Human Genome, Genome Genetic Variation, and Health Screening Use - Case Study Example

Human Genome: Case Study Table of Contents I. The Human Genome, Genome Genetic Variation and Health Screening Use 3 II. Support for the Continuation of the Personal Genome Service of 23andMe 6 III. Support for the Discontinuation of the 23andMe Personal Genome Service 7 References 9 I. The Human Genome, Genome Genetic Variation and Health Screening Use In essence the human genome is constituted by three billion nucleotide components making up a sequence and ordered in molecules of DNA. This DNA ordering is represented by the double helix. These nucleotides are classified into one of four types represented each by a letter. Those four nucleotide types are guanine, thymine, adenine and cytosine, or G, T, A and C respectively. There are in all 20 types of amino acids that are each represented by a conglomeration of nucleotide triplets, which means that a triplet of nucleotides contain the code for protein building, which in turn form the basis of the human physiology as well as peculiar traits in behavior and the likelihood of contracting various diseases, among others. A gene is one DNA molecule segment corresponding to the coding for one complete protein. 23 different types of DNA molecules or chromosomes constitute the entire human genome. Put another way, the genome of a species is the total set of chromosomes that are constituted to make up that species, and the human genome is the set of chromosomes that together define the human species. Genomics in turn is the investigation into the human genome and the definition of genomes in general in terms of being able to totally describe the genomic makeup of species and how the genomic characteristics translate into species characteristics such as physiology and the vulnerability of particular members of the species to certain conditions and diseases (Center for Biomolecular Science and Engineering 2014; Little et al. 2003; Nature Education 2013). Genetics meanwhile in general refers to the scientific investigation into differences in genes that have been inherited from parents to offspring, and human genetics is this study directed towards the human species (National Center for Biotechnology Information 2007; Saha 1998; New York State 2011; The 1000 Genomes Project Consortium 2012; Jha 2012; Centers for Disease Control and Prevention 2013; Wadhwa 2014). Genetic variation is simply the variation in the genetic makeup among human beings. Variations are said to be small in relation to the total genome for all humanity, with variations between any two random human beings just accounting for 01. percent of their total base pairs. Among populations too, genetic variation is very small and below that which would classify peoples of different races as subspecies, indicating that the global population is just a single continuous genetic pool that interbreeds through time. On the other hand, a small portion of genetic variations among human beings are significant, in that they either confer advantages to people versus their environments, or else that they predispose some people to different kinds of diseases. Genetic variation is advantageous for instance for people who because of a genetic variation allow them to withstand malaria plagues in an environment, and make some people better able to resist infection with the AIDS virus. Recent studies for instance also associate historical resistance to the plague-causing bacterium to a gene mutation that at present also seems to shield people with the genetic variation from the ravages of AIDS and its complications. Early medical and academic literature on this have pointed out that there are single-gene variations that are causally linked to the development of certain diseases in human beings, among them cystic fibrosis and sickle cell disorder, as well as Huntingtons. On the other hand, as research progresses, the genetic variation bases of a range of other chronic and intractable modern diseases, from psychological diseases such as bipolar disorder and schizophrenia, to cancer, diabetes and cardiovascular diseases, are being established. Meanwhile, as the research also moves forward, it is increasingly clear that a host of other diseases have not just one basis in genetic variation nor in just one set of environmental conditions, but there are various genetic variations teamed up with various environmental constraints that together can give rise to disease. This is a multifactorial reality that breeds disease and which has genetic variations at their root. New research meanwhile is uncovering genetic foundations for diseases in the thousands, and that previously incurable diseases such as autism are becoming linked to genetic factors as well and to genetic variations in human beings (Wadhwa 2014; Dougherty 2013; Little et al. 2003; Saha 1998; National Center for Biotechnology Information 2007). These latter points suggest a very compelling value proposition for genetics testing and the study of genetics and genetic variations in the field of health screening. The growing body of research indicates that genetic variations can pinpoint disease predisposition, environmental advantages, and a host of correlated factors and permutations of genetic makeup and environment. Potential couples too can be screened for the likelihood of offspring being vulnerable to certain conditions. The likelihood for instance of people breeding children with autism, to cite just one example among thousands of emerging diseases that can now be predicted from the insights into genetics research, can be known. In terms of screening and targeting interventions, both to treat or to mitigate the risks of diseases developing/emerging, the value of genetic research is tremendous. Moreover, if we are to believe the arguments from 23andMe, the insights into genetics and the genetic profile of individuals in terms of being susceptible to certain conditions, such as Alzheimers for instance, can translate to health care services that are efficient, targeted, personal, and ultimately cost-effective, in comparison to the current state of affairs in medicine, which is arguably like wading in the dark compared to health care in the age of genomics (Wadhwa 2014; Dougherty 2013; Little et al. 2003; Saha 1998; National Center for Biotechnology Information 2007; Kiss 2014). II. Support for the Continuation of the Personal Genome Service of 23andMe The FDA would do well to support the continuation of the Personal Genome Service of 23andMe, and to see that the service, far from harming consumer interests and putting them at risk, empower them to make intelligent decisions regarding their health. The service is cheap and the science behind it is proven. People who use the service get back invaluable insights into the likelihood that they will contract certain diseases and conditions, that otherwise they are unable to determine on their own. The results also add to the body of knowledge that families have regarding the susceptibility of their blood lines to certain diseases, and so are able to act, as a family and as a clan, to mitigate the risks of contracting certain conditions that show up as predispositions in the 23andMe testing. Also consider that far from causing undue distress and from prompting customers to take drastic actions that harm themselves and the healthcare system, the data suggests that on the contrary people do not act adversely on the basis of their test results. More than half do nothing at all, according to the statistics, while among those who do something, less than five percent actually alter their treatment protocols, if they have any, and they do that in collaboration with their doctors. Moreover, the biggest impact of the tests seem to be that for majority of those who do act on the results, the interventions are in the area of improved diets and exercise. In other words, the data suggests that the service prompts people to make healthier life choices in order to mitigate the disease risks that show up in the 23andMe Personal Genome Service tests. Finally, the service should be allowed to continue because, as 23andMe asserts, the tests results can be used to craft personalized and targeted health interventions to patients efficiently and at lowered costs (Kiss 2014; Johnson 2014). III. Support for the Discontinuation of the 23andMe Personal Genome Service The 23andMe personal genome service should rightfully be disallowed from continuing at the present time, given the large potential impacts and implications of the continued use of the service on the American health care system and the lives of those who undergo the testing, together with their families and communities. First as the FDA notes, while the test itself does no harm to the customer physically, the results on the other hand can prompt those customers to act in ways that in the end harm them. For instance, the FDA notes that in the event that a customer is tested positive for a gene that triggers cancer, the test itself will not do harm, but the patient on the other hand can initiate actions such as undergoing preventive interventions that can be costly and that can put the patient in harms way in the long run. This is just an example out of many. There may be ethical considerations too with regard to privacy rights, and how confidential testing data can be manipulated and used for profit, and for things that customers do not give express permission for. It is no secret that since the test will hand over information to 23andMe relating to the genes of its customer pool, 23andMe can use that data to turnaround and profit from the insights from that data. The legislation and the actual experience of the community relating to this groundbreaking arrangement may not be adequate to deal with the fallout from privacy breaches of this nature. Then too the very accuracy of the tests, though backed by science, have not been vetted for a considerable amount of time, and so given this and the other factors cited above, it may be imprudent to hastily move forward with this and to disregard calls for caution and closer scrutiny (Klein 2013). References Center for Biomedical Science and Engineering (2014). What is the Human Genome? University of California Santa Cruz. [Online] Available from: https://cbse.soe.ucsc.edu/research/human_genome [Accessed 14 March 2014] Centers for Disease Control and Prevention. (2013). Genomic Testing. Public Health Genomics. [Online] Available from: http://www.cdc.gov/genomics/gtesting/ [Accessed 14 March 2014] Dougherty, M. (2013). Understanding Autism Through Genetics. Actionbioscience. [Online] Available from: http://www.actionbioscience.org/genomics/dougherty.html [Accessed 14 March 2014] Jha, A. (2012). Genomes project publishes inventory of human genetic variation. The Guardian. [Online] Available from: http://www.theguardian.com/science/2012/oct/31/genomes-project-inventory-human-genetic-variation [Accessed 14 March 2014] Johnson, C. (2014). 23andMe: Why Policymakers Should Set the Genetic Testing Company Free. The Daily Beast. [Online] Available from: http://www.thedailybeast.com/articles/2014/02/04/23andme-and-me-why-policymakers-should-set-the-genetic-testing-company-free.html [Accessed 14 March 2014] Kiss, J. (2014). 23andMe admits FDA order significantly slowed up new customers. The Guardian. [Online] Available from: http://www.theguardian.com/technology/2014/mar/09/google-23andme-anne-wojcicki-genetics-healthcare-dna [Accessed 14 March 2014] Klein, E. (2013). Should the FDA stop you from scaring yourself with 23andMes DNA test? The Washington Post. [Online] Available from: http://www.washingtonpost.com/blogs/wonkblog/wp/2013/12/06/should-the-fda-stop-you-from-scaring-yourself-with-23andmes-dna-test/ [Accessed 14 March 2014] Little, J. et al. (2003). The Human Genome Project Is Complete. How Do We Develop a Handle for the Pump? American Journal of Epidemiology 157 (8). [Online] Available from: http://aje.oxfordjournals.org/content/157/8/667.full.pdf+html [Accessed 14 March 2014] National Center for Biotechnology Information (2007). Understanding Human Genetic Variation. NIH Curriculum Supplement Series/NCBI Bookshelf. [Online] Available from: http://www.ncbi.nlm.nih.gov/books/NBK20363/ [Accessed 14 March 2014] Nature Education (2013). Genomics Enables Scientists to Study Genetic Variability in Human Populations. Scitable. [Online] Available from: http://www.nature.com/scitable/topicpage/genomics-enables-scientists-to-study-genetic-variability-6526364 [Accessed 14 March 2014] New York State (2011). Genetic Testing and Screening in the Age of Genomic Medicine. New York State Department of Health. [Online] Available from: https://www.health.ny.gov/regulations/task_force/reports_publications/screening.htm [Accessed 14 March 2014] Saha, M. C. (1998). Human Genetic Screening. North Dakota State University. [Online] Available from: http://www.ndsu.edu/pubweb/~mcclean/plsc431/students98/saha.htm [Accessed 14 March 2014] The 1000 Genomes Project Consortium (2012). An integrated map of genetic variation from 1,092 human genomes. Nature 491 56-65. [Online] Available from: http://www.nature.com/nature/journal/v491/n7422/full/nature11632.html [Accessed 14 March 2014] Wadhwa, V. (2014). The triumph of genomic medicine is just beginning. The Washington Post. [Online] Available from: http://www.washingtonpost.com/blogs/innovations/wp/2014/03/13/the-triumph-of-genomic-medicine-is-just-beginning/ [Accessed 14 March 2014] Read More