Genomic Medicine Essay

Excerpt from Essay :

Human Genome Project

Launched in 1990 as a collaborative initiative between the National Institutes of Health and the U.S. Department of Energy, the Human Genome Project completed its goal ahead of time despite the enormous challenges that were involved (Greene, 2006). The goals of the Human Genome Project included developing comprehensive genetic and physical maps of the human genome in order to determine the complete nucleotide sequence of the three billion base pairs that make up the human DNA and to identify the estimated 100,000 genes that are contained within the human genome (Greene, 2006). To determine the importance and implications of the HGP, this paper reviews the relevant literature, followed by a summary of the research and salient findings concerning this initiative in the conclusion.

Review and Discussion


How will research in the Human Genome Project further medical research? What disorders are most likely to benefit from the project?

To date, the Human Genome Project has identified more than 1,800 disease genes which has facilitated research into the etiology of genetic diseases (Human Genome Project, 2015). The Project has enabled researchers to identify the genes that are suspected of causing diseases far more rapidly than in the past, and more than 2,000 tests for various human conditions have already been developed. According to the Project's sponsors, "These tests enable patients to learn their genetic risks for disease and also help healthcare professionals to diagnose disease" (Human Genome Project, 2015, para. 3). Moreover, there are currently clinical trials underway for at least 350 biotechnology-based products using data developed by the Human Genome Project (Human Genome Project, 2015). Although a wide array of disorders are likely to benefit from the Project, the dramatic reductions in the costs of genetic testing have already identified the causes of diseases such as Kabuki and Miller syndromes, conditions that are rare (Human Genome Project, 2015).


How would you react to receiving a genetic test that states that you had an 85% chance of developing a debilitating or fatal condition? Be specific about the condition and how you would handle it.

Today, sickle cell disease is currently the most prevalent genetic-based hematological disorder in the world and the condition can affect anyone (Burnes & Antle, 2008). Approximately 2 million Americans currently suffer from this disorder (Sickle cell anemia, 2014). Assuming this writer received a genetic test that indicated an 85% chance of…

Sources Used in Document:


Burnes, D.P. & Antle, B.J. (2008, August). Mothers raising children with sickle cell disease at the intersection of race, gender, and illness stigma. Health and Social Work, 33(3), 211-

Greene, L.A. (2006, January). Human Genome Project information. Environmental Health

Perspectives, 109(1), 19.

Human Genome Project. (2015). National Portfolio Online Reporting Tools. Retrieved from

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