Countryman 1 Whitney Countryman Stephanie Maenhardt English 1010 5, December 2013 Understanding Differing Views of Genotyping and Personalized

Medicine Imagine you have just ventured out to the department store to find yourself a new pair of jeans. These jeans are made in a factory, cut to fit a pattern that will fit decently for most of the general public. As you search for your new pair of jeans you realize that nothing is quite right, they are all much too tight in some areas but loose in others. Your search continues but this is with no avail. All of the beautiful jeans are either too short, or too long nothing is quite right for you. If you decided to buy a pair of jeans that were too short your ankles might be very cold in the winter months, yet, if you buy jeans that are too long your jeans will become torn and tattered at the ends and might pose a risk of tripping. Neither of these options sit quite right with you so you decide to take a pair of jeans to the tailor. This tailor takes many measurements specific to your body and presents you with a pair of jeans that are not too loose, not too short, and not too long. They were made to fit your body just right. Imagine if this concept of customization could travel into other venues such as the medical field. This concept is not far off and could soon become wide spread in the medical culture. A changed world would result from this development and create a culture of medicine in which care and treatment was tailored to your genes. As I first realized that his was a place the medical world was creeping towards I thought it was a wonderful idea. Just as I realize that it can be pain staking, frustrating and sometimes nearly impossible process to find a pair of jeans that do not leave you with side effects of cold ankles or tripping, I realize that the much more pertinent of issue of health care leaving you with side effects is not something that

Countryman 2 should be so widely excepted. The concept of what this would really look like in the health care industry, what personalized health care truly was/is and what this new term meant, interested and intrigued me. This is especially so, because I am currently preparing myself to enter this field in the future. Personalize health care involves many concepts that are beyond my scope of knowledge at this time, but as I searched to find information about the topic I was lucky enough to find information about personalized medicine that was presented at a very basic level so that the general public might understand. To understand why personalized medicine might be desirable or viewed as a need in our society, we must first understand that just as in my previous example of jeans and the description of how they all fit and individual differently because of differing body types, we all have a different genetic makeup. Because of this fact, medicine, treatment and even things such as diet will effect each individual differently (The Personalized Medicine Coalition 2). For personalized medicine to take place, a geneticist must first look at an individuals specific genetic makeup. Once this is determined the physician can go about formulating an individual health plan that will work best for the individuals genetic and environmental pro-file. (The Personalized Medicine Coalition 1) This would also help decipher diseases that the individual is potentially predisposed to and aid them in making life style changes to best avoid these factors (The Personalized Medicine Coalition 1). Though most of the articles and sources that I found regarding the topic of personalized medicine were unbiased and educationally based, I did find slight variances in some points of view on the topic. In the article Ethical, Legal, and Social Implications of Genomic Medicine, in the New England Journal of Medicine the author Ellen Wright Clayton present points fear and describes a few legal cases past. Those that are wary of this new development fear insurance companies and what might be done with the genetic information of citizens. Insurers feel that if the genetic information of a person is available, they should have access to it. This is where the fear comes in to play. Many sit uneasy with the notion that insurers might reject persons from care because of the information a genetic analysis would

Countryman 3 divulge. Though in some locations, laws have been put into place to avoid this factor there is no mention within the law of the rate that must be charge. This means that though a person could not be turned away and deemed ineligible because of diseases that they are predisposed to, insurers are free to charge whatever rate they chose. This fact in reality would continue to decipher who could and who could not reasonably afford and receive health insurance. Clayton discusses many valid points in which genetic information could be miss used. In one particular real life scenario that she brought to light was an issue in which a healthy man applied for a trucking job. Upon review his genetic profile revealed that he was predisposed to a particular disease that in the future would disable him from even holding a valid drivers license. The question arises, should the man be hired? Or because of future ailments to come should he be overlooked as an applicant? This kind of power would ultimately keep certain individuals from being able to hold jobs and make a reasonable living. (Clayton) This is a scary thought that insurance companies and employers alike could chose not to allow you service or a job representative on your possible future health. Ethics would be a large issue as development of this technology furthers and becomes more accessible many laws and regulations made by the Food and Drug administration will need to be made. Another perspective that came to my attention was the fact that just as no test is perfect, that this unfortunately includes genetic testing. The accuracy in these types of tests is crucial because of the nature of what the test tells a patient. Genetic testing can be very hard to interpret and understand because of this it is of the utmost importance that the information in the test is accurate so that it does not get further construed by an inaccurate reading. These test can only be requested by a doctor one time, which increases the importance that this is done so correctly. A test looking at the genotype of individuals was marketed before approval. This presented inaccurate results which led to healthy women, who were under the impression that they were susceptible to ovarian cancer, undergoing an unnecessary procedures to remove their ovaries. This clearly could have grave repercussions in the

Countryman 4 medical field if proper care is not taken in the administration and reading of ones genetic makeup. Information whether a specific test has been approved by the FDA or not if available to physicians and the general public. This information is made public so that individuals can make informed decisions on each test. (Hamburg) This was very surprising to come to the realization of all the terrible things that could come of inaccurate information. In some cases these women having their ovaries removed could have saved their lives, and been a generous blessing to those that love them. Yet, in this light, this enabled them from living a normal life that they fill with family and children. There are many in the field of medicine that are vocal advocates of personalized medicine. The advancements coming our way excited them and they want to share the great benefits this technology could have on the lives of individuals. An article that I particularly in enjoyed is one that presented real life situations for its audience. It definitely tugged on your heartstrings and it presented the image of a woman who was very ill with a cancerous tumor, this woman was the mother of four children. Nothing has helped this woman and her chances are small but there is a new experimental medication on the market with a 5% chance of helping this woman. The drug is administered and the tumor begins to react. (Kean) This is the medical world today. Doctors review a patients case to the best of their ability and essential make estimations with their experience and wide variety of knowledge in what avenue to take to best help the patient. Often times this is successful, but other times it is not. This article continues and describes a doctor at his desk. He gets an alert on his computer of studies that suggest a specific genetic mutation with a high likelihood that this will become a chronic disease in the future. Because many of his patients genotype information is on his computer, he is able to access who has this mutation. He forwards those with the mutation and with premature symptoms for the disease he encourages to set up appointments to decide a life style plan in which would best help them avoid attaining a disease. For those that do not show symptoms, yet have the mutation, he sends an email to strongly encourage that they live a lifestyle that will detour from which they are at risk. This is future of

Countryman 5 medicine. (Kean) These advancements could change the medical field as we know it. This technology would allow doctors to decipher what changes individuals need to make in the lives that they lead to insure long term optimal health and avoid to the best of their ability diseases that they are predisposed to. As mentioned above, this was my favorite article to read. Because it presented the effects that this medical advancement could have in such a real way, I was able to internalize what is was saying and see how this growth would true benefit all. In my opinion personalized medicine is an incredible development. It has the ability to bless the lives of all that inhabit the earth. Many lives will be saved as medical treatment continues to advance in this manner and becomes more widely used. We all recall hearing about Angelina Jolie in the media lately when she decided to undergo a double mastectomy. She made this decision after coming to the knowledge that she was a carrier of the BRCA1 gene. It is situations like this where genotyping saves lives. No woman without this knowledge would have undergone such drastic measures to avoid a disease but, as she comes to the knowledge that she is at an 80 plus percent risk of disease development this surgery becomes more plausible and realistic. Many issues will arise as this becomes a more mainstream technology, but these loopholes can be blocked with laws and other jurisdiction. The FDA is currently working on parameters in which genotype information can be used, and I could only imagine will continue to do so as new and unforeseen issues arise. When the federal government created the national highway system, it did not tell people where to drive it built the roads and set the standards for safety. Those investments supported a revolution in transportation, commerce, and personal mobility. We are now building a national highway system for personalized medicine, with substantial investments in infrastructure and standards. We look forward to doctors' and patients' navigating these roads to better outcomes and better health. (Hamburg)

Countryman 6 The potential this has is untapped and has the ability to save and benefit many lives. I personally look forward to the day when medicine can foresee what my risk factors are and help me to live my life in a way that I can avoid these ailments. I look forward to the day where we have a healthier America because of this technology. I have truly enjoyed taking a glimpse into this world and it excites me for the possibilities of a near tomorrow.

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Annotated Bibliography Clayton, Ellen Wright. "Ethical, Legal, and Social Implications of Genomic Medicine." Ed. Alan E. Guttmacher and Francis S. Collins. New England Journal of Medicine 349.6 (2003): 562-69. New England Journal of Medicine. Massachusetts Medical Society, 7 Aug. 2003. Web. 23 Oct. 2013. This source discusses the concept of genomic medicine and describes what is it and how it would be used in real life situations. This source also gives detail of the publics fears concerning this technology and the possibility of it being used in a discriminative way. Hamburg, Margaret A., and Francis S. Collins. "The Path to Personalized Medicine." New England Journal of Medicine 363.4 (2010): 301-04. The New England Journal of Medicine. Massachusetts Medical Society, 22 July 2010. Web. 23 Oct. 2013. This source gives very helpful information about DNA profiling. It discuss the how it would be taken from concept to implementation and what this means for people and their health care. It presents the information in a factual and unbiased manner in attempts to truly educate the audience. Kean, Feinstein, and Mike Silver. "The Case for Personalized Medicine." The Personalized Medicine Coalition 3rd ed. (n.d.): 1-32. Personalized Medicine Coalition. 5AM Solutions. Web. 5 Nov. 2013. This source gives very helpful information about DNA profiling. It discuss the how it would be taken from concept to implementation and what this means for people and their health care. It presents the information in a factual and unbiased manner in attempts to truly educate the audience. "Personalized Medicine: An Introduction." The Personalized Medicine Coalition. 5AM Solutions, n.d. This article written by the PMC provides information regarding personalized Web. 5 Nov. 2013. medicine. It provides very basis, easy to understand information on what personalized medicine it. It would be most useful to any one learning about personalized medicine for the first time.