laboratories testing for germline and somatic variants. The EQA results from three annual rounds indicate that clinical diagnostic laboratories are providing an increasingly high-quality NGS service and variant calling abilities are improving. From an EQA provider perspective, challenges remain regarding delivery and performance criteria, as well as in analysing similar NGS approaches between cohorts with meaningful metrics, sample sourcing and data formats.
Pubmed ID: 31570784
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Welcome to the EMQN website. EMQN is a not-for-profit organisation promoting quality in molecular genetic testing through the provision of external quality assessment (proficiency testing schemes) and the organisation of best practice meetings and publication of guidelines. The European Molecular Genetics Quality Network (EMQN) started in October 1998 after a successful pilot trial. 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). From April 2002, the network is supported by subscriptions from it users. External Quality Assessment (EQA): There are 26 EQA schemes being offered in 2010. To participate you must be a registered member of the network. For more information on EQA schemes, click the link here. Best Practice: EMQN is actively promoting ''best practice'' meetings on individual diseases. To assist in this process, EMQN will be organising best practice meetings. To participate you must be a registered member of the network. Following the meeting, draft best practice guidelines are produced and publised on this and other related websites, for example, the web site of the UK Clinical Molecular Genetics Society (CMGS). To find out more about best practice click here. Administration: The EMQN is based at the National Genetics Reference Laboratory (Manchester), St Mary''s Hospital, Manchester, The United Kingdom. The Network is co-ordinated and administered by Dr''s Rob Elles and Simon Patton. A management group is responsible for the activities and direction of the network. National partners in different countries help to disseminate information about the network. Quality Policy The EMQN provides a comprehensive range of quality assurance programs for molecular genetics to laboratories and industry worldwide. The European Molecular Genetics Quality Network (EMQN) is committed to helping ensure diagnostic molecular genetic laboratory test results are accurate, reliable and comparable wherever they are produced. The EMQN will provide a high quality and timely service which takes into account the needs and requirements of its users. Objectives To help to raise and maintain the standards of diagnostic clinical molecular genetic testing. To undertake and promote educational activities. To be a leading authority in quality assurance . To design and provide the best possible materials and data management. To design and provide quality reports that are timely and valid. To provide professional support and consultation. To develop new programs as required. To participate in peer review. To strive for continual improvement of the quality system. Sponsor. the network was supported by a grant from the European Commission under the Standards Measurement and Testing Programme (contract number SMT4-CT98-7515
View all literature mentionsCell line HCT 116 is a Cancer cell line with a species of origin Homo sapiens (Human)
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