Genetics in clinical practice

Summary

The sequencing of the human genome made it possible to identify individual human genes, to determine variations of these genes and to understand their contributions to health and diseases. With technological progress, there came cheaper and more accessible genetic testing. This changes medical genetics from being almost solely focused on diagnosing rare diseases in children and prenatal diagnostics to something available to all age groups. Hence the need for integration of information from and about the field of medical genetics into internal medicine and general practitioners’ everyday work.

The existence of alternative forms of a gene (alleles) in the population, the occurrence of similar, mutation-conditional phenotypes and variability in different loci, the importance of gene interactions and gene-environment interactions in human diseases, the role of somatic mutation in carcinogenesis and aging, the possibility of prenatal diagnosis, non-symptomatic testing and popula-tion screening, the promise of effective gene therapies – all these are ideas and principles that now permeate all areas of medicine.

International collaborative studies show that some 10 % of the population currently require genetic health services at some point in their lives. This percentage will undoubtedly rise in the future, especially with further increases of our knowledge of molecular genetics.

Progress towards the use of genetic approach throughout the continuum of health care for patients and their families depends not only on technological progress, but also on proper training of active physicians.

Keywords:
medical genetics – general practice – internal medicine – history of medical genetics – Klinefelter syndrome