technology has revolutionized society: communication, transportation, commerce, and especially medicine. . Ironically, for centuries and still in Oriental Medicine, healthcare was and is tailored to the individual. Even the Greek Physician Hippocrates wrote that he prescribed sweet elixirs to some and astringents to others depending on their individual condition (Pray, 2008). 21st century medicine, though, is more about an individual person's genetic code, and is made possible by advances in genetic technology and engineering. This is partially due to the Human Genome Project, a massive program completed in 2003 that focused on the identification of the individual genes that make up human DNA with the overall hope that it would initiate genomic medicine -- healthcare delivered based on the individual's medical history and genetic profile (About the Human Genome Project, 2011). Traditionally, medicine diagnoses human illnesses based on quantitative and qualitative signs and symptoms. With the advent of genetic technology, though, predispositions to certain diseases prior to onset may aid patients and physicians in diagnosis and treatment. There are a number of practical, legal and ethical issues that surround genetic testing and, like many new technologies, are quite controversial.
Patient Background: Ms. Brown, a 37-year-old female, reported a mass during a self-breast exam in 2006. A mammogram found suspicious findings, and subsequent biopsy showed atypical ductal hyperplasia. Brown then had a breast lumpectomy and the lump was benign. However, in 1996 she underwent a total abdominal hysterectomy and took hormone replacements until 2006, then the mass was identified. She tried Evista therapy, but stopped based on side effects. Her family history shows that a grandmother and three cousins on the paternal side had some type of "female cancer," and her grandmother was diagnosed with breast cancer while she was in her 40s. Other members of her family had ovarian or other cancers (Jones-Zschaebitz and Lancaster, Chapter 11).
Question 1 - There are numerous advantages one might experience because of personalized medicine. Doctors will have the ability to make more informed medical decisions with a higher probability of success in their diagnosis by using more targeted therapies. Preventive medicine will advance and be the standard -- predicing disease instead of reacting to it. Additionally, there are likely to be huge costs savings to the medical paradigm in that earlier disease intervention allows for earlier, and less aggressive, treatments. Understanding and using a prevention template will also reduct hosptialization costs since most individuals will have a better understanding of their own vulnerabilities, and take steps to prevent them (Personalized Medicine - An Overview, 2011).
There are also negatives to personalized medicine, including, but not limited to a number of legal issues that are now working their way slowly through the Court System. These include liability issues, training, disrimination, and even the fictionalized potential society in which a genetic hierarchy emerged that deemphasized ability, aptly dramatized in the movie Gattaca (Gattaca, 1997). Genetics, in fact, might become the new discriminatory tool, with someone who has but a predisposition to a certain malady being relegated into a sub-societal position. Indeed, there are also ethical issues that will be challenging as personalized medicine develops. How will patient privacy remain protected, will the state require genetic information as part of a person's generalized file, and who might have access and for what reason to a person's genetic map? (Lea, et al., 2011). Indeed, the situation becomes complex when we ask if the patient had a teenage daughter: what information do we share, or do we simply counsel the patient to have regular exams, particularly in the late 20s and early 30s period?
Question 2 - Genetics, in fact, might become the new discriminatory tool, with someone who has but a predisposition to a certain malady being relegated into a sub-societal position. Indeed, there are also ethical issues that will be challenging as personalized medicine develops. How will patient privacy remain protected, will the state require genetic information as part of a person's generalized file, and who might have access and for what reason to a person's genetic map? (Kelly, 2008).
This issue focuses directly on some of the basic principles of medical ethics: to inform, to allow for uncoerced descisions, and to allow the dissemination of needed information to the patient and/or patient's family. The subject of medical ethics remains complex; it is not just about what we can do medically, but what we should do. While the Hippocratic Oath indicates we should "do no harm," we must, as moral human beings decide if harming someone is limiting their possibilities. Surely, history has taught us that as we grow in technological wisdom, so too should we not also grow in compassionate care? (McGrath and Forrester, 2006).
For example, the principle of autonomy in medical ethics holds that a rational individual must be allowed to make appropriate and informed decisions. . One must be responsible for one's own actions, and the decisions one makes must be respected by others. Within the healthcare field, this central premise of informed consent, particularly after the horrors revealed at the Nuremberg Trials ensures that the patient's understanding of the procedure be at the heart of all care; and if the patient is unable to understand, then an adult member of the designated family (O'Neill, 2002, 16-17). Further, research shows that the patient's literacy level, language ability, and cognitive skills have an important effect on the patient's ability to comprehend medical information. If the patient's first language was not English, it would be more ethical to find a translator in that native language to explain any issues revolving around genetic testing. If the patient had a lower literacy level, or was cognitively impaired, then the situation would need to be handled with the consult of a psychologist to ensure that the information required was given at an appropriate level. If, in fact, the cognitive or literacy levels were too low for a robust understanding of the issue, then either another family member or caregiver should be brought into the consult (See: Moon, et al., 1998).
Question 3 -- As a professional caring for family members who opt to obtain genetic testing, there will be a number of moral and ethical, as well as practical, issues surrounding the results. While HIPPA regulations keep medical information private, it is likely that within family dynamics, those who were found to be genetic mutation carriers would likely share that information - depending on family dynamics. As such, there might be a polarization of family issues: those without mutations might view that those with mutations should not have children, or should opt to try to prevent the onset of the potential issue. The family could become antagonistic towards one another; or could take the opposite tract and become far closer and more supportive. An additional discriminatory barrier for the family might surround employers or insurers, even with adequate legislation to protect them. Some people may find out that they are predisposed to certain diseases, but these diseases may or may not manifest themselves for year, or even decades. There may be considerable psychological stress on these people. Additionally, in 2008, the Genetic Information Nondiscrimination Act was signed into law based on the fear of discrimination. However, the act does not cover life or long-term care insurance, and the military is also exempt (NPR, 2012; Public Law 110-233, 2008).
Regardless of the dynamics of the family, it would be helpful to refer psychological counseling for the family and for those individuals who might be having a difficult time with the information gleaned from the tests. Certainly, working with the family, it would be prudent to recommend regular physicals and examinations, taking a more active and responsible role towards maintaining optimum health (e.g. exercise, nutrition, avoiding toxins from smoke, etc., limiting alcohol or substance use). It would be important to help all family members understand that a genetic "predisposition" is not the same as a genetic "diagnosis." Rather than manifesting the illness, it would be our job to help the family take a partnership role in maintaining health as well as agreeing to regular health screenings (Nash, 2009).
Further, confidentiality of genetic information and other protections found in HIPPA contain enforceable protections against related discrimination. This is critical to the manner in which the public deals with the issue of privacy and the issues surrounding genetic makeup. Certainly, without protections, most individuals would not be willing to pariticpate in studies that show links between disease and genetic make up, trials for targeted pharmaceuticals, and samples of DNA analysis. Certainly, the issues surrounding personalized medicine emphaisize the age old debate of utilitarianism and deotology -- do the ends justify the means, or do the means of getting to the ends need to be moral in orer to validate the ends? The debate about whether personalized medicine, gene therapy, genetic mapping, and issues using specifics of individual DNA are not mere probability -- they are certainly here, and will continue to evolve. The overall conundrum focuses on the manner…
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