Few scientific quests have sought to unravel the essence of what makes us human as the Human Genome Project. The Human Genome Project (HGP) began with the US Department of Energy launching a study to detect genetic mutations about atomic bomb survivors in Japan. Eventually, the National Institute of Health joined, along with a collection of countries across the globe, into what became a public consortium by the Human Genome Organization. HGP officially began in 1990 with a completion goal of 2005, and thus researchers set up to map the scope of homo sapien DNA, the code that determines our traits.
Through HGP, scientists uncovered various discoveries about genetics. One such finding was that human DNA isn’t as unique as we originally thought. The genomes of people who are not closely related to each other like siblings or parents are estimated to be different by about 1 in every 1,200 to 1,500 bases. What this means is that if we consider a stretch of DNA having anywhere between 1,200 to 1,500 bases, we would expect to find one difference between the sequences, and this difference could be as small as a single letter change or single nucleotide polymorphism, or as large as differences in the number of copies of certain sections of DNA, also known as the copy number variations. Additionally, nearly 50% of our DNA is similar to that of other organisms, with more than 40% of our proteins being similar to those of flies and worms.
Scientists also found out that genes are not evenly spread out across the 24 human chromosomes, and that some regions have many genes clustered together called rich neighborhoods, while others have few genes, known as desert areas. These desert areas consist of 20% of our genetic code, and the other 80% is made up of clustered neighborhoods. Moreover, the human genome has around 20,000 genes for protein building, which is only 2% of our total DNA. This extremely small percentage was the biggest disappointment for the scientists of the HGP, as they had hoped there would be over 100,000 genes in our genome. This discovery challenged the idea that each gene makes only one protein, and eventually led researchers to understand that the complexity of humans isn’t solely determined by the number of genes, but rather by the different ways in which genes code for proteins.
Today, we can understand that while the Human Genome Project didn’t address all the expectations and ambitions of earlier scientists, it also forever changed the landscape of the study of genetics. Through the HGP, researchers established large databases of genetic data and published to the world the human genome sequence, ensuring that the genome can be accessible at our fingertips. Moreover, in the late 1980s, computers were relatively simple, but by the time the HGP had finished, we had the internet and powerful computers to handle all this genetic data. This led to a new era of digital biology, where scientists and clinicians could analyze vast amounts of genetic information.
However, with genetic research also comes various ethical implications. One is about who should own and control genetic data – if researchers and healthcare providers should have access to it for genetic studies and patient care, there is also the issue of how ethical it is for companies to commercialize and profit from this data, especially if they sell the information to third parties. Questions around who can patent genes and genetic technologies arose and the impact this can have on genetic research and healthcare. Moreover, with sequencing the entire human genome, there also needs to be safeguards to protect the privacy and confidentiality of the participants’ genetic information from data misuse or unauthorized access. Lastly, there needs to be equitable access to the benefits of genetics research, ensuring that people of marginalized communities are not only participating in the studies, but also receive the advanced healthcare and medicine that emerges from these discoveries.
The lessons we’ve learned from the Human Genome Project can guide us to improve our knowledge of genetics and conduct genomic research responsibly and ethically. Moreover, by understanding how our knowledge of the building blocks of humanity have evolved over time, we can develop a greater appreciation for how far science has progressed.
Sources:
Collins, F. S. (1999). Medical and societal consequences of the Human Genome Project. New England Journal of Medicine, 341(1), 28–37. https://doi.org/10.1056/nejm199907013410106
Gibbs, R. A. (2020). The Human Genome Project Changed Everything. Nature Reviews Genetics, 21(10), 575–576. https://doi.org/10.1038/s41576-020-0275-3
Moraes, F., & Góes, A. (2016). A Decade of Human Genome Project Conclusion: Scientific Diffusion about our genome knowledge. Biochemistry and Molecular Biology Education, 44(3), 215–223. https://doi.org/10.1002/bmb.20952
Watson, J. D. (1990). The Human Genome Project: Past, present, and future. Science, 248(4951), 44–49. https://doi.org/10.1126/science.2181665
