What Is Human Genetics: How Important Is It To Science Today?

Page content

What is Human Genetics?

Human genetics is defined as the study of how genetic inheritance takes place in the human species, or how inheritance of various characteristics from parents to kids takes place. The process of genetic inheritance in human beings and the study of human heredity now hold a central position in the field of science. The interest in the query “what is human genetics” is fueled from the fundamental need to understand how human genetics and the process of human inheritance affect the manifestation of genetic disorders.

Applications Of Human Genetics In Science

Human genetics provides critical understanding of the occurrence, diagnosis and treatment of various genetic disorders and diseases which have a genetic basis. It is an integral part of several overlapping scientific fields that include: traditional genetics, cytogenetics, molecular and biochemical genetics, bioinformatics, genomics, population genetics, research and pharmaceuticals, clinical genetics and genetic counseling.

Human genetics has contributed to vast developments and advances in scientific fields like human genomics through successful projects like the human genome project. This particular field emphasizes the application of genomic approaches to provide better understanding of human genetic diseases, the process of new drug discovery and studies of variable drug reaction due to different genetic make-up in persons.

A better understanding of human genetics has also resulted in cooperative research between academicians and practitioners in the clinical and pharmaceutical industries as both have common aims of maximizing the potential scientific benefits of the Human Genome Project. The study has lead to advances in the science of pharmacogenomics, expression profiling, proteomics, use of bioinformatics and animal models in testing new drugs and therapeutic treatments.

Human genetics has provided details about how genes are involved in genetic disorders. This in turn has lead to advances in the development of improved therapeutic treatments and appropriate management of these genetic disorders as well as providing invaluable genetic counseling to affected families on the risk factors. Since there is better understanding of how genetics is involved in disease, it is possible to now carry of genetic testing for newborn infants. Early diagnosis helps in better treatment and management of genetic disorders.

The development of new and advanced techniques like gene cloning has provided the use of gene therapy in clinical practice. Cloning has made it possible to replace any defective gene with in vitro, corrected copies to treat genetic disorders. Human genetics is both a basic as well as applied science. As a basic science, human genetics explores the results obtained in experimental data on laws of genetic transmission and how these affect the development and function of human beings.

Human genetics is also a practical, applied science since it not only evaluates the theoretical implications of experimental data, it also uses this data to equate the value for practical applications in human welfare. This is done in scientific fields like bioinformatics which has helped to sort the vast amounts of genetic data obtained in the human genome project into useful information on the various genes, their functions and relationships to disease.

Limitations and Issues

What is human genetics? It is a science that has opened up vast, new beneficial applications in many branches of science, although there are still many ethical and technical concerns which are still under debate. The most debatable issue at present is the ethical use of human genetics in research and development, since many people are concerned that it could be misused in non-ethical research which is not for human welfare but for commercial and cosmetic purposes. As a result, even though human genetics and its contributions to scientific development are limitless, ethical use has to be also considered.


  1. C. Stern. Principles of Human Genetics (Freeman,

San Francisco, 1973).

  1. Vogel, F. & Motulsky, A. G. Human Genetics: Problems and Approaches (Springer, Berlin, 1982).
  1. Risch, N.J. (2000). Searching for genetic determinants in the new millennium. Nature, 405.