Classical clinical genetics in the era of molecular genetics

✍ Scribed by Méhes, K.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 5 KB
• Volume: 61
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960202)61:4<394::aid-ajmg16>3.0.co;2-n

✦ Synopsis

Medicine is undergoing a quiet revolution. Molecular genetics is transforming clinical science and practice; the development of the Human Genome Project allows new methods of disease identification and of predicting disease patterns for individual patients. Knowledge of the human genome will deepen our understanding of pathological processes and may lead to prevention or effective therapy of currently not treatable diseases [Fulginiti, 19931. No wonder that most clinical geneticists as well as pediatricians, obstetricians, and pathologists with an interest in cytogenetics, syndromology, and genetic epidemiology are enthusiastic about the new methods and perspectives and have committed themselves to molecular genetics. A parallel trend is observed in the leading journals in this field: In most of the genetic periodicals DNA studies have gained ascendancy over clinical, epidemiological, and family investigations applying nonmolecular methods, methods which have almost disappeared from some of the leading genetic journals characterizing themselves as "human," "medical," or "clinical" in their titles (the exception of the American Journal of Medical Genetics only proves the rule). It is by no means surprising that the training of students has also been adapted to this development. In the curriculum of most medical faculties the limited amount of genetic instruction is devoted more and more to molecular methods rather than classical genetics and it is still a general complaint that this limited time does not suffice to teach even the rudiments of up-todate techniques and principles.

This progress in molecular genetics undoubtedly is a beneficient advance. However, its overestimation and the neglect of classical methods of clinical genetics will result in adverse effects. Most importantly this will affect the adequate evaluation of the clinical picture, i.e., the phenotype. This may lead to incorrect selection of patients for more sophisticated and often wasteful investigations with immense expenses, whereas patients and families in urgent need of molecular analyses may miss the necessary investigations.