Comparative Analysis of Attitudes towards Preimplantation Genetic Diagnosis and Prenatal Genetic Testing in the United States and Turkey Pooja Yesantharao 4/29/2015
Created for Global Urban Lab Rice University: School of Social Sciences
Executive Summary Prenatal genetic testing and preimplantation genetic diagnosis allow geneticists to assess a fetus or an embryo, respectively, during pregnancy. These procedures are controversial, however, because although they can reduce the incidence of various genetic diseases, they are also seen as promoting eugenic selection of embryos or as causing increased rates of abortion. Thalassemia is an autosomal-recessive hemoglobin disorder, which is of growing global concern because of its increasing incidence worldwide. Thalassemia is prevalent in Turkey as it is commonly found in those of Mediterranean ancestry, and its prevalence has increased due to the Islamic practice of consanguineous marriage. Thalassemia has also been found to be more common in the United States than previously thought, especially in populations not traditionally defined to be at-risk. This study looks at the availability of, attitudes towards, and government as well as insurance policies regarding prenatal genetic testing and preimplantation genetic diagnosis in the United States and Turkey, specifically with regards to thalassemia. In doing so, this project also studies how religious bioethics respective to each country can impact the provision of genetic services. Given different conceptions of personhood in Islam as compared to Christianity, preimplantation genetic diagnosis for thalassemia is less controversial in Turkey than in the US. Also, because thalassemia has historically been viewed as a public health risk in Turkey, the Turkish government’s public healthcare system promotes thalassemia health campaigns and provides full coverage of genetic tests, unlike in the US where public awareness of the risk of thalassemia is much lower. Such findings can inform future policies in both countries, especially given that thalassemia is currently on the rise in the United States.
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Table of Contents Executive Summary......................................................................................................................... 1 Table of Contents ............................................................................................................................ 2 Report ............................................................................................................................................. 3 Introduction……………………………………………………………………………………………………..……………3 Research……………………………………………………………………………………………………..…………………7 Findings……………………………………………………………………………………………………………………..….8 Conclusions and Implications…………………………………………………………………….…………………12 Recommendations and Future Work………………………………………………………………......….…..12 Works Cited ................................................................................................................................... 13
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Report I. Introduction Prenatal genetic testing and preimplantation genetic diagnosis are relatively new fields of medicine that have developed in the last few decades. They allow geneticists to assess the physical status of a fetus or an embryo (respectively) during pregnancy or even before implantation. Preimplantation genetic diagnosis, more specifically, is an early method of prenatal diagnosis in which embryos that are created in-vitro are analyzed for defined genetic defects, and only those which are free of defects are returned to the womb for implantation (Sermon, Steirteghem and Liebaers). This genetic technique is mainly used in two indication groups: individuals who are at high risk of having a child with a genetic disease or individuals who are undergoing in-vitro fertilization (IVF) treatments, in order to improve the success rate of IVF (Braude, Pickering and Flinter). The first published use of preimplantation genetic diagnosis in a clinical setting was reported in UK in 1990, which led to much change in the healthcare legislation of the UK and other countries with regards to research surrounding embryos (Appold). Prenatal genetic testing is a means by which certain genetic disorders can be detected and diagnosed during pregnancy, using procedures such as blood counts, amniocentesis and chorionic villi sampling (Han and Ryu). Such methods can be used to identify pregnancies that are at risk for certain diseases in order to allow for early treatment, which is often associated with higher quality of life for the patient (Han and Ryu). Though the use of preimplantation genetic diagnosis and prenatal genetic testing is growing, there is much debate surrounding the ethicality and use of such genetic procedures. Some people argue for the promise that such genetic technology offers in advancing human health by providing information about and preventing the incidence of genetic diseases, while others believe that such testing could lead to harmful consequences, especially in the context of religious bioethics (Allyse, Minear and Berson). Specifically with regards to preimplantation genetic diagnosis, there are concerns that it will be used for purposes other than the prevention of genetic disease through the selection of a healthy embryo, such as screening for susceptibility conditions, screening for late-onset diseases, HLA matching for existing children in the family, and sex selection (Shenfield). These uses are typically not considered to be valid reasons that necessitate the preimplantation genetic diagnosis procedure. For instance, allowing parents to use IVF procedures in order to obtain HLA-matched embryos that could serve as a tissue match for an older sibling who is seriously ill creates the ethical dilemma of “possible instrumentalisation of the future child,” leading to the use of a person as a “mere means for a specific end,” leading to “concerns about the welfare of the future child” (Shenfield 313). Similarly, preimplantation genetic diagnosis could be used to select an embryo with a particular sex, thus bringing up “the general question of eugenic practices,” or the selection of specific genetic traits in embryos in order to produce certain desired characteristics in progeny, which is frowned upon in most societies (Shenfield 312). Preimplantation genetic diagnosis used in the context of preventing the incidence of genetic disease is especially troublesome because this technique involves two ethically-charged processes: creation and selection of embryos based on genetics, and the discarding of embryos that are deselected (Allyse, Minear and Berson). There are concerns that the genetic screening allowed by preimplantation genetic diagnosis could eventually encourage a trend towards the 3|Page
creation of a eugenic world, with designer children created through the routine use of genetic selection techniques. The ethical objections brought up about this genetic technique parallel those used in debates on abortion and embryonic stem cell research, and they are generally grounded in cultural and religious conceptions of the personhood and consequent rights of an embryo, in the sense that certain embryos must be deselected in order to select for one without the genetic disease in question (Allyse, Minear and Berson). The concerns regarding embryonic selection can also stem from religious views about the nature of human reproduction, such as the view that human reproduction is a “gift� that should not be tampered with (Robertson). On the other side of the debate, those who are in support of preimplantation genetic diagnosis argue that preimplantation genetic diagnosis is ethically acceptable when done for valid reasons, such as preventing serious genetic disease in progeny. This, they argue, also brings the added benefit of preventing selective abortions due to such diseases because preimplantation genetic diagnosis allow for a viable and healthy embryo to be selected even before implantation (Shenfield). The use of preimplantation genetic diagnosis is also supported by the argument that it allows couples who are at serious risk for producing offspring that have genetic diseases to still have children, by preemptively screening embryos (Allyse, Minear and Berson). Studies have shown that preimplantation genetic diagnosis may reduce the risk of passing a particular genetic disease onto a child by up to 50% (Appold). One of the main ethical concerns with prenatal genetic testing is that it may increase the frequency of abortions, because it allows for the diagnosis of genetic disorders during pregnancy and thus introduces the issue of whether or not to terminate a pregnancy if the offspring is known to have a particular genetic disease (Han and Ryu). This again brings up the debate of eugenics, as those fetuses that are shown to have or be at risk for certain genetic conditions that are not seen as ideal or favorable could be aborted (Parens and Asch). However, those who support of prenatal genetic testing cite studies, as previously mentioned, which show that early diagnosis of certain genetic conditions can lead to early treatment efforts that typically have better clinical outcomes, and the results of the test can lead to greater preparedness on part of the parents with regards to any special needs that the baby could have due to a particular genetic condition (Remennick). With regards to both prenatal genetic testing and preimplantation genetic diagnosis, a few other important ethical considerations include the fact that both genetic procedures could be connected to a larger disability movement, where couples’ choices can impact people living with disabilities or genetic diseases by maintaining the conception that genetic diseases or conditions are negative and should be selected against (Rapp). Also, with regards to a more anthropological critique of prenatal genetic testing and preimplantation genetic diagnosis, such procedures can be seen as leading to the overmedicalization of the female body and pregnancy, which encourages the use of invasive biomedical interventions (Rapp). When considering both preimplantation genetic diagnosis and prenatal genetic testing, it is generally agreed that all such genetic procedures require informed consent in the United States, though this practice varies between countries based on cultural context and public health situations (Parens and Asch). Currently, in the United States, there are no specific federal or state provisions that address particularly the conditions surrounding application of preimplantation genetic diagnosis, and the decision is largely left to the treating physician and the parents (Appold). It is 4|Page
legal in most countries, especially in conjunction with assisted reproductive technology, except in a few cases such as Switzerland and Australia (Appold). With regards to prenatal genetic testing, the US has allowed for routine prenatal screening and testing during pregnancy, through methods such as amniocentesis and maternal serum alpha fetoprotein screening, since 1970 (Appold). Though it has seen a rise in private healthcare, Turkey largely provides public healthcare for its population under the Ministry of Health, with two tiers based in the central and local governments (Agartan). Under this system, there is a government mandate for premarital screening, where couples must present evidence of health certificates in order to be married. In this way, the government can identify couples who are carriers for certain diseases and thus who have higher risks of conceiving offspring with those diseases. This premarital screening process was passed into law in 1993 under the Ministry of Health (Balci, Ergin and Polat). The Turkish law has special regulations that allow the use of IVF and preimplantation genetic diagnosis in order to avoid congenital disease, especially in high-risk situations, listed under the title “Assisted Reproductive Treatment and Assisted Reproductive Treatment Centers Regulation” (Balci, Ergin and Polat). Thalassemia is a disease that involves a disruption of either the alpha or the beta chain of hemoglobin (Figure 1), which is a protein in erythrocytes that transports oxygen (Cunningham, Macklin and Neufeld). The disease leads to anemia in the patient, and can lead to stillbirth or major health complications if very severe. Figure 1. A close-up view of erythrocytes in a patient affected by thalassemia. The disease is manifested through the irregular morphology of the erythrocytes, which hinders their oxygen-carrying capacity.
There are two main types of thalassemia, which are called “alpha” and “beta,” and are categorized based on which part of the hemoglobin is defective (Cunningham, Macklin and Neufeld). Both forms of thalassemia are inherited in the same manner, through an autosomal recessive pattern (Figure 2). Carriers of the disease are said to have thalassemia minor, and they generally do not display symptoms. Those people who receive copies of the faulty gene from both parents have thalassemia major, and they have the disease (Center for Disease Control and Prevention). Generally, individuals who have alpha thalassemia have milder versions of the disease in comparison to those who have beta thalassemia. Treatments for thalassemia include blood transfusions, and those individuals who have thalassemia major require antibiotics, regular blood transfusions and extensive hospitalization and medical care. Symptoms of the disease are often seen early in life, if not diagnosed through prenatal genetic testing, and include listlessness, fatigue, delayed growth, jaundice, and poor appetites. If untreated, thalassemia can lead to brittle bones and enlarged spleen, liver, and heart. Infection and heart failure are the leading causes of death if children remain untreated, based on the 5|Page
severity of the particular case (Center for Disease Control and Prevention). Thalassemia is one of the most common monogenic diseases seen around the world, though historically it has been localized largely to tropical and subtropical regions of the world (such as Southeast Asia, the Indian subcontinent, and the Middle East), as well as in the Mediterranean countries. Population migration has contributed largely to the global spread of this disease to Europe, North and South America, as well as Australia, such that now it is thought to have a much larger global burden than ever before (Luo, Boudreaux and Steinberg). Published statistics state that at least 1.5% of the world’s population is reported to be a heterozygote or carrier of βthalassemia, though this statistic may be much higher given that many cases, especially in Asian countries, often go unreported due to the lack of a proper healthcare infrastructure that could provide surveillance or monitoring functions (Colah, Gorakshakar and Nadkarni). Figure 2. Pattern of inheritance of hemoglobin genes from parents with the thalassemia trait. As shown, the couple has a one in four chance of inheriting two thalassemia genes and thus having a severe form of thalassemia (also known as thalassemia major).
Turkey, a Mediterranean country, has a high rate of thalassemia and abnormal hemoglobin disorders that is typical for countries in this region (including Greece, Italy, West Asia, and North Africa) (Center for Disease Control and Prevention). As a largely Islamic country, Turkey has a high rate of consanguinity, which has remained at 20-25% for the past 25 years. This has been shown in various studies to also be linked to the abnormally high incidence of various rare autosomal recessive diseases, such as thalassemia, in the Turkish population (Tuncbilek; Balci, Ergin and Polat). The United States, whose population is not largely of Mediterranean ancestry, on the other hand, has a much lower rate of thalassemia, though it is still a common monogenic disease encountered in various parts of the country. Additionally, as a largely Christian country, the US does not report to have any increased rates of transmission of genetic disorders due to practices of consanguinity, unlike in Turkey as described above. However, studies from the United States have shown that thalassemia is more common and diverse in this country than generally thought of, and only four out of the forty participants who had clinically significant cases of the disease were of Mediterranean ancestry (Luo, Boudreaux and Steinberg). The epidemiology of thalassemia in North America had been reported to reflect a very heterogeneous group of diseases manifested in people of different ethnicities and showing altered genotypes in comparison to what is typically reported (Luo, Boudreaux and Steinberg). This increases the danger of the disease as well as its potential to be found in nontraditional populations, since new genotypic versions of the disease have been discovered that are different from the commonly-known genotypes (Vichinsky, MacKlin 6|Page
and Waye). Therefore, in addition to the global spread of the disease through migration as mentioned previously, thalassemia is also spreading in terms of its genetic manifestation, as it is now shown to impact populations that are not traditionally considered to be at-risk (Colah, Gorakshakar and Nadkarni; Luo, Boudreaux and Steinberg). Given the information above, there is a great need for the study of thalassemia with regards to prenatal genetic testing and preimplantation genetic diagnosis, because this disease is rising in prevalence worldwide both in its traditional form and in new genetic manifestations. This project studies the availability of, attitudes towards, and government policies regarding genetic testing and preimplantation genetic diagnosis in the United States and Turkey, specifically with regards to thalassemia. In doing so, this project also looks to study how the influence of religion, Islam as compared to Christianity, can impact the provision of genetic services with regards to this disease. Such analysis is aimed at understanding how the intersection of religion, culture, and law can impact health outcomes in countries as diverse as the United States and Turkey. II. Research This investigation uses various research methods in order to provide a comprehensive analysis of the study as described above. Through a multimodal approach, this investigation aims to provide an insightful discussion regarding perceptions of preimplantation genetic diagnosis and prenatal genetic testing in Turkey and the United States. Ethnography was used in order to understand the disease and perceptions of the disease from an academic or physician’s perspective, through formal interviews with physicians from Koc University School of Medicine, Koc University School of Nursing, Acibadem, and Texas Children’s Hospital. Koc University School of Medicine is a relatively new institution which has an associated training hospital, and is housed partly on the Koc University campus. Koc University School of Nursing is part of the Koc University system, and it works closely with the American Hospital in Istanbul. Acibadem is a private health facility in Istanbul which is part of the Acibadem Healthcare Group of Turkey. It is known to be one of the leading institutions in Turkey in the field of private healthcare, and has a partnership with IHH Healthcare Berhad which has made it the world’s second largest healthcare chain. Texas Children’s Hospital is one of the most highly-ranked pediatrics hospitals located in Houston, Texas in the Texas Medical Center. Site visits were conducted to the Koc University School of Medicine as well as the Koc University School of Nursing, Texas Children’s Hospital, and Acibadem. These interviews were meant to provide context into understanding the perceptions of geneticists or other healthcare professionals with regards to general social attitudes towards prenatal genetic testing or preimplantation genetic diagnosis for thalassemia. These interviews were also designed to provide information with regards to how religion impacts expecting parents’ views on preimplantation genetic diagnosis or prenatal genetic testing for thalassemia. Much of the substantial research came from such in-person, open-ended interviews conducted with faculty from both medical institutions. All interviews were recorded. Two physicians from Koc University Medical School were also interviewed through online correspondence. These interviews were especially useful because the healthcare professionals and geneticists frequently come into contact with and interact with expecting parents, so they directly work 7|Page
with the target population and can make statements with regards to major trends or patterns that they see amongst this population. Participant observation was also used in this study in order to provide more information on patient perceptions of genetic testing and preimplantation genetic diagnosis in the United States. Clinical rounds under the direction of two physicians in the Pediatric Genetics Department of Texas Children’s Hospital were observed. These physicians, Dr. Amber M. Yates and Dr. Lakshmi L. Srivaths, work directly with thalassemia patients, so the clinical rounds provided substantial information regarding the types of decision models used and the types of factors that are taken into consideration by expecting parents when determining the need or desire for the abovementioned genetic procedures. Direct participation in clinical situations where expecting parents were informed about and counseled with regards to thalassemia in their children elucidated the various concerns, questions and issues that the parents are seen to express during this process. However, since only a small sample of 10 families was observed, these observations may not be completely representative of the general population. The third major research method implemented in this study is more quantitative, and is derived from literature reviews of data collected from hospitals in Turkey and the United States. Analyzing statistics regarding the prevalence of thalassemia in both the United States and Turkey, and comparing this data to the reimbursement policies surrounding prenatal genetic testing and preimplantation genetic diagnosis in both countries, can provide more information regarding public perceptions of these procedures. This also provides context into how the healthcare system in each country responds to the relative prevalence and threat of thalassemia in its respective population, with a focus on prenatal genetic testing and preimplantation genetic diagnosis. III. The Findings Government and Insurance Policies Key findings from formal interviews in Istanbul and literature reviews of Turkish and US healthcare policy include the following: the Turkish government has a publicly-funded healthcare system that completely covers the cost of prenatal genetic testing and substantially covers the cost of preimplantation genetic diagnosis, especially in cases where the risk is high (Balci, Ergin and Polat; Seven). The government has established a national program to reduce the incidence of hemoglobinopathies, by eliminating risky pregnancies through genetic screening and counseling. The first bill to address genetically transmitted hematological diseases was passed in 1993 (called “Fight Against Hereditary Blood Disease”), and in 2000 a council was established through a collaboration between the Ministry of Health, NGOs, and academic institutions in order to put forth a more serious effort in reducing the incidence of diseases such as thalassemia (Orer). Thalassemia screening centers were also established around the country starting in 1994 (Alanay). As mentioned earlier in the paper, couples in Turkey are required (especially in the 33 “high-risk” provinces) to get a health screening (Thalassemia Premarital Screening Program) before receiving their marriage license, which informs them of whether or not they are carriers of thalassemia (Seven). The general reasoning behind such government-mandated screening is that it facilitates informed reproductive decision-making in the preconceptional period, and it is thought to increase equity and reduce stigmatization that getting such tests could have if they were not mandated and instead were 8|Page
elective (Teeuw, Loukili and Bartels; Alanay). Turkey allows for gender selection only in cases where the child is at high risk for thalassemia, in which case parents are allowed to select for an embryo without the disease through IVF (Orer; Alanay). Turkey also has other government-led education initiatives, such as the National Thalassemia Prevention Campaign (Ruacan; Canatan, Aydinok and Kihnc). The United States, on the other hand, does not have any government policies or public health campaigns regarding thalassemia (Srivaths; Yates). This is starkly in contrast to the Turkish government policies as outlined above. Also, in the United States, the cost of procedures such as preimplantation genetic diagnosis can be prohibitively high (Russell). This is because preimplantation genetic diagnosis requires in-vitro fertilization, which is not covered by many health insurances (National Conference of State Legislatures). Since the 1980s, there are 15 states in the U.S. that mandate coverage for infertility diagnosis and treatment, but in the other 35 states most insurance plans do not provide much assistance with payment for invitro fertilization services, which are often very costly (National Conference of State Legislatures). The Perceived Risk of Thalassemia In Turkey, premarital screening is done in about 81% of all marriages, as reported in 2008 (Canatan, Aydinok and Kihnc). Though 91% of the couples interviewed in one study agreed with the importance of the premarital screening program, in terms of reducing the prevalence of genetic diseases, only half of the couples had heard about thalassemia, mostly from television programs, the Internet, and newspapers (Balci, Ergin and Polat). Furthermore, according to the study, 82.5% of the participants in the study did not know how thalassemia is passed down, and only 41.6% of the participants believed that thalassemia is a preventable disease (Balci, Ergin and Polat). This study also found that knowledge of thalassemia positively correlated with the age and education level of the participants (Balci, Ergin and Polat). Awareness is increasing in urban areas of Turkey, but those of lower socioeconomic status and disadvantaged backgrounds often are less informed about the disease (Orer). Thus, there is a need for an increased awareness of thalassemia and its risks amongst the Turkish population, which the current government is actively trying to promote through national education programs and campaigns in schools. This is especially important given the fact that the prevalence of the β-thalassemia carrier gene can reach 8-10% in certain focal areas such as the Thrace, Mugla, and Antalya regions, where it is a major public health problem (Orer). Though people may know about the disease, they do not know what it does or how it is transmitted, which is crucial information. However, according to practicing physicians in Turkey, those who do know of thalassemia view it as causing as much of a disability as diabetes or heart disease are seen to cause in the United States population – it reduces quality of life, especially given that rates of unemployment are higher among thalassemia patients – but it does not preclude the affected individual from working or getting married and building a family (Orer; Alanay). In the United States, there is a significant lack of public awareness regarding thalassemia and screening for thalassemia, because traditionally this disease has been seen as localized to the Mediterranean countries and those people who have Mediterranean ancestry (Srivaths). Based on information from literature reviews, pregnant women in the United States are generally found to have a lack of awareness regarding genetic testing (Cousens, Gaff and 9|Page
Metcalfe). In a study evaluating public awareness of thalassemia amongst those Americans who are most at-risk to have or be carriers of the disease (due to Mediterranean ancestry), only 19% had heard of thalassemia (Cousens, Gaff and Metcalfe). This number is starkly lower than those cited above for Turkey, because of the lack of governmental education programs for the general public and the lack of training of health professionals. Also, Americans are not required to have premarital screening in order to receive marriage licenses, so they are often not aware if they could be carriers for the disease. More often than not, the perceived risk of thalassemia is most acutely understood in American families that have a familial history of thalassemia (Yates; Srivaths). Based on interviews with hematologists at Texas Children’s Hospital, patients often do not know much about prenatal genetic testing or preimplantation genetic diagnosis other than the standard triple or quad screen that is offered to all women who are pregnant, to detect trisomy 21 and neural tube defects (Russell; Srivaths; Yates). One interesting point of comparison between the two countries stems from their cultural practices with regards to marriage. The fact that Turkish and Islamic cultural practices generally make it uncommon to have children before marriage, combined with the fact that the Turkish government requires couples to have premarital screening for genetic diseases such as thalassemia, means that most couples who are going to have children already are aware of whether or not they carry the gene for thalassemia, and thus already understand the risks (Seven). This may influence parents to be more proactive in seeking genetic testing or preimplantation genetic diagnosis. In the United States, however, there is a higher rate of having children before or outside of marriage, and even if married, couples are not required to undergo genetic screening. This may lead to a lower knowledge about thalassemia risk and influence public perceptions regarding prenatal genetic testing and preimplantation genetic diagnosis for the disease. However, though premarital screening is mandatory in Turkey, it is often done with a blanketed consent and individuals who are tested are often not aware that they are being screened for thalassemia unless they are found to be a carrier for the disease. This is in conflict with dominant views in the United States regarding informed consent, where the predominant opinion is that informed consent is necessary before any type of procedure can be carried out (Rapp). Despite this view, surveys done in the United States have shown that faced with numerous options of genetic tests offered to them and no set requirement or standard to rely on, pregnant women often are overwhelmed and do not have a clear understanding about what the tests offered are designed to detect (Cousens, Gaff and Metcalfe). Public and Physician Perceptions on Prenatal Genetic Testing and Preimplantation Genetic Diagnosis Overall, Turkey seems to have a greater public acceptance for and use of prenatal genetic testing and preimplantation genetic diagnosis with regards to thalassemia than the United States. This may be due to a combination of factors, including the higher prevalence and perceived risk of thalassemia in Turkey than in the United States, as well as the existence of many government campaigns promoting screening for thalassemia. Also, Islamic bioethics invalidate some of the arguments that are popular in the United States to prevent the use of preimplantation genetic diagnosis from an ethical standpoint, because the Islamic religion does not see the embryo as being a person, and sees personhood as starting at the point of 10 | P a g e
implantation (Karahuseyinoglu). Therefore, deselection of embryos before implantation is not ethically troublesome because they are not considered to have personhood yet (Seven). Also, as previously mentioned, there is a generally higher awareness of thalassemia in Turkey than in the United States. Furthermore, given that the Islamic culture promotes consanguineous marriage, it is fitting that this population is more aware of and willing to use such techniques in order to prevent the spread of genetic disease that accompanies their cultural practices. However, one cultural factor stemming from the Islamic religion that would prevent the use of prenatal genetic testing and preimplantation genetic diagnosis would be the “fatalist� attitude that promotes a mindset of accepting whatever hardships a person must face in life, even if they are entirely by chance (such as genetic disorders), because it is a way in which people repent past sins or transgressions (Orer; Seven). However, this attitude is only common in low socioeconomic classes that are not highly educated, and it is overcome by the governmentmandated policy for genetic screening before marriage (Alanay). In the United States, the predominant religion is Christianity, so Christian bioethics often can be seen to shape public perceptions (Yates). Certain branches of Christianity see personhood as beginning at the point of fertilization (Yates; NPR). This is a very different view from that predominant in Islam as described above, in which personhood is seen at the point of implantation. Therefore, one factor driving the lower rate of use of prenatal genetic testing and preimplantation genetic diagnosis (besides the fact that these are not supported by the government or completely covered by insurance, as described previously) is the fact that deselection of embryos can be viewed as ethically wrong since the embryos are considered to be persons. In both Islamic and Christian faiths, abortion is discouraged and is not commonly practiced. After speaking with faculty and physicians from Koc University School of Medicine, Koc University School of Nursing, and Acibadem Hospital, the common messages seems to be that though abortion is legal in Turkey, it is highly discouraged by the current government, and thus it is very difficult to find clinics that will actually carry out abortions (Karahuseyinoglu). In the United States, based on the 1973 landmark Supreme Court decision in Roe v. Wade, the current policy regarding abortion is that it is legal, but may be restricted by individual states to varying degrees (United Nations Department of Economic and Social Affairs). Based on interviews with physicians in both countries, there is an attitude in the general populations of both countries that abortion should be regulated to at least a certain extent (Srivaths; Seven). Though thalassemia is not typically a cause for parents to elect for an abortion, given that it can be treated and managed even in severe cases, the desire to avoid abortion could be an additional factor contributing to the acceptance and use of preimplantation genetic diagnosis for thalassemia in Turkey (Ruacan). In both nations, the perceptions on prenatal genetic testing and preimplantation genetic diagnosis are also highly influenced by familial history of the disease. According to physicians in both countries, if a particular family has had multiple members who have thalassemia and have done well with measures such as transfusion therapy, they may have a lower perceived need for prenatal genetic testing or preimplantation genetic diagnosis (Yates; Srivaths). This is because to them, such measures would be deemed as an unnecessary financial undertaking and ethical dilemma given that they have seen the disease be completely and successfully treated via other measures after the child is born (Yates). Additionally, in both countries, more 11 | P a g e
people know about prenatal genetic testing in comparison to preimplantation genetic diagnosis, and parents in both countries are known to express concern regarding the medical risks that prenatal genetic testing or preimplantation genetic diagnosis can cause to the pregnancy or to the mother, which is a major factor they take into consideration when making their decision of whether or not to have the procedure done (Srivaths; Alanay). The perceptions of the physicians interviewed in both nations seem to align as well, because all hold a positive view of prenatal genetic testing. However, most physicians were neutral with regards to preimplantation genetic diagnosis, and preferred to allow parents to make the decision (Alanay; Srivaths). Hematologists at Texas Children’s Hospital are reported to work with the Prenatal Genetic Counseling Group at Baylor College of Medicine, encouraging patients to seek more information about their pregnancy, especially if they have a family history of thalassemia (Yates). All doctors interviewed mentioned that they review both preimplantation genetic diagnosis and prenatal genetic testing with expecting parents who have a familial history of thalassemia, but allow the family to make the ultimate decision (Yates; Alanay; Srivaths). However, the average practitioner in both countries is reported as not being completely knowledgeable about these genetic procedures, mostly because a large proportion of currently-practicing generalist physicians went to medical school before the sequencing of the human genome and the advent of such technologies, so they were not trained to give such a large consideration to genetic factors (Alanay). IV. Conclusions and Implications In conclusion, information synthesized from an extensive literature review and from formal interviews of professors and medical professionals in both the US and Turkey has demonstrated that in comparison to the United States, Turkey has more population and governmental support for prenatal genetic testing and preimplantation genetic diagnosis with regards to thalassemia. This can be attributed to the interplay of multiple factors, including the higher prevalence and perceived risk of thalassemia in Turkey than in the United States, as well as the presence of more government policies and campaigns supporting genetic screening and thalassemia education. There is also more insurance coverage for such genetic procedures in Turkey. Islamic bioethics invalidates some of the ethical arguments that are used in the United States to prevent the use of preimplantation genetic diagnosis, and Islamic practices of consanguineous marriage put the Turkish population at a higher risk for the spread of genetic disorders, making it increasingly important to foster public awareness of such preventative genetic measures in Turkey. Therefore, people in Turkey more frequently utilize genetic testing and preimplantation genetic diagnosis for thalassemia than people in the United States, especially because the Turkish government allows people who are at high risk for having children with thalassemia to choose the sex of their child through in-vitro fertilization so that the embryo with the least chance of having the disorder will be implanted. However, a higher acceptance or rate of abortion is not seen Turkey in comparison to the US, even though there is a higher use of prenatal genetic testing for thalassemia, due to Islamic views and governmental policies that look negatively upon abortion. V. Recommendations and Future Work 12 | P a g e
Future work in this area of research should involve more extensive population surveys with regards to attitudes on and awareness of prenatal genetic testing and preimplantation genetic diagnosis when dealing with thalassemia, given that the conclusions in this study are based on interviews and observations of very small data sets. Given the growing risk and incidence of thalassemia in the United States, especially with the discovery of new genotypes that affect people who are not of Mediterranean ancestry, it is important that the United States provide increased public education about genetic diseases such as thalassemia, in line with the campaigns promoted by the Turkish government. Though the use of preimplantation genetic diagnosis and prenatal genetic testing has not definitively proven to be beneficial, because these techniques are still very new and require much ethical consideration, it is still important for the public to be aware of diseases such as thalassemia and how they are transmitted, as well as what genetic procedures are available with regards to prevention or treatment. This is not necessarily to increase the rate of preimplantation genetic diagnosis or prenatal genetic testing, but just to promote population awareness. Increasing health literacy in this way will improve the general health of the population as a whole.
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