Cell and DNA Standards for Medical Genetics Laboratories
Peter E. Barker
Standards have played a role in establishing human cytogenetic analysis as a clinical laboratory discipline from the beginning. Following implementation of basic cytogenetic techniques and discoveries of chromosomal disorders, scientific necessity inspired a common, standardized system of chromosome nomenclature. This led to the Denver Conference (Denver Conference, 1960). As cytogenetic and molecular genetic technology advanced, similar conferences updated nomenclature to keep pace with advances in the biological information base. Recommendations for medical karyotype analysis was published by the International Standing Committee on Human Cytogenetic Nomenclature (ISCN, 1995). This instituted standard definitions for human chromosome aberrations and variants with global consensus.Likewise, as medical genetics became increasingly perceived as a unique clinical and laboratory specialry, recommendations for conduct of medical genetics laboratory testing (NCCLS, 2000), laboratory quality assurance (McGovern et al., 1999) and for certification of laboratory personnel have appeared (Holtzman and Watson 1997). NCCLS, the service organization that promotes professionalism in clinical laboratory testing, has recently issued guidelines for genetic disease testing (NCCLS, 2000) and FISH technology (NCCLS, 2001).Development of universal physical standards, for biological analytes such as cells and DNA has not kept pace with consensus guidelines and procedural standards for human genetics. Although new to human genetics, NIST (National Institute of Standards and Technology, formerly the National Bureau of Standards,) has a long tradition of development and certification of national physical standards. Increasingly, NIST has become involved in measurements work involving genetics technology and biotechnology standards.
Journal of the Association of Genetic Technologists
genetics laboratories, HER2, karyotyping, standard