Genomic Medicine

¶ … 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 1) 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). 2) 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 developing sickle cell anemia, the first step would be to research the condition and identify ways to improve my quality of life and chances for survival.

Although there is no widespread cure available for sickle cell anemia, there are some promising treatments that are available that can help improve the anemic condition and reduce the problems that are associated with the condition's symptoms and complications in young people and adults (Sickle cell anemia, 2014). In some cases, blood and marrow stem cell transplants have been shown to provide a cure for the condition, but these treatments are only available for a small number of people (Sickle cell anemia, 2014).

3) What challenges face researchers and research administrators in conducting genetic trials? Notwithstanding the progress to date, the are several challenges concerning the optimal approach to analyzing the genetic information developed by the Human Genome Project and determining how the enormously complex components of the human body operate together in processes such as heart disease (Human Genome Project, 2015). In addition, there are some fundamental ethical issues involved in applying the results of the Project, and 3-5% of its annual budget is applied.