Methodical and ethical aspects of nucleic acid diagnostics. A review

Aside from the established enzymatic and immunodiagnostic procedures, an increasing number of diagnostic procedures for nucleic acid detection--i.e. for the detection of the primary genetic information--has been developed in recent years. For the routine use of these diagnostic procedures in central analytical laboratories or by the general practitioner, automated DNA analysis methods with integrated highly sensitive detection systems have been developed. The most important objective of these developments--aside from the elucidation of the type of genetic defect on the molecular level through basic research--is the generation of a quantitative nonradioactive signal in corresponding analyzers. Detection methods using the ELISA principle as quantifiable reporter system--analogous to the automatic immunodiagnostic procedures--have hence been developed in recent years. Owing to the increasing importance of this analysis procedure alternative to the detection of bioactive low molecular weight substances or proteins--i.e. nucleic acid diagnostics--the following is an attempt to provide a survey of the methods and possibilities of application. Moreover, possibilities for nonradioactive signal generation and amplification will be presented. The chances and risks of genome diagnostics will be discussed in a final section.