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| DNA double helix |
Twenty-five year old Jennifer Allen experienced the unreliability of genetic screening first-hand in the fall of 2010. Doctors screened her 10-day old daughter, Sophie, and the child tested positive for Propionic Acidemia, a potentially fatal disorder requiring a strict feeding schedule. Allen ceaselessly worried for her daughter until she received additional test results that stated that the initial test was a false positive.“There was all this pressure on me to keep her fed, to keep waking her up,” Allen recalled. “And then it came back that she was perfectly healthy. It felt like a part of what I was supposed to enjoy with her as a newborn was taken away from me” (Aleccia). This example highlights genetic screening’s inconsistency and inaccuracy; until the technology develops further genetic screening simply poses too many ethical problems to be implemented widely.
Another example of a false positive occurred at a genetic screening program in New York genetically tested one- million newborns for Krabbe, a fatal disease that damages the central nervous system and mostly develops in babies younger than 6 months of age. Over two-hundred were diagnosed with risk of this disease but only four of these two hundred children actually developed symptoms, about 2% of the children who were initially diagnosed with the risk of the disease (Bleicher). The limited predictive value of this extremely vague science is represented by this small percentage that actually developed the disease. Genetic screening of newborns is not yet developed enough for doctors to offer new parents despite its potential benefits because the science yields inconsistent results and creates ethical dilemmas.
Genetic screening is a science still in its infancy, which is obvious in the inconsistency of results in the screening of newborns. According to the Nature Journal editorial “Sequenced from the start”, sequencing can only diagnose about 15-50% of children with undiagnosable diseases. Ultimately, the majority of newborn screens reveal false positives. This exemplifies the flaws of this relatively undeveloped science. Although the New York program only tested for one condition, an increase in the number of conditions screened can lead to an increase in medical costs and false positives. These false positives could potentially “cause parents to anticipate health problems in their children and potentially lead them to undergo unnecessary and harmful procedures” (Almond).
Crouse hospital in Syracuse diagnosed Morgan McCall with the genetic disease Cystic Fibrosis, a life-threatening disease that primarily affects the lungs and digestive system. This news shocked parents Paula and Steve McCall. “Steven even wondered whether we should start planning funeral arrangements, but I told him no, because I was not going to go there”(McCall). Even if a screening is fully accurate, sometimes it may predict diseases and conditions that lack a cure. Parents are then forced to live with the knowledge that their child will eventually begin to suffer and potentially even die. For some parents, this can create an emotional detachment from the child. For others, it could cause the parents to become overprotective and try to unrealistically shelter the child.
Two different types of genetic screening are possible: general screening and specific screening both of which pose unique ethical problems. Generic screening attempts to identify any possible disease or condition, while specific screening focuses on identifying only one particular disease or condition. Both of these options raise questions as to whether or not consent should be required. With the option of generic screening, the potential for multiple false positives increases; the potential for false positives decreases with specific screening. Informed consent has been an issue since genetic screening was developed, “there was limited attention to consent issues, and there was concern that asking for consent would undermine the program’s public health mission”(Timmermans). Scientists worry that asking for consent would slow down the “mission” of advancing the field of genetics, however, critics argue that failing to receive parental consent tugs at those uncomfortable edges between ethical and unethical.
Early detection of genetic disorders and reassurance that no disease exists exemplify potential benefits of genetic screening. However, its underdevelopment and ethical complications outweigh its benefits. “Huge gaps exist in our understanding of genetic condition”(Timmermans). For this reason, the science requires much more extensive research in order to perfect it for routine use. This raises questions regarding the effectiveness of the science, and critics wonder whether or not the long term benefits will always be worth it.
Aleccia, JoNel. "Babies' Blood Tests Can End in False-positive Screening Scares." TODAY HEALTH.
NBC NEWS, 9 May 2011. Web. 15 Apr. 2014. <http://www.today.com/id/42829175/ns/today-today_health/t/babies-blood-tests-can-end-false-positive-screening-scares/#.U1ZzmfldXch>.
Almond, Brenda. "Genetic Profiling of Newborns: Ethical and Social Issues." Nature.com. Nature
Publishing Group, Jan. 2006. Web. 3 Feb. 2014. <http://www.nature.com/nrg/journal/v7/n1/full/nrg1745.html>.
Bleicher, Ariel. "Perils of Newborn Screening." Scientificamerican.com. Scientific American, 1 July
2012. Web. 03 Feb. 2014. <http://www.scientificamerican.com/article/perils-of-newborn-screening/?page=2>
Another example of a false positive occurred at a genetic screening program in New York genetically tested one- million newborns for Krabbe, a fatal disease that damages the central nervous system and mostly develops in babies younger than 6 months of age. Over two-hundred were diagnosed with risk of this disease but only four of these two hundred children actually developed symptoms, about 2% of the children who were initially diagnosed with the risk of the disease (Bleicher). The limited predictive value of this extremely vague science is represented by this small percentage that actually developed the disease. Genetic screening of newborns is not yet developed enough for doctors to offer new parents despite its potential benefits because the science yields inconsistent results and creates ethical dilemmas.
Genetic screening is a science still in its infancy, which is obvious in the inconsistency of results in the screening of newborns. According to the Nature Journal editorial “Sequenced from the start”, sequencing can only diagnose about 15-50% of children with undiagnosable diseases. Ultimately, the majority of newborn screens reveal false positives. This exemplifies the flaws of this relatively undeveloped science. Although the New York program only tested for one condition, an increase in the number of conditions screened can lead to an increase in medical costs and false positives. These false positives could potentially “cause parents to anticipate health problems in their children and potentially lead them to undergo unnecessary and harmful procedures” (Almond).
Crouse hospital in Syracuse diagnosed Morgan McCall with the genetic disease Cystic Fibrosis, a life-threatening disease that primarily affects the lungs and digestive system. This news shocked parents Paula and Steve McCall. “Steven even wondered whether we should start planning funeral arrangements, but I told him no, because I was not going to go there”(McCall). Even if a screening is fully accurate, sometimes it may predict diseases and conditions that lack a cure. Parents are then forced to live with the knowledge that their child will eventually begin to suffer and potentially even die. For some parents, this can create an emotional detachment from the child. For others, it could cause the parents to become overprotective and try to unrealistically shelter the child.
Two different types of genetic screening are possible: general screening and specific screening both of which pose unique ethical problems. Generic screening attempts to identify any possible disease or condition, while specific screening focuses on identifying only one particular disease or condition. Both of these options raise questions as to whether or not consent should be required. With the option of generic screening, the potential for multiple false positives increases; the potential for false positives decreases with specific screening. Informed consent has been an issue since genetic screening was developed, “there was limited attention to consent issues, and there was concern that asking for consent would undermine the program’s public health mission”(Timmermans). Scientists worry that asking for consent would slow down the “mission” of advancing the field of genetics, however, critics argue that failing to receive parental consent tugs at those uncomfortable edges between ethical and unethical.
Early detection of genetic disorders and reassurance that no disease exists exemplify potential benefits of genetic screening. However, its underdevelopment and ethical complications outweigh its benefits. “Huge gaps exist in our understanding of genetic condition”(Timmermans). For this reason, the science requires much more extensive research in order to perfect it for routine use. This raises questions regarding the effectiveness of the science, and critics wonder whether or not the long term benefits will always be worth it.
Works Cited
Aleccia, JoNel. "Babies' Blood Tests Can End in False-positive Screening Scares." TODAY HEALTH.
NBC NEWS, 9 May 2011. Web. 15 Apr. 2014. <http://www.today.com/id/42829175/ns/today-today_health/t/babies-blood-tests-can-end-false-positive-screening-scares/#.U1ZzmfldXch>.
Almond, Brenda. "Genetic Profiling of Newborns: Ethical and Social Issues." Nature.com. Nature
Publishing Group, Jan. 2006. Web. 3 Feb. 2014. <http://www.nature.com/nrg/journal/v7/n1/full/nrg1745.html>.
Bleicher, Ariel. "Perils of Newborn Screening." Scientificamerican.com. Scientific American, 1 July
2012. Web. 03 Feb. 2014. <http://www.scientificamerican.com/article/perils-of-newborn-screening/?page=2>
Halsey, Dale, Janet Williams, and Patricia Donahue. "Ethical Issues in Genetic Testing."Medscape.com. Medscape, n.d. Web. 03 Feb. 2014. <http://www.medscape.com/viewarticle/505222_4>.
McCall, Paula. "Cystic Fibrosis: A Family Faces a Child's Care Side by Side."Better Medicine. Health Grades, 2011. Web. 23 Apr. 2014. <http://www.bettermedicine.com/story/cystic-fibrosis-a-family-faces-a-childs-care-side-by-side%3Bjsessionid%3D915C3F8A7BE868517A09C20F4B216FA7?redirect=beme>.
"Sequenced from the Start." Nature.com. Nature Publishing Group, 11 Sept. 2013. Web. 3 Feb. 2014. <http://www.nature.com/news/sequenced-from-the-start-1.13712>.
Timmermans, Stefan. "Genetic Screening: Every Newborn a Patient." Los Angeles Times. Los Angeles Times, 19 July 2013. Web. 03 Feb. 2014. <http://articles.latimes.com/2013/jul/19/opinion/la-oe-timmermans-infant-genetic-screening-20130719>.
McCall, Paula. "Cystic Fibrosis: A Family Faces a Child's Care Side by Side."Better Medicine. Health Grades, 2011. Web. 23 Apr. 2014. <http://www.bettermedicine.com/story/cystic-fibrosis-a-family-faces-a-childs-care-side-by-side%3Bjsessionid%3D915C3F8A7BE868517A09C20F4B216FA7?redirect=beme>.
"Sequenced from the Start." Nature.com. Nature Publishing Group, 11 Sept. 2013. Web. 3 Feb. 2014. <http://www.nature.com/news/sequenced-from-the-start-1.13712>.
Timmermans, Stefan. "Genetic Screening: Every Newborn a Patient." Los Angeles Times. Los Angeles Times, 19 July 2013. Web. 03 Feb. 2014. <http://articles.latimes.com/2013/jul/19/opinion/la-oe-timmermans-infant-genetic-screening-20130719>.






