Human Genome, Potential Use of Genome Genetic Variation in Health Screening - Essay Example

Case Study Table of Contents I. Human Genome, Potential Use of Genome Genetic Variation in Health Screening 3 II. Support ment for 23and Me, Whythe Service Should Be Allowed to Go On 6 III. Support Statement for the FDA, Why the Personal Genome Service Should Not Be Sold at This Time 7 References 8 I. Human Genome, Potential Use of Genome Genetic Variation in Health Screening The human genome refers to that comprehensive set of genes, or hereditary blueprints each composed of hundred thousands of bases of DNA, that are the inheritance of human beings from their parents, and that permeate virtually every cell in a human being. Individual genes contain directions for specialized protein production in human cells, and these include production instructions for proteins of structure as well as enzymes. The human genome itself is made up of gene pairs in the tens of thousands. With an individual being the inheritor to a gene from each of a persons parents. Chromosomes are the structures that resemble strings on which these genes are assembled and ordered, and the inheritance from parent to child consists of two chromosome sets each having 23 chromosomes, and with one set contributed by the father and the mother each. Among these 23 chromosomes, one is a sex chromosome set, either X, X or X, Y, plus the other 22 sets of chromosomes (New York State 2011). To be more specific, there are around 3×109 DNA base pairs in the human genome, and the variations in the human genes guarantee that there will never be two individuals who will ever have exactly the same genetic profile, with the exception of twins who are identical in eery way genetically speaking. A random pairing of any two persons and a comparison of their genes will have on average variations of about 1 in 1000 DNA base pairs. In all, two randomly paired persons will have base pair variations for 6×106 base pairs, a large number that justifies automation for the analysis of such variations. The numbers are large enough that other means of testing for variations in genetics between people other than automation are not feasible (National Institutes of Health 2007). The term for differences in genes is polymorphism and in any random pair of human beings the polymorphism that is most dominant is between unitary base pairs. This most common form of polymorphism is called single-nucleotide polymorphism, or SNP. That said, these differences are dwarfed by the similarities in the genetic makeup of all human beings, and these commonalities are the common heritage of entire human species. The available research also shows that most of the genetic variations occur within populations as compared to genetic variations among different populations, attesting to the fact that the human race is an interbred race. Stated another way, the genetic variations attest to the reality of interbreeding of the human populations through time, all the way to the present. Stepping away further and relating the genetic makeup of human beings compared to other living beings on earth, one sees too that the genetic variations between humans and the rest of life on the planet are small. Stated another way, humans share a common genetic pool with the rest of life on earth to a large extent (National Institutes of Health 2007) The study of variations in human genetics has value in terms of the ability of such studies to unearth the genetic foundations of diseases and to better understand the processes and dynamics of the way such genetic variations contribute to the development of a host of the most chronic and intractable diseases known to man, including cancer, autoimmune diseases like diabetes, and cardiovascular diseases such as heart ailments and strokes. The prior studies and insights into the role that genetics and genetic variations play in the development of abnormalities in children springing from abnormalities in the sex chromosomes of their parents have impact on the desirability of genetic variation research in unearthing and tracing other diseases back to a patients genetic inheritance. The mode of cell reproduction and growth via instructions encoded in genes also promise to unlock the secrets of abnormal cell growth, which is what cancer is in essence (National Institutes of Health 2007). The literature notes that some genetic variation are harmless, and some confer advantages, as in the case of genetic variations in blood that allow some people to be resistant to malaria. On the other hand, some variations in genetics go hand in hand with the development of various human diseases, with one-gene variations attributed to diseases such as Huntingtons disease and disease of the sickle cell variant, and so-called “multifactorial” diseases being caused by multiple genes reacting to the environment in varied ways. The new understanding is that all diseases in men, save physical trauma-induced diseases, have genetic implications or causes or underlying factors. This insight has implications for the screening of individuals for vulnerabilities to certain condition. The concept of genetic risk takes off from this insight that mutations in genes occur in all people, anywhere from a few mutations to as many as 50 mutations on average. These mutations in turn expose different people to different diseases, and this is what genetic risk pertains to. Investigations in genetic variation are unearthing insights into the way certain mutations and variations in genes, as screened in birth and in other stages of life, impact the way different people respond to the environment and develop certain diseases, so that such studies have implications for treating diseases, and shielding people from possible risks to their health based on their genetic profiles, together with administering the right kind of treatments/care (National Institutes of Health 2007). II. Support Statement for 23and Me, Why the Service Should Be Allowed to Go On There are many reasons for the continued availability of the Personal Genomic Service of 23andMe, chief among them that the service empowers people to make intelligent decisions relating to their health. An empowered population will make better choices in health, and will be proactive in taking care of themselves. They will be more engaged with the system. Imagine the efficiencies that can be had and from targeted tests aided by the results of the personal genome service. This can potentially save the American health care system hundreds of billions of dollars in the long term. The insurance system will be more efficient too, in terms of being able to adequately cover the health needs of Americans and ascertaining the proper premiums to be paid for certain genetic profiles. This single service has the potential to cut through the budget deficit in the long term, and allow the US government to leverage the financial gains to better health care and other aspects of governance (Greenfield 2013; Khan 2013). The other reason has to do with the way the service has the potential to deepen our understanding of the human body and disease. The database of genetic profiles from millions of Americans can be used to better diagnose disease, and to craft better drugs and interventions that can save lives, ease suffering and improve overall health outcomes for the entire American population and the rest of the world. This database can be game changing in terms of revolutionizing the way we understand disease and wellness. In the long term, this is the biggest single gain to be had from the continuance of this service (Greenfield 2013; Khan 2013). III. Support Statement for the FDA, Why the Personal Genome Service Should Not Be Sold at This Time There are many reasons for discontinuing the marketing and sale of the Personal Genome Service of 23andMe, and they have to do with the need to better understand how the service will affect ordinary Americans in the long term. The service is disruptive, and information in the wrong hands can be used in ways that undermine the American health care system. There is the potential for instance for the service to be used to screen people from certain geographies, professions, and human associations, and make the test the basis for a new kind of discrimination, not based on color but on ones genetic makeup. There too is the risk that people will use the information to self-medicate or to intervene in their own health care, going against the judgment and advice of more qualified health professionals. There too is the danger that the information will be used to supplant more rigorous and mainstream diagnostics, with implications for the quality and the appropriateness of health care interventions for different health care conditions (Seife 2013; Gray 2013). The bigger worry, aside from the above, is the potential for the information gathered from the service to be used and abused by the holder of that information, namely 23andMe itself. The company has stated overtly that it aims to gather health genetic information to build a database that it can mine for insights in aid of better health care. While noble, this aim can be subverted and used for commercial purposes, such as say marketing new drugs targeted at individuals, whose genetic information would make them targeted markets for these new drugs, to the detriment of privacy rights among other things (Seife 2013; Gray 2013). References Gray, T. (2013). FDA to 23andMe Founder Anne Wojcicki: Stop Marketing $99 DNA Test or Face Penalties. Fast Company. [Online] Available from: http://www.fastcompany.com/3022208/fda-tells-23andme-founder-anne-wojcicki-to-stop-marketing-99-genetic-test-or-face-penalties [Accessed 3 March 2014] Greenfield, R. (2013). Why 23andMe Terrifies Health Insurance Companies. Fast Company. [Online] Available from: http://www.fastcompany.com/3022224/innovation-agents/why-23andme-terrifies-health-insurance-companies [Accessed 3 March 2014] Khan, R. (2013). The FDAs Battle With 23andMe Wont Mean Anything in the Long Run. Slate. [Online] Available from: http://www.slate.com/blogs/future_tense/2013/11/25/fda_letter_to_23andme_won_t_mean_anything_in_the_long_run.html [Accessed 3 March 2014] National Institutes of Health (2007). Understanding Human Genetic Variation. NCBI/NIH Curriculum Supplement Series [Internet]. [Online] Available from: http://www.ncbi.nlm.nih.gov/books/NBK20363/ [Accessed 3 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 3 March 2014] Seife, C. (2013). 23andMe is Terrifying, but Not for the Reasons the FDA Thinks. Scientific American [Online] Available from: http://www.scientificamerican.com/article/23andme-is-terrifying-but-not-for-reasons-fda/ [Accessed 3 March 2014] Read More