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2007 DNA Day Essay Contest Winners

Question 1:

Question 2:


 

Question 1: If you were a genetics researcher, what would you like to study (and why)?:
 

 

First Place

Lindsay Michalski (11)
Athens High School
Michigan


The Promise of Pharmacogenomics

For over 5.7 million American adults, life is governed by the cyclical highs and lows characteristic of bipolar disorder (Bipolar). As the child of a bipolar parent, life in my home has often been volatile and unpredictable. However, as scientific research continues to advance in this age of technological splendor, research in the field of pharmacogenomics has the potential to provide boundless opportunities for advancement of treatment options for bipolar patients. Thus, if I were a geneticist, I would conduct pharmacogenomic research concerning the detection of genetic variations among bipolar patients in order to discover ways to better the lives of those afflicted with this multifaceted condition.

Bipolar disorder is a condition in which extreme mood swings occur often and without warning. Euphoric episodes alternate with severe depression, and symptoms such as irritability, irrational spending, and constant chatter can make life difficult for both the patient and his or her family. Finding an effective treatment for bipolar disorder is difficult for patients of any age, background, and race. Medications approved to treat this disease include lithium and aripipazole (Bipolar); however, with these often comes a variety of undesirable side-effects, such as weight-gain and anxiety (Abilify). Additionally, many medications are simply ineffective for certain patients. Establishing a successful treatment plan is often a “trial-and-error” process in which error frequently dominates.

Recently, scientists have begun to consider the role of genetics in the manifestation of mental disease such as bipolar disorder and how genetics relates to treatment of these conditions. It is a widely-acknowledged fact that a genetic component to mental disease exists, but mental disorders are a whirlpool of daunting complexity, an intricate fusion of genetic and environmental factors. Approximately 50,000 genes are expressed within the human brain (Hunting). Which of these contribute to mental illness? And how can we tailor medication to target those genes particularly? As a genetics researcher, these are questions I would strive to address.

Determining what genes are involved in mental disorders, what activates them, and how they interrelate with environmental factors holds immeasurable promise for the design of new treatment options through pharmacogenomic research. Pharmacogenomics, commonly referred to as the study of “personalized medicine,” examines a patient’s specific response to a treatment based on his or her unique genetic composition (Pharmacogenomics). Scientists have now determined that the nucleotide content of genes varies from person to person. These variations, known as single-nucleotide polymorphisms or SNPs, occur with relative frequency, and up to 10 million of them can be present in the human genome (National Center). SNPs are detected through DNA sequencing, a process which was formerly slow and costly. Fortunately, novel technological developments such as DNA microarrays, which can screen up to 100,000 SNPs in a patient’s genome within a matter of hours, make the sequencing process easier than ever (Microarray). As a genetics researcher, I would study how this process can be used to predict whether patients will react favorably to a specific drug. With further investigation, SNP screening via microarrays may someday become a staple in doctors’ offices, enabling patients to be tested for drug responses quickly and painlessly (National Center).

SNP screening using microarrays will not only affect prescriptions of existing drugs, but will also aid in the development of new drugs. Through this innovative method, drug companies will be able to increase the efficiency of testing by excluding those who would exhibit undesirable reactions and playing up a drug’s positive effects, helping to ensure that a new drug makes it onto the market (National Center). It will also help to save money for both companies and consumers, since trials would be smaller and quicker, thereby reducing costs. The introduction of new medications coupled with lower price tags makes for the prospect of exciting developments in the improvement of treatment for bipolar disorder.

The life of a bipolar patient is riddled with uncertainty as it is, without the added burden of searching for an effective treatment. Luckily, the prospective benefits of pharmacogenomic research are immensely promising. Pharmacogenomics will help to eradicate the “one size fits all” nature of medications used to treat bipolar disorder and may make it possible to tailor medication to a specific patient’s genetic makeup, helping to tame those endless highs and lows. Life is a vortex of unpredictability for bipolar patients, as well as their families; pharmacogenomics holds the key to making it a little easier – for me, for my father, and for the nearly 6 million Americans who suffer everyday with bipolar disorder.

Citations/References

Abilify. 05 March 2004. 23 February 2007 .

"Bipolar Disorder." January 2007. National Institute of Mental Health. 21 February 2007 .

"DNA microarray." Wikipedia. 25 February 2007 .

"Gene Hunting." 1 June 1999. About.com. 22 February 2007 <.

Lagay, Faith. "Pharmacogenomics: Revolution in a Bottle?" March 2002. American Medical Association. 28 February 2007 .

McGuffin, Peter, Brien Riley, and Robert Plomin. "Genomics and Behavior: Toward Behavioral Genetics." Science 16 February 2001: 1232-1249.

National Center for Biotechnology Information. 16 June 2004. 23 February 2007 .

"Pharmacogenomics." 15 March 2003. Human Genome Project Information. 20 February 2007 .

 


 

Second Place

Margaret Dietrich (12)
East Kentwood High School
Michigan

 

She was beautiful, smart, an avid shopper and a musical theatre fan. She was also trapped in a body ravaged by ALS – more commonly known as Lou Gehrig’s disease. She was my Aunt Diana, a woman I loved and cherished for many years of my life. She lost her courageous battle with ALS in the summer of 2004. As a genetics researcher, I would study the effect of genetic therapy on patients with ALS in hopes of finding an improved treatment for this devastating disease. While this disease directly affects 30,000 Americans at any moment, a much wider circle of family and friends are also touched by the disease’s ravaging effects.

Amyotrophic Lateral Sclerosis is a degenerative muscle disease which slowly eats away at the neurons in the brain and spinal cord. These neurons regulate the function of the body’s muscular system. Due to this degeneration, the body slowly loses control of muscle function, eventually resulting in death. What is most alarming about this disease is its progression. Half of all patients diagnosed live three years or more, while only ten percent live more than ten years. Currently, there is no comprehensive treatment for ALS, although there is a drug, Rilutek which has the generic name of riluzole. Riluzole helps delay the muscle deterioration of ALS. Other than Rilutek, the only other treatments are those that treat symptoms of ALS.

For some, not all cases, a link to Sporadic ALS has been found on Chromosome 21 on the gene that codes for SOD1, an enzyme which codes for a protein that when mutated, causes ALS. SOD1 stands for copper-zinc superoxide dismutase 1, and normally produces an enzyme which protects cells from damage. However, once this protein mutates, the enzyme develops a toxic property and beings to negatively affect cells. In recent months, the American Academy of Neurology has announced discovery of another gene with potential linkage to ALS. Research teams at both Northwestern and University of Michigan have found links to ALS in a group of paroxonase genes located on chromosome 7. Variation in these genes is positively correlated to susceptibility to ALS.

With this knowledge, my hypothesis is that the most effective treatment for ALS symptoms is gene therapy using both the SOD1 and paroxonase genes. To test this hypothesis, I would design an experiment testing the effectiveness of gene therapy in reduction of symptoms in ALS patients. The candidates for this experiment would be adult ALS patients of all ethnicities between ages 35 and 55. Although ALS affects primarily men, I would attempt to gain as many women as possible for my research. These patients would be prohibited from taking Rilutek/riluzole during the study, so that only the effects of gene therapy can be revealed. Also, the study would be six months long and conducted using the single-blind procedure, where patients would not know what genes they were receiving, so as to ensure results are accurate as possible. After collecting a sizable study group, the patients would be divided evenly into four test groups. The first group would be a control group and would only receive a placebo injection. The second would receive healthy copies of the SOD1 gene. The third test group would receive healthy copies of the paroxonase genes, and the fourth group would receive a combination of the SOD1 and paroxonase genes. These genes would be extracted from willing donors, cloned and reintroduced to the donor. These cloned genes will then be inserted into the genomes of the test groups. To test the effects of the therapy, patients from the test groups will perform a “Motor Skills Assessment, a specially designed test of fine and gross motor skills, which are most commonly affected by ALS.

I feel this is a very important area of study not only because it has affected my life, but thousands of others’ as well. ALS is a truly debilitating disease, and it is often frustrating for friends and loved ones to watch the slow, painful, progression of a disease which essentially has no cure. Even if a cure is not found, this study could contribute to further research that would make a cure possible. Also, because of the similarities of ALS to other motor diseases, breakthroughs in ALS research could also contribute to breakthroughs in other disease research, such as Multiple Sclerosis. It is my hope that one day ALS becomes curable, so that no one else has to lose a friend or loved one to this horrible disease.

Citations/References

Dellefave, Lisa and Gaudette, Mara. “Genetics and ALS” November 2004. [Online]
http://www.alsa.org/als/genetics.cfm?CFID=3530808&CFTOKEN=94733591

Friedman, Roberta. “AAN News: Genetic Findings Indicate Promising Therapies” April
2006. [Online] http://www.alsa.org/research/article.cfm?id=924

The ALS Association. “Forms of ALS” January 2004. [Online]
http://www.alsa.org/als/forms.cfm?CFID=3530808&CFTOKEN=94733591

The ALS Association. “What is ALS?” January 2004. [Online]
http://www.alsa.org/als/what.cfm?CFID=3530808&CFTOKEN=94733591
 


 

Third Place

Jason Choi (11)
Montgomery Blair High School
Maryland

 

“How’ll this help me?” asked my chemistry teacher sarcastically. It was December 2006 and I was asking Mr. Bunday for a recommendation for a research internship. A little stunned, I explained that I wanted to work on the regeneration of heart cells.

“Will it come in time to save me?” he asked––less playfully now and with a slight chill of urgency. But I didn’t notice it. I just followed the game and kept up the sales pitch, saying that there had already been tests of bone marrow cells helping to regenerate damaged mouse heart tissue. With a smile he said he’d be glad to write my recommendation, and I gave a gracious thank you.

As I walked out I suddenly remembered that my 70-year-old teacher has had multiple strokes in the past couple of years. Heart attacks surely were not far behind. If I was lucky enough to get an internship in this subject, my research really could help him continue what he loved doing: teaching high-school students. “Will it come in time to save me?” his haunting voice echoed as I walked back down the three flights of stairs. I passed eating, yelling, laughing, and singing high school students, arriving at lunch still in deep thought.

Coronary Heart Disease is the leading cause of death for Americans. It doesn’t get the publicity of AIDS and cancer, but half a million Americans die of it each year and millions more suffer from its symptoms (“Cardiovascular Disease Statistics”). What makes heart disease particularly hard to treat is that the body is unable to replaced damaged heart cells with new ones, leading to a scar. In fact after just one heart attack, no matter how minor, the scar that forms in the heart will never go away. The myocytes (beating heart cells) surrounding the scar try to compensate for the lack of pumping power, but die of overuse. And so the injured heart starts its slow but sure decline.

There are currently many approaches to finding the cure for heart disease, but I think that the most intriguing method would be to study the genes related to zebrafish heart regeneration. Zebrafish (Danio rerio) regenerate their hearts with two synchronous steps (Meritt). First, undifferentiated progenitor cells (stem cells) line the damaged region and develop into myocytes. At the same time, the epicardial cells (cells making up a “skin” layer around the heart) close up the wound and create coronary blood vessels. Fibroblast growth factors were found to be responsible for the biochemical signaling between the two steps (Snyder). In fact, scientists discovered that without these factors full regeneration cannot occur; instead the zebrafish heart scars, in a way similar to a human heart. Mammalian hearts have both progenitor cells and epicardial cells, but for some reason there is no regenerative response.

If I were a human geneticist, I would try to further understand the zebrafish fibroblast growth factors and their genetic basis using DNA chips. I would then research how the fibroblast genes are regulated, with particular interest in how they are activated. Next, I would try activating these genes in human heart cells. And if this is successful, I would take the final step and develop a treatment for patients.


Human regenerative medicine promises to be the next penicillin: an all-purpose cure for the major diseases of the time. If I were a human geneticist, I would love to research its applications to the number one killer of Americans––possibly finding a cure for Mr. Bunday and the millions of other heart disease patients in the world.

Citations/References

“Cardiovascular Disease Statistics.” 2006. American Heart Association. 7 Jan 2007.

http://www.americanheart.org/presenter.jhtml?identifier=4478 
Meritt, Richard. “Key to Zebrafish Heart Regeneration Uncovered.” Duke Med News. 2 Nov 2006. 7 Jan 2007. http://www.dukemednews.duke.edu/news/article.php?id=9932
Snyder, Allison. “Secret of Heart Regeneration Uncovered.” Scientific American. 2 Nov 2006. 7 Jan 2007. http://www.sciam.com/article.cfm?articleID=AAFFD0D5-E7F2-99DF-3C4DEA936E6D7CD6
 

 


 

Question 2: In what ways will knowledge of genetics and genomics make changes to health and health care in the US Possible?

 

First Place

Elena Perry (9)
Richard Montgomery High School
Maryland

 

When I look in the mirror, I see that I have my mother’s nose and lips, and my father’s eyes and chin. What is not so apparent is whether I have also inherited my father’s defective Factor V Leiden gene, which would predispose me to forming clots in blood vessels. Fortunately, I can request DNA testing to determine whether my Factor V gene is flawed; if it is, I can take appropriate precautions. Many people, however, are not as lucky as I am; tests have yet to be developed for many genetic conditions. Our current healthcare depends far more on treatment than prediction and prevention; in other words, the emphasis is on reactive patient care. However, in the not-so-distant future, increased knowledge of genetics and genomics will likely enable a shift to proactive care that is predictive, preventative, and personalized.

Since the completion of the Human Genome Project in 2003, researchers have been collaborating in an international effort to produce a “HapMap” of common patterns of human genetic variation. This effort is already shedding light on genes that increase susceptibility to diseases such as diabetes, heart disease, and osteoporosis. In fact, by the time I graduate high school in 2010, as many as a dozen predictive tests may become available for these and other common diseases. Once people are aware of their predispositions, they will be able to take preventative actions specific to those diseases.

In addition, the discovery of disease-causing genes has opened up the field of targeted medicine. For example, before the discovery of the genetic basis of chronic myelogenous leukemia – the fusion of a certain pair of genes – treatment often relied on bone marrow transplants. Since the discovery, a new medicine, Gleevec, has been used with great success; it treats the root of the problem by blocking production of the culpable protein. Soon, targeted medicines may become available for diabetes, Alzheimer’s disease, and heart disease, as we discover the genetic roots of these and other diseases.

Medicine will also become more personalized as genetic tests help doctors determine which medications and dosages are best for each patient. For example, in 2005 researchers pinpointed a gene that is associated with a person’s risk of a dangerous reaction to the common blood-thinning drug warfarin. If I am prone to blood clots like my father, doctors will be able to use genetic testing to determine whether warfarin is appropriate for me. Dosages will also become more precise with the advent of tests for analyzing genes that affect metabolism of prescription drugs. Medicines that can be toxic to a few would not have to be abandoned; consequently, a much greater variety of medicines could become available as drugs that have been pulled off the shelf in the past are reevaluated.

It is plausible that within a few decades, genetic profiling will become routine for all patients, as the current rapid pace of technological advancement could dramatically reduce its cost. Steps have already been made in that direction; for example, we are theoretically capable of combining thousands of tests in a single gene chip, which is similar to a computer chip with DNA probes instead of transistors. A futuristic annual physical examination could consist of analyzing each patient’s genetic profile contained on a microchip and using the information to design a long-term plan of maintenance and preventative measures, rather than simply checking patients for physical abnormalities.

Along with opportunities for improving healthcare, increased knowledge of genomics poses broad ethical, legal, and regulatory challenges, such as how to preserve privacy and protect against genetic discrimination. The Genetic Information Nondiscrimination Act, which has been unanimously passed by the U.S. Senate but is still under consideration by the House of Representatives, is designed to address such concerns. Another challenge is educating healthcare professionals about genetics and training them to analyze and apply genetic information appropriately. Despite these challenges, genomics will likely have broad positive impacts on healthcare. For example, the process of developing new drugs will become more efficient as guesswork is replaced by a clear understanding of the molecular basis of disease. Reduced development costs could translate into lower prices for prescription drugs. In addition, while genetic profiling and other sophisticated tests would raise the cost of preventative care, such advanced preventative care could dramatically reduce the incidence of diseases requiring costly treatments. The potential of genomics to revolutionize healthcare can perhaps best be summed up by an old saying: an ounce of prevention is worth a pound (or more) of cure.

Citations/References

Alford, Raye L. Genetics & Your Health: A Guide for the 21st
Century Family. Medford: Medford Press, 1999.

Collins, Francis S. “Personalized Medicine: A New Approach to Staying Well.” The Boston Globe. 17 Jul 2005. 14 Mar 2007.
articles/2005/07/17/personalized_medicine/>.

Enriquez, Juan. As the Future Catches You: How Genomics & Other Forces Are Changing Your Life, Work, Health & Wealth. New York: Crown Business, 2001.

Milunsky, Aubrey. Your Genetic Destiny: Know Your Genes, Secure Your Health, Save Your Life. Cambridge: Perseus Publishing, 2001.

Smith, Gina. The Genomics Age: How DNA Technology is Transforming the Way We Live and Who We Are. New York: AMACOM, a division of American Management Association, 2005.

Wexler, Barbara. Genetics and Genetic Engineering. Detroit: Gale, 2004.
 


 

Second Place

Sumit Malik (10)
Thomas Jefferson High School
Virginia

 

We are at the brink of a revolution. Genetic research and experimentation has manifested unimaginable potential to maximize the common good, prompting expansion into unexplored frontiers of scientific intelligence. Harnessing this potential has evolved into a national priority, forcing itself to the forefront of domestic concern through undertakings within governmental agencies as well as the private sector. The recent acceleration in the development of genetic technology has provided the framework for tremendous societal benefits. Indeed, the introduction of innovative strategies for drug design, therapeutic processes, and illness prevention methodology yields health care implications comparable to, if not surpassing, those arising from the initial invention of antibiotics themselves (“Health”).

The United States currently upholds one of the most expensive health care programs in the world. Inefficiency in health care management has arisen as a result of inadequacies in early diagnosis and treatment of diseases. A critical shortcoming is the inability to identify patient populations that have a high risk of acquiring various chronic diseases. Many of these diseases, if diagnosed early, can be managed by low-cost preventive measures or behavioral modifications, avoiding the onset of serious complications (Holzman). Rapidly escalating pharmaceutical expenses have added to the financial burden of the health care system. As a common practice, accepted methods of treatment are established by studies conducted on groups of individuals with varying genetic makeup and may not be optimum for specific cases (Ferrer, Hambridge, and Maly).

The amalgamation of biotechnology, bioinformatics, and genomics has established a foundation for exceptional health care advancement (Collins). The Human Genome Project, having succeeded in achieving its original objectives, has shifted its focus toward pragmatic application of its findings (“Human”). This encompasses multiple facets of health care operations. The identification of genes and the regulation of gene expression has stimulated the development of techniques for prevention, diagnosis, and treatment of potentially fatal diseases. Gene sequences that are associated with increased likelihood of chronic diseases, such as diabetes mellitus, have been recognized (“Genetic”). Investigation by means of DNA microarray assays and polymerase chain reaction (PCR) have aided in the recognition of elusive pathogenic materials, such as HIV. Additionally, the utilization of PCR enables diagnosis of various diseases, including cystic fibrosis, hemophilia, and sickle-cell disease. The insight acquired in this field, however, extends far beyond the means to simply diagnose maladies. Exploration of gene therapy has provided advanced techniques for the utilization of harmless retroviral vectors to incorporate an operational allele into the chromosome of a cell with a dysfunctional gene, thus offering an innovative and efficacious approach to treatment (Campbell and Reece 402-404).

Perhaps the most remarkable facet of modern scientific progression is the active pursuit of a system of personalized medicine and individualized care. Undoubtedly, each individual responds to treatment in a distinct manner, as characterized by the varying impact of medication for each case in which it is administered. Side effects of treatment differ for each individual as well. Analysis of genetic makeup has the ability to elucidate the unique requirements for the sustenance of each specific patient, thereby capacitating unparalleled precision in treatment procedures. The establishment of genetic profiles may provide the opportunity for accurate risk prediction for the contraction of diseases, pharmacogenomics in accordance with gathered genetic data, and the development of gene-based therapeutic procedures. This provides the basis for educated medical decisions, personalized medication dosage, more efficient and cost-effective remedies, and an eventual decrease in worldwide fatalities that result from inadequate treatment ("Personalized”).

Genetics and genomics have already begun to change my world. My neighbor and fellow high school student was recently diagnosed with osteosarcoma, a malignant bone cancer. Chemotherapy, while extremely valuable, has not been entirely effective. He may now pursue alternative gene-based options to retard the deterioration of his condition. Modernized research applications at a genetic level have pioneered progressive techniques to combat cancer (“Detailed”). For example, small interfering RNA, or siRNA, has been successfully utilized to disrupt the proper function of telomerase, an enzyme that essentially enables unlimited proliferation of cancer cells. In addition, pharmacogenomics may provide my neighbor with the opportunity to accurately predict the manner in which his body will react to various medications (Shammas et al.). Indeed, advancements in genetics may save his life.

Application of genetics is the technology of the future. Extensive research in this field provides tremendous potential to benefit society, and achieving this potential may transform the current health care system entirely. Proper implementation of modern techniques has the ability to increase efficiency, save lives, and make a difference in the world.

Citations/References

Campbell, Neil A., and Jane B. Reece. AP Edition: Biology. 7th ed. San Francisco: Benjamin Cummings, 2005.

Collins, Francis S. “Personalized Medicine: How the Human Genome Era Will Usher in a Health Care Revolution.” National Institutes of Health. 10 Feb. 2005. 23 Mar. 2007 .

“Detailed Guide: Bone Cancer.” American Cancer Society. 16 May 2006. 23 Mar. 2007 .

Ferrer, Robert L., Simon J. Hambridge, and Rose C. Maly. “The Essential Role of Generalists in Health Care Systems.” Annals of Internal Medicine 142.8 (Apr. 2005): 691-699. 23 Mar. 2007 .

“Genetic Health Care in Washington: Assessment of Services and Perceptions amid Establishment of a Statewide Plan.” Washington State Department of Health. Dec. 1997. 23 Mar. 2007 .

“Health Issues in Genetics.” National Human Genome Research Institute. Nov. 2006. 23 Mar. 2007 .

Holzman, Neil. “Genetic Testing - Health Care Issues.” Access Excellence. 1999. The National Health Museum. 23 Mar. 2007.

“Human Genome Project Information.” The Human Genome Program. 29 Aug. 2006. U.S. Department of Energy Office of Science. 23 Mar. 2007.

“Personalized Medicine: Tailoring Treatment to Your Genetic Profile.” MayoClinic. 30 June 2006. 23 Mar. 2007.

Shammas, Masood A., et al. “Telomerase Inhibition by siRNA Causes Senescence and Apoptosis in Barrett’s Adenocarcinoma Cells: Mechanism and Therapeutic Potential.” Molecular Cancer 4 (July 2005). 23 Mar. 2007.
 


 

Third Place

Nathan Whitmore (9)
Ralph Waldo Emerson Junior High
California

 

"This is the outstanding achievement not only of our lifetime, but in terms of human history. I say this, because the Human Genome Project does have the potential to impact on the life of every person on this planet.” These were the words of Dr. Michael Dexter, when the "rough draft" of the human genome was first completed. Fast-forward seven years, and much of that potential has been realized, with many more possible advances still to come. Advances are most likely to come in three fields: pharmacogenomics, gene therapy, and genetic screening.

At the current time, about 100,000 deaths and two million hospitalizations occur from adverse reactions to drugs—in the United States alone! Most of these are the result of physicians who must rely on easily observable information about the patient when deciding which drugs and dosages to prescribe. The promise of pharmacogenomics is the ability to predict exactly, based on their genotype, what drug and what dose a patient should have. Pharmacogenomics has the potential to dramatically reduce the incidence of adverse drug reactions by highlighting genetic mutations that could potentially cause overdose or other reactions, as well as less dangerous side effects.

Currently, some limited pharmacogenomics are in use, focusing mainly on genetic variations that cause abnormal forms of enzymes which break down drugs (which can potentially cause overdoses). Genetic tests have been developed for some of these genes.

Future pharmacogenomics will make adverse reactions much rarer. Advancements in our understanding of genetics and epigenetics (the factors which control gene expression) will give physicians better data on how a particular individual will handle a specific drug. It is possible that a new pharmaceutical paradigm will also emerge: the development of several versions of a single drug for different genotypes.

Another facet of genetics is that of gene therapy. Unlike pharmacogenomics, gene therapy is currently still very experimental, facing both technical and ethical barriers. The few human trials of gene therapy have not been runaway successes; many trials have reported lack of success or severe side effects such as leukemia.

Somatic gene therapy (use of gene therapy on an entire organism) probably will not enter general use in the near future. It is more likely that “germline” gene therapy (gene therapy that involves the modification of an egg or sperm) will be used more extensively, as it allows for easier modification. However, it is fraught with problems, such as the ethical issues of creating “designer babies”, as well as the concerns of some groups that that gene therapy could be used as a form of genocide.

A possible consequence of widespread gene therapy could be the development of a “genetic underclass”, or a group of people who are disadvantaged because of their genotype. It is unrealistic to assume that all people in all countries would have access to gene therapies. It is possible that discrimination could appear against people who have not been modified, due to the perceived superiority of those who are. Therefore, measures and regulations will need to be put into place to prevent discrimination against “unmodified” people.

Likely the most important area of genetics is that of genetic screening, as both pharmacogenomics and gene therapy rely on knowing details about an individual’s genome. Genetic screening is one of the most common uses of genetics, and many US states now have routine neonatal testing for some genetic disorders. Genetic tests are also available for adults as well.

Genetic screening technology is progressing rapidly, as our understanding of the human genome advances. One of the most likely near-future uses of gene-screening technologies may be universal or near-universal screening for a wide range of genetic disorders, at least in developed countries.

A consequence of this practice would be the wide availability of an individual’s genetic information. While this would allow for better preventative measures, medications, and other therapies, who should be allowed to access the information is hotly debated. China currently has a law which garnered much opposition because it makes some genetic tests mandatory, and has been called a government endorsement of eugenics. Others claim that so-called “genetic disorders” may also prove beneficial. Unfortunately, at the current time, no real consensus has developed around these issues.

Since that fateful day when the human genome “rough draft” was announced, the field has advanced enormously, with further breakthroughs on the near horizon. However, there are issues, both ethical and scientific, that will need to be addressed before much of the potential of genetics and genomics can become a reality.

Citations/References

Martin, Paul. "China backtracks on eugenics law." healthmatters 28 Feb 2007.

Conventional Giemsa Stain 1." Primate Cytogenetics Network. 14 Mar 2007.

Melcher, Ulrich. "Chromosome Banding." 31 Aug 2005. Oklahoma State University. 3 Mar 2007.

"The Test." 3 Dec 2007. Williams Syndrome Foundation. 3 Mar 2007.

"Pharmacogenomics:Medicine and the New Genetics." 21 Aug 2006. Human Genome Program of the U.S. Department of Energy Office of Science. 05 Mar 2007.

Barash, Carol. "Ethical Issues in Pharmacogenetics." ActionBioscience.org. 05 Mar 2007.

"Gene therapy." 18 Nov 2005. Human Genome Program of the U.S. Department of Energy Office of Science. 07 Mar 2007.

Williams, Shawna. "The impact of genetic discrimination." 2006. The Genetics and Public Policy Center. 08 Mar 2007.

 

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