A regulatory framework ought to guarantee safe, high-quality care pathways including appropriate accreditation of laboratories undertaking genetic and genomic testing. Laboratory accreditation processes around the world are developed with reference to local legislation as well as standards from the International Organization for Standardization (ISO) including ISO 15189 Medical Laboratories – requirements for quality and competence.
As examples, in the US, the Centers for Medicare & Medicaid Services (CMS) regulates all laboratory testing (except research) including clinical genetic testing through the Clinical Laboratory Improvement Amendments (CLIA).
In Australia, the National Association of Testing Authorities and the Royal College of Pathologists of Australia (NATA/RCPA) run an accreditation scheme for this purpose with the National Pathology Accreditation Advisory Council (NPAAC) overseeing the standards and providing education to the sector.
The EuroGentest project considered the harmonization of genetic testing and improvement of quality of genetic services throughout Europe. As part of this work the external quality assessment (EQA) schemes in Europe (CF Network, ERNDIM, GenQA (formally CEQA) and EMQN) worked together to improve individual EQA schemes and also to harmonise EQA processes. In 2016, EuroGentest and the European Society of Human Genetics, published guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders.
In 2018 a joint recommendation of the Association for Molecular Pathology and the College of American Pathologists was published on Standards and Guidelines for Validating Next- Generation Sequencing Bioinformatics Pipelines. This guidance included 17 best practice recommendations for the validation of clinical NGS bioinformatics pipelines including practical guidance for laboratories regarding NGS bioinformatics pipeline design, development, and operation.