 previous article in this issue | next article in this issue  |
|
Document Details : Title: Presymptomatic testing for genetic diseases: new frontiers, new dilemmas? Author(s): DE PAEPE A Journal: Acta Clinica Belgica Volume: 55 Issue: 5 Date: 2000 Pages: 244-248 DOI: 10.2143/ACB.55.5.1002909 Abstract : The explosion of genetic knowledge together with the development of new genetic technologies, has significantly increased our understanding of the genetic mechanisms of diseases. New genetic knowledge has not only increased our ability to diagnose individuals with genetic disease, but also to recognise those who are presymptomatic and/or susceptible to disease. One important source of information is the human genome project, an international scientific programme designed to map and sequence all human genes with particular emphasis on genes that cause or may predispose to disease. The project is scheduled for completion by the year 2005, but current expectations are that it will be finished within 2 or 3 years from now. Genetic tests are now already used widely and for different purposes such as newborn screening, carrier detection, prenatal diagnosis and predictive testing for so-called “late-onset” genetic diseases. However, whereas technical advances in genetic testing for this group of disorders have been substantial over the last years, the absence of effective treatments has presented the health profession with major ethical challenges. Here we will review recent developments in presymptomatic testing for genetic diseases and discuss some of the problems associated with it. |
