From genetic variation to precision medicine, the distinction between rare and common disease genetics can be problematic

A recent study that was carried out by genetics specialists Panagiotis I. Sergounioti, Ewan Birney and Tomas Fitzgerald has shed light on the significant disparities that exist between the genetics of rare diseases and those of common diseases.

Understanding diverse facets of life has always relied heavily on the application of genetics as a key tool. The application of this knowledge is currently being used to change clinical treatment for people, particularly with regard to the field of precision medicine.

According to the findings of the study, genetics is likely to play an especially important role in the field of uncommon illnesses. Because these ailments are often caused by variations in the DNA sequence of a single gene or a small number of genes, it is much easier to research and comprehend them than it is with multifactorial common disorders.

However, the research also emphasizes that there are challenges associated with making a distinction between the genetics of rare and common diseases. It may make it more difficult to appreciate the continuum of human characteristics, as well as the intricate interaction of genetic, environmental and random elements that contribute to the majority of prevalent illnesses.

This disagreement is reminiscent of an argument that took place a century ago between proponents of the Mendelian and biometric approaches to human genetics. The authors suggest that in order to have a complete understanding of the causes of human disease, it is necessary to adopt a holistic perspective that takes into account a wide variety of both hereditary and environmental influences.

In general, the findings of the study highlight the significance of genetics in the field of medicine, particularly in the context of the study of rare diseases. Yet it also underscores the need for a more thorough approach to understanding the numerous genetic and environmental components that contribute to the majority of illnesses.

Researchers have the potential to make great progress toward increasing clinical care and improving patient outcomes if they adopt a holistic perspective and integrate the study of the genetics of both rare and common diseases.