Exploring Human Genetic Variation – Scientific and Ethical Challenges

Since the genomic era is a reality nowadays, we need deeper understanding and consideration upon the benefits and challenges it brings. Apart from all the enthusiasm, there are also concerns related to genomics, specifically to the use and storage of personal genetic information as well as concerns regarding, for instance, so-called incidental findings, and right not to know. It started with Mendel’s simple experiments, but led to high-throughput sequencing technologies, resulting complex genomic data is constantly poured into public and private databases, inevitably changing our current knowledge. With the advent of new techniques and methods, like CRISPR/Cas9 engineering, researchers are provided with improved and expanded repertoire of research tools to analyse an organism in health and disease. This paper is aimed at providing examples of the applications and challenges, both practical and theoretical, in exploring human genetic variation.