Wendy Wilson Spooner ~ Genetic Genealogist, Lic. G., LCoT
THE HUMAN GENOME PROJECT
-By Wendy Wilson Spooner
(Article adapted from a paper written by Wendy Wilson Spooner April 2014, for the American
School of Genealogy, Heraldry, and Documentary Sciences, a subsidiary of the International
College of Interdisciplinary Sciences)
All human genes together, are known as our “genome.” The task to complete a map and gain an understanding of human genes began a collaborative, international research program known as the Human Genome project (HGP). The HPG was produced as the natural culmination of the history of genetics research (An Overview of the Human Genome Project, 2014).
Although surprising to some, HPG roots can be followed to an initiative in the U.S. Department of Energy (DOE). Charged by Congress since 1945 to create new energy resources and technologies, and to pursue a deeper understanding of potential health and environmental risks posed by their production, studies were generated that have provided the scientific basis for individual risk assessments of nuclear medicine technologies. By 1990, DOE and the National Institute of Health had developed a plan which officially began a joint HGP. From the beginning, the HGP’s primary goal has been to produce a high-quality reference sequence for the entire human genome and to identify all human genes (Hart, 2002).
When the initial planning stage was completed, a joint research plan was published, “Understanding Our Genetic Inheritance: The Human Genome
Project, The First Five Years, FY 1991-1995.” The initial plan laid out
specific goals and a projected 15-year research endeavor (Hart, 85).
When the HPG officially began, rapid technological advances made acceleration possible to complete the project by 2003. The project’s specific goals were to “identify all the approximately 20,000-25,000 genes in human DNA, determine the sequences of the 3 billion chemical base pairs of human DNA, store this information in databases, improve tools for data analysis, transfer related technologies to the private sector, and address the ethical, legal, and social issues (ELSI) that may arise from the project.” (About the Human Genome Project, 2014).
Early work of the HGP was largely devoted to elucidation of the genome through improved technologies acceleration. Initial crucial steps for initiating the large-scale sequencing of the human genome included the development of less expensive, faster technologies for handling DNA - and building detailed physical and genetic maps. Rapid progress was enabled by the advent and
employment of improved research techniques, such as polymerase chain reaction, the use of restriction fragment-length polymorphisms, bacterial and yeast artificial chromosomes and pulsed-field gel electrophoreses (A Brief History of the Human Genome Project, 2014).
Surprises were revealed when the announcement was made in 2000 that the majority of the human genome had been sequenced. One such surprise was the relatively small number of human genes, as few as 30,000, and the complex architecture of human proteins when compared to their homologs (similar genes with the same function). For instance, fruit flies and roundworms; and the potential lessons to be learned by DNA repeat sequences (Brief History, Para. 15).
Completed in April 2003, the HGP gave the world for the first time, the ability to read nature’s complete genetic blueprint for the construction of a human being. The HPG’s significance to humanity begins with the potential applications, which are numerous, and include customized medicines, improved agricultural products, new energy resources, and tools for environmental cleanup. Through the amplified availability of personal human genome data and related analytical technologies, the HGP intends to train future scientists, study human variation, and address severe societal issues. Other significant outcomes of the HGP are goals to sequence the genomes of model organisms to help interpret human DNA, enhance computational resources to support future research and commercial applications, and to explore gene function through mouse-human comparisons (Hart, 81).
Another significant outcome of the HGP results is the continuous development of technology for processing DNA. The Ion Torrent Personal Genome Machine (PGM) now sequences 1 billion letters of DNA code in two hours, and is 100 times more powerful than previous models. There now exists even more efficient technology, with new advances made every year (Herper, 2011).
Furthermore, the importance of the HPG to the practice of medicine in particular is likely to be profound - there are numerous medical conditions found in adults and children that have a solid, predominant, genetic basis. Some common diseases such as mellitus, diabetes, cancer, heart disease, and the foremost mental illnesses, do not follow Mendelian inheritance patterns; however, sufficient evidence exists from twin and pedigree studies, which show that these disorders have important hereditary influences. Undeniably, for many common illnesses of developed countries, family history is the strongest predictor for risk (Collins and McKusick, 2001). Online Mendelian Inheritance in Man (OMIM) lists, multiple thousands of these conditions (MedGen, 2014).
In conclusion, the HGP founders formed a program to explore the Ethical, Legal, and Social Implications of new genetic knowledge (ELSI) and awareness of these issues. The goal is to predict problems that may surface and to create solutions. According to The National Human Genome Institute, the challenge of solving these issues belongs to more than just the scientists – we all have a responsibility to make sure that everyone benefits from genetic research and that no one is harmed (ELSI , 2014).
“About the Human Genome Project.” Human Genome Project Information Archive 1990-2003. April 10, 2014. Accessed April 10, 2014.http://web.ornl.gov/sci/techresources/Human_Genome/project/index.shtml.
Collins, Francis S., and Victor A. McKusick. “Implications of the Human Genome Project for Medical Science.” JAMA 285, no. 5 (February 7, 2001): 1.
Accessed April 11, 2014.http://dx.doi.org/10.1001/jama.285.5.540.
Hart, Anne. How to Interpret Your DNA Test Results for Family History. New York Lincoln Shanghai: Writers Club Press, 2002.
Matthew Herper, "Forbes," February 23, 2011, 1, accessed April 11, 2014, http://www.forbes.com/sites/matthewherper/2011/02/23/life-tech-pushes-speed-of-small-fast-dna-sequencer/.
“MedGen.” The National Center for Biotechnology Information. April 11, 2014. Accessed April 11, 2014. http://www.ncbi.nlm.nih.gov/omim/.
“National Human Genome Research Institute.” April 9, 2014. Accessed April 9, 2014.http://www.genome.gov/12011238.
Wendy Wilson Spooner - Genetic Genealogist, Lic. G.