Gene Diagnostics

A good 50 years ago, the two researchers James Watson and Francis Crick discovered the structure of DNA as the blueprint of all living things and thus the basis for growth and reproduction. Even though they proudly proclaimed at the time that they had solved the “secret of life,” they are unlikely to have realized the actual implications of their groundbreaking discovery.

Genetic Engineering

Today, an entire branch of science has emerged that revolves solely around genetic material and its targeted manipulation. Whether it is the diagnosis of pathologically modified genes, the determination of identity by means of DNA patterns, the synthesis of surface structures of infectious particles for diagnostic purposes or for the production of vaccines, the transfer of genes to foreign organisms for the production of therapeutically useful preparations or the use of DNA for the breeding of particularly resistant plants – the field is huge, with no end to the possible applications in sight.

As great as the euphoria of scientists often is, the fears of the population, e.g. of misuse, the shifting of ethical boundaries or pathogenic effects on the environment, are often just as pronounced. Not without reason: laws and regulations often fail to keep pace with developments, and what is feasible may not always be desirable or morally defensible. To make matters worse, national and international standards diverge, providing loopholes and taking some theoretical discussions ad absurdum.

Nevertheless, genetic diagnostics and therapy have already gained a firm foothold in practice. Today, for example, no diabetic would be expected to resort to preparations derived from cattle or pigs, which are highly allergenic, instead of genetically engineered insulin.

Explanation of terms used in genetic diagnostics.

The term gene analysis or gene testing (instead of “gene”, “DNA” and “DNA” are also used synonymously) encompasses a number of different procedures that exploit or decipher the structure, biosynthesis, and function of DNA for scientific and diagnostic purposes.

The latter is also referred to as genome analysis. This can be done both for the globally complete representation of the genome, i.e. the complete genetic information of a species (e.g. humans within the framework of the human genome project) or of an organism (bacterial, viral, plant genome), and for the individual to answer specific questions.

Gene analyses are used for research, diagnosis, analysis and prevention of genetically caused diseases. By comprehensively analyzing the human genome at the molecular level, scientists are trying to expand their understanding of how the human organism functions and, for example, to find out which components on the DNA are responsible for diseases. It is hoped that this will also lead to new therapeutic and preventive approaches.

In addition, gene analyses are used for prenatal diagnostics, to establish identity in criminology and to exclude or prove paternity. Even in paleontology, the science of animals and plants of past geological eras, DNA analysis can contribute to the clarification of various questions – for example, even the smallest amounts of genetic material can be used to determine relationships, recognize pathogens or identify historical personalities.

The most important procedure is DNA sequencing, in which the sequence of nucleotides (as the smallest building blocks of a DNA molecule) can be determined using various methods and thus the genetic material and its composition can be “read” and compared, so to speak. This is what made genetic research possible in the first place. However, the composition of the human genome is so complex that, despite international efforts, mankind has deciphered its structure but is still far from interpreting it and understanding its function.