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Ethics at the Beginning of Life: Prenatal Genetic Testing

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Prenatal testing and genetic testing developed hand in hand. Many genes, the basic unit of heredity, are now known through the human genome project (Pence, 2011, pp. 273-274). Genetic testing can identify the existence of genes that carry potentially life impacting and threatening conditions. However, prenatal genetic testing can determine much more than simply the abnormalities or negative factors. It can indicate sex, hair and eye color, temperament, strength, and other tendencies within the womb. The knowledge of these predispositions can be used to select embryos with certain characteristics. At worst prenatal genetic testing can be used to apply discriminatory selective tactics or a process known as eugenics. Because of this, prenatal genetic testing should be limited to testing for diseases, birth defects, chromosomal abnormalities, or genetic diseases and should be regulated to not allow abuse of screening for non-disease conditions, such as selection for sex and for eugenic purposes. Comprehensive Description

Every parent-to-be anticipates a healthy baby, but it can be hard not to worry about the unknown. Genetics, “the study of… the way traits are passed down from one generation to another” (CDC, 2003, pp.1-8), is one way we try to assuage this fear. Fortunately, the application of diagnostic technologies in the form of prenatal genetic tests can help reassure and provide information throughout pregnancy. For the purpose of this paper, prenatal genetic testing is any investigation for a genetic disease or condition in an embryo, fetus, or baby before it is born, regardless of aim. The intention may be to detect birth defects, chromosomal abnormalities, or genetic diseases; to identify possibilities of adult-onset disease; to determine or select sex; or to identify desirable characteristics such eye color, temperament, intelligence, or strength.

Genetic testing came into wide use with the development of prenatal testing. Genetic testing can extend prenatal testing by focusing on diseases associated with specific genes which are inherited disorders. “Genetic diseases are inherited disorders” (Pence, 2011, pp.273-274). Traits can also be inherited, and non-disease or non-clinical attributes such as sex, hair color, and height can be screened for. Patients request tests for a variety of reasons, some simply want to know, others need to relieve anxieties, some select certain traits, and others just want to be prepared for any type of post-delivery issues. While this might seem benign, prior to modern day prenatal genetic testing, Social Darwinism and eugenics attempted to actually weed out traits from population. The selection of these traits was made by mindsets that would currently be viewed as racist or discriminatory. This discrimination or not treating all patients with justice manifests itself today. For example, some cultures such as China and India use sonograms to detect female fetuses that are then aborted, (Pence, 2011, p.106) this negative bias toward girls is evident in China, through current population numbers, where 119 boys are born for every 100 girls (BBC, 2010, p.8). Relevance of Issue to Current Health Care

Asking the question, “What level of genetic testing for abnormalities is beneficial to the patient, and what level of trait selection is ethical?” is relevant to preserving a patient’s autonomy. In answering this question we lead health care providers to develop their unique skill set which allows them to play a role of information provider about prenatal testing in a more helpful and understanding format to patients. This extends autonomy to patients promoting an informed decision resulting in informed consent without coercion from others (Pence, 2011, p. 348). As such, nurses and other healthcare providers display fidelity as providers of information for individuals considering prenatal screening. Ethical Issues and Questions

Prenatal genetic testing stirs a myriad of ethical issues and questions for reasons of social, psychological, moral and religious rationales. The following is a partial list of issues and questions surrounding prenatal genetic testing: What level of prenatal genetic testing is appropriate and for whom? (Justice) oIs there an obligation to provide differing degrees of information based on income? oWho pays the long term cost for poor and infirmed and for the abortion services? Is it ethical to abort the unborn based on genetic testing results? (Autonomy) oWhat obligations must we uphold to the unborn patient?

oShould the mother have rights to self-determine over her body regarding pregnancy? To whom are we obligated to notify of benign findings that could lead to abortions? (Fidelity) oShould our loyalty be to protect the unborn?

oShould we protect organizations for which we work from possible unpaid cost? oShould we side with mothers to thoroughly inform and allow self-determination? Is culling the herd ethical just to promote the best for the most? (Nonmaleficence) oIs attempting to improve general strength of a population ethical? Does screening for specific traits improve the lives of the general population? (Beneficence) oWill societal benefits outweigh ramifications and loss of randomness in DNA? oIs it ethical not to accept what God gives us?

Controversy Associated with Prenatal Genetic Testing

There are different stages at which fetuses can be screened for genetic disease or abnormalities and different levels in which testing can be carried out. The distress and the health risk to the mother are concerns when viewed through the lens of the principle of nonmaleficence or of “do no harm”. The accessibility and cost of the prenatal genetic testing are contentious. Although prenatal genetic testing is considered to be a useful tool, some believe it leads us down a “slippery slope”. Controversy exists surrounding prenatal genetic testing for reasons of social, psychological, moral, and religious rationales. Practical Problem

What level of prenatal genetic testing for abnormalities acts with beneficence to the patient, and what level of trait selection is ethical? Arguments
Prenatal genetic testing is not intrinsically different from other medical exams or tests. The results are varied degrees of accuracy which limit the prognosis, but make it possible for parents to prepare for the birth of a potentially disabled child or to avoid the possible defects and abort the fetus (Denier, 2010). This prenatal genetic diagnosis (PGD) is routine in the United States although the patient must consent or use autonomy to refuse testing. PGD can be helpful in determining an unknown genetic history for a child. A surrogate who may not know who the father is can now be tested and gain information that will be helpful to know the risks and genetics. The genetics we inherit have long been considered natural justices. There was little that could be done in the past to prepare for or to prevent a disabled child. PGD today gives parents genetic information to make decisions about potential defects in advance. People with knowledge of their own genetic disorders can better manage their future. deJong, Dondorp, Frints, de Die-Smulders, and de Wert, remind us that disorders have a variable expression and that the impact of a disease, is to a large extent, context-dependent. Many abnormalities can have mild, uncertain, or no clinical consequences (2011).

A new molecular non-invasive prenatal diagnostic test (NIPD) screens for fetal abnormalities. These tests are simple and safe and can be performed early in pregnancy. The test can be offered to all pregnant women rather than only a high-risk group and are more accurate in avoiding false positive and false negative results, which in turn enhances a patient’s reproductive autonomy (deJong et al., 2010). Many current tests are multi-step with potential for error, as opposed to the newer NIPD, which is simple and provides better and more detailed results. The aforementioned advances in medical screening may contribute to a higher quality of life for both the parents and the offspring. Preliminary detection of any abnormalities can better condition families to embrace the child that they are about to bring into the world. Knowledge of any defects or simply preferences of the parents may also support an anxiety-lessened pregnancy. This is especially true for those enduring a high-risk pregnancy or those parents who understand that their own genetic history may result in a child inheriting an undesirable mutation or with augmented likelihood of having cancer later in life, for example.

The ability to determine the incidences of genetic complication during gestation, throughout childhood development, and into adulthood will also decrease one’s risk of being born into a life disease-ridden, anencephalic, or in the case of multiples, a conjoined or parasitic twin. If a couple does not select to abort a fetus that is developing with some type of defect or propensity toward a compromised health status, PGD can still provide the advantage of taking anticipatory approaches to treating the fetus prior to delivery, in its postnatal care plan, and throughout the lifespan. This may diminish the fear parents may experience once the child is born and in discovering any issues as well as the stress in planning to raise and accommodate a child who is to be with some disability. Mothers-to-be are prompted to weigh the benefit of knowing beforehand what limitations their child may present through life as opposed to the fear of not knowing until birth how this choice of what to do with a disabled child will affect finances, society’s impression, their own ability to love, accept, and nurture. Producing stronger babies with bolstered immunity and fewer characteristics that will increase their susceptibility to illness or injury will propagate healthier generations. Counterarguments

Because prenatal genetic testing is becoming simpler and has more accurate results, it could be immorally used in an attempt to breed a superior race. This would violate the Hippocratic Oath that health care professionals abide by. Additional factors to consider include a trend towards testing for even minor abnormalities and non-medical traits which will result in selective abortion (deJong et al., 2010). Diagnosis of potential defects from NIPD early in pregnancy increases the burden of knowledge and choice for the mother, especially when many of these pregnancies would spontaneously miscarry on their own without the mother having to know or decide prematurely about a defect. Additionally, predictive genetic testing can cause difficult emotions and additional stress that patients were unprepared to encounter and have not experienced in the past (Porz and Widdershoven, 2011). Other forms of detailed testing are invasive and increase the risk of miscarriage (deJong et al., 2010). All of these factors increase unnecessary emotional burdens and issues for the patient, which must then be addressed by health care professionals.

The different levels of testing available increase in cost as additional assessments and disorders are identified. The more defects and genetic outcomes that are being tested for also make informed consent more complex. One suggestion is to present findings in categories, thus minimizing the list of complexities. A second option is to use counseling and decision making and then filter unclear and difficult to handle findings (deJong et al., 2011). Both of these options appear to withhold information from the patient, when the purpose of testing is to provide the patient with information. Minimizing the outcome deprives patients of the autonomous reproductive choice (deJong et al., 2010). A particular challenge of the ethics is that of the discriminatory motivation to terminate a fetus that would be born with a developmental condition, such as Down syndrome (DS) or Cerebral palsy (CP). In the perspective of disability rights advocates, those deciding to not raise a disabled child may choose selective abortion thus work against the movement to accept those with DS and honor their autonomy and justice.

Renowned bioethicist Peter Singer explains, “To abort a fetus with one of these disabilities, intending to have another child who will not be disabled, is to treat fetuses as interchangeable or replaceable. If the mother has previously decided to have a certain number of children, say two, then what she is doing, in effect, is rejecting one potential child in favor of another. She could, in defense of her actions, say: the loss of life of the aborted fetus is outweighed by the gain of a better life for the normal child who will be conceived only if the disabled one dies” (1993, p. 185). The screening technique recommended by the American Congress of Obstetricians and Gynecologists (ACOG) includes noninvasive procedures that assess risk factors or markers that suggest a fetus may have DS (2006).

From there, it is at the mother’s discretion to undergo further, albeit more invasive testing, to confirm these indications. These diagnostic evaluations have not been deemed completely accurate, and while they continue to improve, they may potentially miss cases of disability, lead parents to unnecessarily abort a fetus, and in certain unfortunate cases, have resulted in miscarriage and physical damage to the growing fetus. Finally, if testing is being done specifically for gender testing and selective abortion is performed on a large scale to rid the unwanted gender, then health care ethics state we have the right to restrict individual choice that undermines public good (deJong et al., 2010). Selective abortion is a major issue of moral sensitivity in debates about prenatal screening (deJong et al., 2011). Personal Position — Lauren Delucca

I support the advancement of any genetic testing technique due to the fact that increased opportunities to utilize any method of understanding the creation and formation of life and the subsequent perseverance of optimal quality of life will result in its fortification as a modern science. With that said, the science need be a protected one. Some may critique PGD as “playing God”, and I understand that with any ability we as humans have to manipulate the fate of another being without its own autonomous voice, controversy will surround prenatal and pre-implantation genetic screenings. However, I do see the benefits it grants impending parents and the unborn child as it can help families set the stage for the arrival of a baby with special needs and make arrangements for his or her care, education, and on a greater scale, prepare them to navigate societal judgment because this is inevitable.

I see that prenatal screening will allot individuals with time and resources to be better parents to a disabled infant they intend to raise, and if they do not decide to carry the fetus to term and elect to terminate, they can then be directed to counseling by reference of medical professionals, as a way to accrue coping mechanisms and possibly be educated on how to manage their health before and during a future pregnancy. It should be recommended for any woman deciding to conceive in a higher-risk health status and accessible for anyone with concerns or reservations about having a child with abnormalities. From there, the patient may have the right to choose how to accommodate the special needs of the child or to not give birth to a child who may endure a life impacted by severe cognitive or physiological disabilities and the emotional and economic toll that could have on the parenting of that child. These, I feel, are appropriate and advantageous implementations of this technology. Personal Position – Linda Despain

Prenatal testing can be helpful to provide information about the fetus and places more autonomy with the patient to make decisions. The controversy associated with prenatal genetic testing is a conflict of moral personal beliefs. Some of the tests offered will produce only markers or possible genetic defects, but not all babies will have the defect at birth. I believe that it is helpful to prepare parents emotionally for the possibility of a defect and to assist them as health care professionals to find the resources that will lighten a potential burden. It is currently not possible to give the assurance to parents that the child will be free of any defects. Some more serious defects are diagnosed accurately, and this can help parents either prepare for an early death or decide to terminate the pregnancy. Both decisions come with emotional discomfort and difficulty, which we address in the ethic of care with beneficence. Additionally, prenatal genetic testing is valuable in identifying potential gene disorders that will save time and money in providing future health care personnel with the information when the child does develop an unknown condition or suffers with issues that are difficult to diagnose.

Eugenics to identify gender selection or to identify specific features is an issue that current society morally and ethically rejects in the United States. Like Kant, I believe there are certain moral laws that are absolute rights and wrongs that should govern our decisions and judgment (Bennett-Woods, 2005). Eugenics testing fully violates every moral, ethical, and virtuous code that I embrace, and I would fight to limit prenatal testing for the purpose of frivolous eugenics. However, while it is not always possible to accurately identify the future of a fetus or a child’s health, we can use prenatal genetic testing for valuable personal information. I believe that in honoring justice, this testing should be made available to all patients, but that they should use their autonomy to determine which tests they want to have administered. Personal Position – Cynthia Ventura-Lippert

Prenatal genetic testing offers numerous advantages and disadvantages. As such, nurses and other healthcare providers should demonstrate Fidelity towards the patients, acting as advocates and providers of understandable and thorough information for individuals considering prenatal screening. In using their unique skill set which allows them to support patients while providing information, autonomy is further extended to patients by promoting their ability to make informed decisions resulting in informed consent without coercion from others (Pence, 2011, p. 348). In applying the principle of beneficence, or helping others and being compassionate, medical professionals are able to convey all sides of the issues in a caring manner. Providing useful and needed information along with helping others through support and being their voice are necessary elements that protect patients’ rights. There is an unspoken deontological perspective or an inherent duty that is fulfilled when meeting the requirements needed by patients about to make a decision or when helping others make their choice.

The goals of prenatal testing primarily intend to prevent the hardships and burdens of a life with disabilities for the mother, family, and the prospective child. It’s through the principle of justice or fairness and equality in treatment and allocation of scarce resources, (Pence, 2011, p.350) and, at times quality information is a scarce resource, that we most exhibit nonmaleficence and “Do no harm”. The benefits derived from these prenatal genetic tests, regardless of results and resultant decisions made, can carry moral implications if viewed through the lens of Catholic Moral Tradition. Still, these same decisions and results can also display no sign of morality when issues are examined by the light of consequentialism, especially upon consideration of long term effects, costs, and societal economic woes. My opinion is that prenatal genetic testing of the fetus is useful at all levels, but the risks should be carefully weighed and the testing should only be performed for clinical reasons such as the detection of adult-onset diseases, birth defects, chromosomal abnormalities, or genetic diseases. Providing a barrage of prenatal tests should be regulated and not automatically allow abuses of screening for non-disease conditions, such as sex selection, aesthetics such as eye, skin, or hair color or for eugenic purposes.


American Congress of Obstetricians and Gynecologists (2006). New recommendations for Down syndrome call for offering screenings to all pregnant women. Retrieved from:
http://www.acog.org/About_ACOG/News_Room/News_Releases/2006/New_Recommendations_for_Down_Syndrome BBC Online (2010). China faces growing gender imbalance.
Retrieved from BBC Online: http://news.bbc.co.uk/2/hi/asia-pacific/8451289.stm Bennett-Woods, D. (2005). Ethics at a glance. Retrieved from http://rhchp.regis.edu/HCE/EthicsAtAGlance/index.html Bennett-Woods, D. (2008). The greater harm. Retrieved from https://worldclass.regis.edu/content/ enforced/29272-RN_HCE430-XIN_XH42_12F8W1/Content/pdfs/CaseStudySet1.pdf?_ &d2lSessionVal=WoKQAM7pOSrh2gMkeNEdTAS1y Center for Disease Control and Prevention (CDC), (2003). Genomics and population health: United States. Retrieved from: http://www.cdc.gov/genomics/about/reports/2003/2003_lingo.htm de Jong, A., Dondorp, W. J., Frints, S. M., de Die-Smulders, C. M., & de Wert, G. R. (2011). Advances in prenatal screening: The ethical dimension. Nature Reviews Genetics, 12(9), 657-663. doi:10.1038/nrg3036 de Jong, A., Dondorp, W. J., Frints, S. M., de Die-Smulders, C. M., & de Wert, G. R. (2010). Non-invasive prenatal testing: Ethical issues explored. European Journal of Human Genetics, 18, 272-277. Denier, Y. (2010). From brute luck to option luck? On genetics, justice, and moral responsibility in reproduction. Journal of Medicine & Philosophy, 35(2), 101-129. doi:10.1093/jmp/jhq007 Pence, G. E. (2011). Medical ethics: Accounts of ground-breaking cases. (6th ed.). New York, NY: McGraw Hill. Porz, R., & Widdershoven, G. (2011). Predictive testing and existential absurdity: Resonances between experiences around genetic diagnosis and the philosophy of Albert Camus. Bioethics, 25(6), 342-350. Doi:10.1111/j.1467-8519.2009.01795.x Singer, Peter (1993). Taking life: Humans. Practical ethics (2nd ed.). Cambridge University Press. Scoring Rubric – HCE 430 – Position paper

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