Pre-implantation Genetic Diagnosis:
An Ethical Solution for Infertility?
By: Kyle M. Yoder
Goshen College, Goshen, IN
Professor Stanley Grove, PhD.
November 21, 2006
Thesis:
Pre-implantation genetic diagnosis (PGD) is a new genetic testing procedure used around the world that could be used unethically, but does have incredible advantages and promise to assist couples struggling with infertility.
Outline
I. Introduction & Background Information
II. Technology, Choices, View points, Concerns & Projections
III. Conclusion
Introduction & Background Information
Infertility
Infertility is a health condition that affects many people, both men and women, in the United States. In 2002, twelve percent of the female population, between the ages of fifteen and forty-nine, was infertile. Nouriani (2006) defines infertility as the inability to become pregnant within a year of attempting to do so or a woman who has repeated miscarriages. Out of all the cases of infertility, about one-third of them are a female problem, one-third a problem with the male and the rest are a combination of the two or never diagnosed. In women, the most common problems of infertility are not ovulating, blocked fallopian tubes and problems with the uterus. In men, the most common issues of infertility are due to a low sperm production or deformed sperm that are unable to reach the egg in fallopian tubes (Nouriani, 2006).
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In vitro fertilization
How or where do these people seek treatment? In the United States, in 2002, there were four hundred twenty-eight assistive reproductive technology clinics, also known as fertility clinics (CDC, 2006). When patients seek out treatment at these clinics, two-thirds of them will be prescribed medication or have surgery as the first steps in solving their problems of infertility. Many others use assistive reproductive technologies (ART), and the most successful of these is in vitro fertilization (IVF). IVF is the process of removing mature eggs from a female and fertilizing them in a laboratory with sperm (Nouriani, 2006). How successful is this technology? The Infertility Center of Saint Louis reports that it had a success rate of forty-one percent for women under the age of thirty years old since 1980 (Silber). A new technology, as described below, has appeared to assist in the increasing of this percentage.
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Pre-implantation Genetic Diagnosis
Pre-implantation Genetic Diagnosis (PGD) is a relatively new procedure that is coupled with IVF to increase a couple’s odds of getting pregnant (Silber). The idea of an embryo biopsy was first tested in rabbits in 1968 by Edwards and Gardner. In the 1980s, this procedure was further developed in humans in the United Kingdom, and is now known as PGD (Marik, 2005). Since the technology was founded, over two thousand babies have been born using PGD with IVF (Popp, 2005).
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Technology, Choices, View points, Concerns & Projections
Procedure of IVF and PGD
How is the procedure done? In vitro fertilization must first occur before an embryo can even exist for PGD. This is done by stimulating the female’s reproductive system to produce many eggs. The eggs are then retrieved during a thirty minute procedure. These eggs are then put in a Petri dish with a sample of semen or intracytoplasmic sperm injection is done to inject a single sperm into it. This embryo matures for about three days until it is at the eight cell stage. At this point, PGD is able to be done. One or two cells are removed from this zygote to be tested by PGD. If this embryo is fine then it is implanted into the woman’s uterus. (Marik, 2005).
The one or two cells removed from the embryo are tested using one of two methods. They are either tested by a process called polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH). The two testing processes detect different abnormalities with the embryo. PCR is a technique used to test for single gene defects. FISH detects the sex of the embryos, for X-linked disorders, aneuploidy or chromosome abnormalities. FISH is a more reliable test because PCR can be easily contaminated by other DNA from sperm still present in the sample (Marik, 2005).
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Who receives the treatment?
Are all couples who decide to use IVF able to have PGD? There are a few stipulations before PGD is used. PGD is normally used on embryos where the woman is over the age of thirty-five because of the age of the eggs and risk of abnormal chromosomes. It is also used for women with recurring miscarriages and difficulty getting pregnant by IVF. Another occasion for its use is when one or both parents have a history of genetic disorders that PGD is capable of testing (Krussel, 2003). Finally, it is used when intracytoplasmic sperm injection (ICSI) accompanies the process of IVF (Silber).
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Advantages
All of the above tests improve the odds of a couple becoming pregnant. When an embryo has the incorrect number of chromosomes, also known as aneuploidy, it will most likely end in a miscarriage (Marik, 2005). This is common even in fertile couples and accounts for a low fifteen to twenty percent chance of becoming pregnant per month (Silber). However, testing for aneuploidy can avoid implanting embryos in the woman’s uterus that are chromosomally abnormal (Marik, 2005). When IVF was typically done in the past, multiple embryos needed to be implanted to increase the odds that the woman would become pregnant. At times, this would create a multiple birth scenario where more than one embryo implanted. With PGD, however, this can be avoided because fewer embryos need to be implanted if a viable embryo is found (Munne, 2003).
Another advantage to PGD is that it can test for genetic disorders such as Trisomy 21, Tay-Sachs disease, cystic fibrosis, Duchenne’s muscular dystrophy and Fragile X syndrome (Elsner, 2003). There are many more diseases that can be detected. When these diseases are detected by using PCR or FISH techniques, they are not implanted into the woman and the passing on of genetic disorders is avoided (Elsner, 2003). All of these advantages are balanced by some disadvantages to the procedure.
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Disadvantages
The procedure of PGD is very expensive. It is only recommended to the above couples because of this reason (Silber). The cost of IVF and PGD is around fifteen thousand dollars of which the majority is for IVF (Popp, 2005). An alternative to having the fertility center do the procedure is to ship the embryos to a different existing PGD laboratory where the cost can be slightly less, but still expensive (Munne, 2003). Due to this expense, many infertile couples cannot have the procedure done, and may possibly not be able to have any ART at their disposal. This allows for great inequality because only the rich could afford to have the treatment done. There is also opportunity for other ethical and moral concerns with this procedure.
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Ethical, moral, religious concerns
It seems possible for this procedure to breed injustice and prejudice against groups of people. Since the poor cannot afford to use this procedure they will have difficulty reproducing if they have fertility problems. However, if the rich can afford this then many children will be born to these families and a gap will begin to form between social classes. The rich will be able to reproduce with great ease, but the poor will struggle to become pregnant. Is this eugenics? A survey done by the Genetics and Public Policy Center revealed that “[people] of all social and ethnic backgrounds voiced fears that advances in reproductive genetic technologies may lead to a new era of eugenics” (Popp, 2005). This is an injustice and the procedure needs to be offered to all couples based on their fertility status and not there financial status. Should the government cover costs of fertility treatment so that there is a level “playing field”, or should these couples be encouraged to adopt the many children who do not have loving homes and are kept in foster care? That is an issue not to be discussed in this paper, but is a question to stew over.
Another opportunity for prejudice is the testing of embryos for genetic disorders. When they are tested for genetic diseases and mutations are discovered, the embryos are discarded, or at least not implanted into the uterus and are frozen (Silber). Physicians and parents are deciding that these human embryos are less valuable because they will develop into people who are chronically sick. It is reasonable for a parent to want their child to be healthy and grow, but the message being sent is that people with genetic disorders are less than healthy humans. This is a great injustice. Trisomy 21, also known as Down syndrome, is an example of this. Children with Down syndrome grow and live for a substantial amount of time. They can communicate, play and interact in an environment just like any other person. They can live very fulfilling lives, but an embryo discovered with Trisomy 21 would not be implanted in the uterus. Parents do not want to take care of special needs child for the rest of their lives. The public is essentially saying that Down syndrome children or adults are less desired than other people. This is very immoral, and should not occur in a society where human rights are so prevalent.
Another controversial topic that PGD has initiated is the idea of sex selection. This is primarily done to avoid sex-linked disorders, but now fertility clinics are offering it to couples who want a specific gender. There is concern that there could be gender favoritism as there is in China, and cause an imbalance of genders (O’Keefe, 2004). It is unknown what the social effects will be due to sex selection (Lane, 2004). However, the U.S. is skeptical of sex selection using PGD with only thirty-nine percent approval (Popp, 2005). Christians are asking whether or not this sex selection process is playing God (Lane, 2004). Conservative evangelicals are only twenty-seven percent in favor of sex selection for family balance (Popp, 2005). It appears as if the public is cautious of the implications that PGD can have on society.
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World view
The U.S. may be cautious, but they still allow PGD to be used. In Germany, this was not the case. As of 2002, Germany had not lifted its ban on PGD (Orellana, 2002). An advisory committee voted overwhelmingly against lifting the ban because of the destruction of living embryos and the discrimination against certain people. A committee member was quoted as saying, “we shouldn’t break a taboo because of the very few families affected by genetic illnesses. Experience from countries where PGD is allowed, such as the USA, shows that the demand for screening comes not from those at risk of having children with genetic illnesses but from those wishing to increase the IVF success rate . . . which is an even weaker ground for allowing PGD” (Orellana, 2002).
In Australia, a study was performed to test different couples' agreement or disagreement to undergo testing for Huntington’s disease. The final results showed that most couples, after hearing an explanation of the procedure, decided against the test. There were a few couples who did decide to do the procedure. When their embryos had the positive result, the embryos were destroyed . These same couples did not do any more testing because of the psychological and emotional trauma that was associated with killing an embryo (Richards & Rea , 2005).
Another country that is not using PGD too hastily is Japan. There is a ban on PGD for all uses except for couples with a certainty of passing on genetic diseases. Even to do this, there is a necessary approval from the Japan Society of Obstetrics and Gynecology (Japanese Health, 2004). A court case occurred in 2004, where five couples wanted approval to use PGD. The arguments in the court were against it because of the destruction of a living embryo. A statement from the Japanese Society of Obstetrics and Gynecology “suggested that this is a highly ethical question, which should be settled through legislative measures, but not a judicial decision.” It continued by saying, “loosening the restrictions could lead to discrimination based on disabilities, genetic disorders or even sex selection” (Pre-implantation, 2004).
In Israel, the opposite of the above countries is true. “Israeli society has the highest rates of Assisted Reproductive Technologies (ART) intervention in the world, as well as the highest per capita consumption rate of infertility therapy, with In Vitro Fertilization (IVF) at its center” (Shalev & Gooldin , 2006, 151). Israel has gone so far as to include IVF in their National Health Insurance (NHI). It has come “under fire” in the past because of groups wanting to remove it from the NHI. Why has Israel gone to this extreme to include ART in their insurance programs? They are a culture of “family values” and are a very pro-natalist culture. However, people are calling for the government to reconsider the economic situation of the country and how including IVF and other ART in the countries budget is ethical or unethical (Shalev & Gooldin, 2006).
Future projections
It appears as if the rest of the world, other than the U.K. and the U.S., are somewhat cautious about biotechnology getting ahead of the ethical discussions. Are those two countries walking a fine line with a blind fold on? People in the US are concerned about PGD leading to very unethical uses. They are concerned that “advances in reproductive genetic technologies may lead to a new era of eugenics” (Popp, 2005). However, these same people do not want to restrict themselves too much. They agree that there needs to be a baseline regulation on sex selection and destruction of embryos. However, they feel that individual cases deserve individual attention and consideration (Popp, 2005). Should the federal government oversee the regulation of reproductive technologies? Should the U.S. Department of Health and Human Services set up guidelines for reproductive specialists to adhere to? These are all questions that need to be addressed in the near future.
Another grave concern is that babies will become manufactured. “…the more genetic control you’re exercising over your child’s conception, the more we move in the direction of manufacture, where children are not regarded as random gifts, but are regarded as the object of the will of the parents" (Popp, 2005). How will children be affected psychologically when they discover that they were chosen based on their sex? Even now, children are being “manufactured” as matches for sick siblings to donate cells to save their lives (Popp, 2005). Do we know the implications this has for their lives? In the future, it is plausible that parents could choose their embryo based on their physical strength, intelligence or musical ability (Genetics, 2004). These are incredible capabilities, but also allowance for incredible discrimination and prejudice.
The emotional struggle, it must be to have fertility problems, is not easily understood by the public. It is a basic human desire to want to have biological children. Thus, infertility treatments are a must to assist in the endeavor. The medical science of fertility treatments is growing rapidly. The advancement of biotechnology is most certainly ahead of its regulation and ethical discussions, but can the technologies be put on hold when millions of people are struggling? This technology is amazing and has increased the pregnancy rate, decreased the incidence of multiple births due to IVF and lessens the incidence of genetic disorders. With the increased birth rate for infertile couples, the emotional struggle decreases. Is this not enough for the U.S. to continue the allowance of PGD with the understanding that regulation may need to be in place to avoid the possibility of discrimination and “manufacturing babies”? PGD offers great promise if its unethical implications are avoided.
CDC website. 2002 Assisted Reproductive Technology (ART) Report: Section 1—Overview. Retrieved November 3, 2006, from http://www.cdc.gov/art/ART02/section1.htm
Elsner, Carlene, et. al. (2003) PGD: The Next Step in Pregnancy Enhancement and Disease Prevention or the Search for the Holy Grail of Infertility Treatment. Retrieved November 3, 2006, from http://www.inciid.org/article.php?cat=ivf&id=486
Genetics and Public Policy Center. (2004) Pre-implantation Genetic Diagnosis: A Discussion of Challenges, Concerns, and Preliminary Policy Options Related to the Genetic Testing of Human Embryos. Retrieved November 3, 2006 from http://www.dnapolicy.org/images/reportpdfs/PGDDiscussionChallengesConcerns.pdf
Japanese Health Minister chastised Doctors for genetic tests. (2004) Asia-Pacific Biotech News. Vol. 8 No. 7. P. 380.
Krussel, J.S. (2003) Pre-implantation genetic diagnosis – possibilities and pitfalls. Andrologia. P. 171-2.
Lane, Melissa. (2004, September 18) Bioethics, health and inequality. The Lancet Vol. 364. P.1017-9.
Marik, JJ. (2005) Pre implantation Genetic Diagnosis. Retrieved on November 3, 2006. http://www.emedicine.com/med/topic3520.htm
Munne, Santiago. (2003, May 15) Improved implantation after pre-implantation genetic diagnosis of aneuploidy. Reproductive BioMedicine Online. Vol. 7, No. 1. P. 91-97 Retrieved November 4, 2006, from www.rbmonline.com/Article/892
Nouriani, MD, Mory, ed. (2006) U.S. Department of Health and Human Services. Retrieved November 3, 2006, from http://womenshealth.gov/faq/infertility.htm#b
O’Keefe, Mark. (2004, May 4) Gender choice: Is it playing God? Christian Century. P. 12-3.
Orellana, Claudia. (2002, June 2) German ethics group advises against pre-implantation genetic diagnosis. The Lancet Vol 359. P. 1926.
Popp, Trey. (2005, May/June) Testing Our Ethical Limits. Science and Spirit. P. 15-7.
Pre-implantation Genetic Diagnosis of Embryos Demanded. (2004) Asia-Pacific Biotech News. Vol. 8 No. 16. P. 894.
Richards, FH and Rea, G. (2005) Reproductive decision making before and after predictive testing for Huntington’s disease: an Australian perspective. Clinical Genetics Vol. 65. P. 404-11.
Shalev, Carmel and Gooldin, Sigal. (2006) The uses and misuses of in vitro fertilization in Israel: some sociological and ethical considerations. A Journal of Jewish Women’s Studies and Gender Issues. P. 151-78.
Silber, M.D., Sherman J. (n.d.) The Infertility Center of Saint Louis. Retrieved November 4, 2006, from http://www.infertile.com/treatmnt/treats/pgd.htm