Quality Control and Quality Assurance in the Biochemical Genetic Laboratory

Abstract

The requirements placed upon the Biochemical Genetics laboratory are particularly demanding. Samples are often only analysed once, this is frequently in an urgent situation and the sample volume is sometimes very limited. The compounds of interest are unclear at the outset and the biochemical and clinical presentation may be heterogenous. In these challenging circumstances the maintenance and documentation of reliable quality management systems is vital. External quality assurance and internal quality control have complimentary roles within an overall framework which emphasises: management structure, proper process and outcome assessment. Accreditation systems are usually designed to address all of these components. The careful scrutiny of external quality assurance results in Europe suggests that there are situations in which diagnosis for individual patients and their on-going care may be impaired by poor laboratory performance. This may also affect the interpretation of results from multi-centre trials or research. There is evidence from diagnostic proficiency schemes that particularly rare disorders and those whose recognition may depend upon the identification of single key metabolites can sometimes be missed. The factors that lead to improved diagnostic efficiency include : membership of appropriate external quality assurance schemes; attendance at relevant scientific meetings; adequate experience reflected in a significant departmental workload; a thorough and careful analytical approach. The continued growth of professionally organised external quality assurance schemes and improved training, rather than governmental regulation is probably the best means of ensuring an improvement in patient centred care and laboratory performance.