The Human Genome Project (HGP) was the world’s collaborative effort to map and explore all 20,000-25,000 genes in human beings, otherwise known as the human genome ( “The Human Genome Project”, n.d.). This included the goal of making such information available and accessible to both health care professionals, as well as the public ( “The Human Genome Project”, n.d.). To this day, the fifteen year effort of the HGP has contributed and continues to greatly benefit many fields such as science, medicine, agriculture, the environment, forensics, and many more. It proposes new ideas and concepts about human genetics and pioneers in the new era of genomics, having its fair share of controversy with ethical issues due to its massive potential in the scientific world. Perhaps most importantly however, it has allowed researchers to further delve deeper into the pursuit of discovering the human biological identity.
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The research project was initiated by the National Institutes of Health (NIH) Director James Wyngaarden who along with various scientists, administrators, and science policy experts laid out the plans and foundation of the project ( “The Human Genome Project Timeline of Events”, n.d.). Coordinated by both the NIH and the U.S. Department of Energy, the national centre of HGP was finally established in October 1989 with James D. Watson as the first director (“What was the Human Genome project and why it has been important?”, n.d). The project finally began in 1990, involving partners from countries like the U.K, France, Germany, Japan, and China whom also contributed to the HGP (“What was the Human Genome project and why it has been important?”, n.d). The first few years of the project focused on developing technology and biological background, only after then to finally work towards DNA sequencing (Evans, 1998). Several goals involving mapping and DNA sequencing were set and completed over the next 15 years (“What was the Human Genome project and why it has been important?”, n.d). As specialized equipment and technology advanced, so did progress for the HGP which rapidly lead to its eventual completion in 2003 (“What was the Human Genome project and why it has been important?”, n.d).
The Human Genome Project’s sequence of the human genome is now easily available to the public via the internet, providing information about the location, structure, and organization of many human genes ( “What did the Human Genome Project Accomplish?” n.d). Most remarkably, it has allowed researchers to essentially understand “the blueprint for building a person!” (“What was the Human Genome project and why it has been important?”, n.d). In addition to this, genomes of several other organisms such as e.coli, yeast, the fruit fly, and the roundworm have also been sequenced ( “What did the Human Genome Project Accomplish?” n.d). This would allow researchers to compare these with the human genome and hopefully discover the roles and functions of a particular gene ( “What did the Human Genome Project Accomplish?” n.d). Along with the use of other genomes, the HGP has also pointed out how closely related the human genome is to several other organisms. Humans for instance have 3 billion base pairs, and only a few of those are unique to a person ( Lee, 2018). This could make each human 99.9% genetically identical to each other ( Lee, 2018). For chimpanzees, the genetic similarity would be 96%, and a cat would be 90% ( Lee, 2018). These similarities are attributed through a shared ancestor dating back about approximately 80 million years ago ( Lee, 2018).
The applications of sequencing the human genome holds practically universal potentials. It can benefit various fields from molecular medicine, pharmacogenomics, disease research and the identification of hereditary diseases and cancer-causing mutations, forensic science, agriculture, anthropology, and researching evolution just to name a few ( “Human Genome Project”, 2019). Some potential future applications would include gene therapy, biomedical research, and perhaps cures for incurable diseases (Evans, 1998). The medical field has especially received profound benefits from the scientific resource the HGP has provided. There would be a shift away from general blockbuster drugs to much more promising, personalized, and precise medicine ( “Genomics and Medicine”, n.d.). Diagnosis and the identification of certain diseases and cancers can now be made more accurately and treated much more effectively ( “Genomics and Medicine”, n.d.). Genetic testing for hereditary and genetic diseases can now be screened and detected before a child is even born ( “Genomics and Medicine”, n.d.). Presently, cell-free circulating DNA are being explored as potential biomarkers for cancers, giving insights into the tumor and decide possible treatments ( “Genomics and Medicine”, n.d.). These instances are only a few of the HGP’s contributions to both the medical and scientific fields, with many more to add in the future.
With more than a decade since the publication of the HGP’s completed human genome, the National Human Genome Research Institute has no plans of halting further research. According to the current NHGRI’s director Eric Green, work has been made to further understand the genome, how it works, how they are associated with diseases, and how this knowledge can be used and applied to science and medicine ( Singer, 2012). The research institute is now analyzing the numerous data that they have accumulated and are in the process of actually analyzing them ( Singer, 2012). Green also acknowledges the issues revolving around information confidentiality and security ( Singer, 2012). However there are also other ethical issues that arise including individual consent regarding the dissemination of their genetic information, science policies, and workplace screening which could involve insurance companies (Murray, 1991). These issues are especially concerning in an era where everyone’s information are kept in, exposed to, and are vulnerable through technology. There is also the possibility of reproductive, psychological, social, and political impacts or consequences involving genomic knowledge ( Murray, 1991).
Without a doubt however, the Human Genome Project has contributed greatly to the field of genomics, science, medicine, and other applicable applications. It has allowed humanity to realize their interconnections with other humans and other organisms. It has also allowed for the exploration of their biological makeup and what it could mean for them medically, psychologically, socially, and emotionally. Medicine has benefited from the valuable scientific resource, giving hope to many individuals with more complicated diseases for potential cures and personalized treatments. Much like any new breakthroughs in the scientific community, some elements of the HGP can raise ethical, moral, and controversial issues surrounding the now widely available genomic information and knowledge. Nevertheless, the HGP continues to be a leader in the field of genomics and a shining light for the medical field.
References
Evans, G. (1998, April 24) The Human Genome Project: Applications in the Diagnosis and Treatment of Neurologic Disease. Retrieved from https://jamanetwork.com/journals/jamaneurology/fullarticle/774275s
Genomics and Medicine. (n.d.). Retrieved from https://www.genome.gov/health/Genomics-and-Medicine.
Human Genome Project. (2019, November 12). Retrieved from https://en.wikipedia.org/wiki/Human_Genome_Project#Applications_and_proposed_benefit.
Human Genome Project Timeline of Events. (n.d.). Retrieved from https://www.genome.gov/human-genome-project/Timeline-of-Events.
Lee, S. (2018, April 3). Our DNA is 99.9% the same as the person next to us – and we’re surprisingly similar to a lot of other living things. Retrieved from https://www.businessinsider.com/comparing-genetic-similarity-between-humans-and-oth er-things-2016-5#cats-are-more-like-us-than-youd-think-a-2007-study-found-that-about-90-of-the-genes-in-the-abyssinian-domestic-cat-are-similar-to-humans-3.
Murray, T. H. (1991, January). Ethical issues in human genome research. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/1825074#: ~:targetText=Presymptomatic testing, carrier screening, workplace,number of important ethical questions.
Singer, E. (2012, October 22). The Future of the Human Genome. Retrieved from https://www.technologyreview.com/s/422670/the-future-of-the-human-genome/.
The Human Genome Project. (n.d.). Retrieved from https://www.genome.gov/human-genome-project.
What did the Human Genome Project accomplish? – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/primer/hgp/accomplishment s#:~:targetText=It also identified the locations,about their structure and organization.&targetText=By studying the similarities and,genes are critical for life.
What did the Human Genome Project accomplish? – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/primer/hgp/accomplishment s#:~:targetText=It also identified the locations,about their structure and organization.&targetText=By studying the similarities and,genes are critical for life.
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