The Human Genome and Its Importance

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Human genome refers to all of the estimated three billion deoxyribonucleic acid (DNA)’s base pairs that constitute the human organism’s entire set of chromosomes.1 The human genome encompasses the DNA’s coding regions, which encode all the human organism’s genes (about 25,000 genes), as well as the DNA’s noncoding regions, which do not play any gene-encoding roles.2

The entire human genome’s DNA sequence got fully known in the year 2003, and it is a record of various trials and successes of the previous generations.3

This paper explores the topic of the human genome with the aim of explaining its meaning, as well as its importance to the field of biology.

            The human genome is a collection of long DNA polymers, just like the genomes of other living organisms. Such DNA polymers are often maintained in the form of chromosomes in duplicate copies in every human cell.4 Besides, the DNA polymers encode the details of physical and molecular characteristics that constitute or form the organism in their sequence of constituent bases (G [guanine], A [adenine], T [thymine], and C [cytosine]).5 The DNA polymers’ sequence, organization, structure, and their chemical modifications provide the required machinery for expressing the information contained in the genome, as well as give the genome the ability to replicate, package, repair, and maintain itself.6  


            Additionally, the human genome is critical to the survival or well-being of the human organism. Without the genome, no tissue or cell could live for long. For instance, the skin cells (which live for 17 days on average) and the red blood cells (which live for about four months), have to be renewed continuously to maintain the human body's viability. The critical information required for the renewal of such cells and several other body cells is found within the genome.7

            The human genome has no uniformity. Apart from monozygous (identical) twins, no two individuals in the entire world share precisely similar genomic sequence. The human genome is also not static. In other words, minimal and substantive changes often arise with surprising frequency. Some of such changes are usually neutral and advantageous, while others might be detrimental, leading to decreased fertility or reduced survival of individuals.8 Also, since the underlying DNA sequences often get transferred from parents to children in a stable process, the genetic variations usually act as a mechanism for differentiating the members of one population from others.9

            The knowledge of human genome creates an understanding of the human species’ origin, the relationships between humans’ subpopulations, as well as the disease risks and health tendencies of individual humans.10 Over the past twenty years, the knowledge of the human genome’s structure and sequence has revolutionized or transformed several fields of study, including anthropology, medicine, and forensics.11


            Due to the current technological advancements that allow easy and high access to genomic information, the level or scope of applications of genomic information has significantly increased.12 Additionally, understanding the human genome’s origin forms a significant interest area for most researchers since the origin of the human genome reflects the evolution of humans.13

The availability of complete genomic databases for humans and other species has enabled researchers to determine the similarities and differences between the genomic information of individuals, human populations, and other species. From such observed similarities and differences, researchers can trace the human genome’s origin and determine how the human race or species has evolved and multiplied to occupy the Earth.14

            With the human genomic information at hand, today’s healthcare professionals can effectively practice predictive medicine, which contributes significantly to accomplishing the goals of preventive medicine. In fact, pre-symptomatic genetic diagnoses have allowed several people to live healthier or have longer lives. For instance, through the understanding of the human genome, the various mutations responsible for familial cancers of the colon and breast have been determined, a step which has enabled pre-symptomatic diagnosis of individuals belonging to at-risk families. Therefore, the knowledge of the human genome has made tremendous contributions to transforming the global healthcare sector.



Cotton, R. G. H. 2002. "The Human Genome Project and Genome Variation." Internal Medicine Journal 32 (7): 285-295. doi:10.1046/j.1445-5994.2002.00233.x.

Frazer, K. A. 2012. "Decoding the Human Genome." Genome Research 22 (9): 1599-1606. doi:10.1101/gr.146175.112.

Hood, Leroy, and Lee Rowen. 2013. "The Human Genome Project: Big Science Transforms Biology and Medicine." Genome Medicine 5 (9): 79-83. doi:10.1186/gm483.

[1] Frazer, K. A. 2012. "Decoding the Human Genome," 1599.

2 Ibid., 1601.

3 Ibid., 1603.

4 Cotton, R. G. H. 2002. "The Human Genome Project and Genome Variation," 285.

5 Ibid., 287.

6 Frazer, K. A. 2012. "Decoding the Human Genome," 1603.

6 Cotton, R. G. H. 2002. "The Human Genome Project and Genome Variation," 288.

7 Ibid., 289.

8 Ibid., 291.

9 Frazer, K. A. 2012. "Decoding the Human Genome," 1604.

10 Ibid., 1605.

11 Hood, Leroy, and Lee Rowen. 2013. "The Human Genome Project: Big Science Transforms Biology and Medicine," 79.

12 Frazer, K. A. 2012. "Decoding the Human Genome," 1606.

13 Hood, Leroy, and Lee Rowen. 2013. "The Human Genome Project: Big Science Transforms Biology and Medicine," 81.

14 Cotton, R. G. H. 2002. "The Human Genome Project and Genome Variation," 293.

August 09, 2023

Life Science



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