Bioethics Exercise

Scenario

Tom and Sue are professors at GallaudetUniversity in Washington, DC. Both were born deaf, and they married shortly after starting their careers at the university, 9 years ago. They are interested in having children, but unwilling to bring a hearing child into their family. Their motivation for this decision is that they perceive “deafness” not as a disability but as a necessary attribute to fully experience their intrinsic value system.

Tom and Sue recently read the story of the Nash family and how they used preimplantation genetic diagnosis (PGD) to select an embryo for their child. This child was selected by PGD to be negative for Fanconi’s anemia, but positive for an immune cell marker (HLA), allowing this child to be a suitable donor for the Nash’s first child, who was in need of a life-saving bone marrow transplant. Knowing that their deafness has a genetic basis, Tom and Sue approached GeneralHospital to request PGD on embryos they produce from IVF, in order to select a child with the genetic sequence linked to deafness.

Bioethics Exercise

May 25, 2005

1.)Please read the following scenario regarding the deaf couple who has requested to undergo PDG in an effort to choose a deaf child.

2.)After reading the scenario, the class as a whole will identify the relevant stakeholders in this case and write them down below. (hint: Try to identify more than five relevant stakeholders)

STAKEHOLDERS

3.)Once the stakeholders have been identified collectively by your class, your instructor will assign each group the task to articulate the ethical position(s) of the stakeholder your group was assigned.

4.)Each group will now orally present their arguments in the form of an oral presentation to the Executive American Reproductive Service (EARS).

5.)

Stakeholders Arguments and final Decision

Introduction:

This is a procedure that can weed out genetically defective human embryos before they have a chance to develop. This is usually requested by prospective parents who are concerned about passing an incurable genetically based disease or disorder to their child. Typically one or both partners have been genetically screened previously, and found to be a carrier.

This "technically demanding and complex procedure" was developed only recently. 5 Currently, it is only available in a few clinics worldwide. It involves the following steps:

/ The woman is given drugs to produce "super-ovulation." She normally produces many eggs, which are collected.
/ As for a standard in-vitro fertilization (IVF) procedure, the eggs are placed in a dish and are fertilized by donated sperm (usually from the woman's partner).
/ About three days after IVF, each successful embryo has divided to about the 8 cell level.
/ This photograph shows the start of the procedure. Here, a 7-cell embryo which is fixed in position with a holding pipette at the left. A second pipette, on the right is used to drill a hole through the shell of the embryo. A single cell is dislodged from the embryo with a gentle suction. * The procedure is typically performed on an embryo at the 4 to 10 cells stage of development.
/ One or two cells are removed and "subjected to a molecular analysis. This requires the removal of the genetic material— DNA. This minuscule amount of DNA is amplified, meaning multiple copies are made through a molecular process known as PCR (polymerase chain reaction). These copies are then subjected to a molecular analysis that assists in identifying the sequence (code) that will determine the inheritance of the gene in question." 8 If a genetic defect is found, then the embryo from which it was taken is destroyed.
/ Typically, three of the embryos which are free of abnormalities are implanted in the woman's womb. The others are destroyed.
/ Sometimes, none of the embryos develop into fetuses, and the procedure is repeated. Often one or even two embryos do live and develop into fetuses which are later born as single births or twins.

At this time, cells can be checked for dozens of genetically determined diseases. One site lists:

/ achondroplasia
/ adenosine deaminase deficiency
/ alpha-1-antitrypsin deficiency
/ Alzheimer disease (AAP gene)
/ beta thalassemia
/ cystic fibrosis
/ epidermolysis bullosa
/ Fanconi anemia
/ Gaucher disease
/ hemophilia A and B
/ Huntington disease
/ muscular dystrophy (Duchenne and Becker)
/ myotonic dystrophy
/ neurofibromatosis type I
/ OTC deficiency
/ p 53 cancers
/ phenylketonuria
/ retinoblastoma
/ retinitis pigmentosa
/ sickle cell disease
/ spinal muscular atrophy
/ Tay Sachs disease 11

Elsewhere on the Internet, sites also list: Fragile X syndrome, Lesch-Nyhan syndrome - Retinitis pigmentosa, Charcot-Marie-Tooth disease, Barth's syndrome, Turner syndrome, Down's syndrome and Rett's syndrome. Female ova can be also be checked for a gene that increases the propensity to develop breast cancer.

Some genetic diseases are sex-linked. For example, some are known to only be passed on to male children. Even if a particular sex-linked disease cannot be detected directly, the PGD method can eliminate all of the male embryos and implant only female embryos, thus preventing the transmission of the disease.

The first "PGD baby" was born in 1989. 1,2 By 1997, over 30 babies had been born world-wide, following the use of this technique.

Dr. Perry Phillips, an obstetrician and gynecologist, is one of the directors of IVF Canada. He said: "This is the beginning of the end of genetic disease…That's the dream of medicine. It's our dream. This should have the same impact [that] antibiotics did to bacterial disease."

Current status of the procedure:

Initial PGD research was performed in the UK during the late 1980s. It remains a rare procedure that is only available in a few clinics worldwide. It can be used to detect about 30 conditions or diseases. There is the potential that it will detect about 200 eventually. 10

According to the Sher Institute: "By the year 2000, more than 1500 couples had participated in PGD clinical trials, which are ongoing in several centers around the world, and more than 1000 PGD/IVF cycles had been performed, In virtually all of these cases, PGD was followed by early prenatal genetic diagnosis to eliminate the risk of misdiagnosis through PGD. Several such errors in PGD have been recorded to date. These pregnancies were all terminated, electively." 9

According to Anuja Dokras of the Yale University School of Medicine: "This technique is currently available to couples whose offspring are at a high risk (25-50%) for a specific genetic condition due to one or both parents being carriers or affected by the disease. Also the genetic code associated with the condition must be known in order to allow diagnosis. Currently it is not feasible to routinely screen women at lower risks, such as women over age 35 for Downs Syndrome..." 1

An article in The Guardian, a UK newspaper quotes The Human Fertilisation and Embryology Authority, (HFEA) as describing PGD as "a physically and mentally demanding process which does not bring any guarantee of success." With PGD, the live birth rate is probably even lower than the average 17% IVF success rate, and the whole procedure is considerably more expensive. 6

Objections to the procedure:

/ Conservative Christians and others typically people believe that human personhood begins at conception. This means that any destruction of an embryo is equivalent to the murder of a human person. There are a number of concerns that they have about PGD:
/ The cell that is removed could conceivably, under the right conditions, develop into a fetus on its own. But the testing will destroy it.
/ The fertilized cells that are not implanted are usually destroyed, as in in-vitro fertilization procedures.
/ If a genetically defective cell is found, then the entire embryo from which it was extracted is destroyed.
/ Dr. Patricia Baird, a geneticist who led the Canadian Royal Commission on New Reproductive Technologies said: "Because there is so much money involved, there is a real danger of premature, unwise application of this procedure." We find this comment confusing. The procedure would cost in the vicinity of $4,500 to $7,000 in US funds. One might argue that because of the high expense involved, the procedure would only be applied in unusual cases after much careful thought.
/ A genetically defective fertilized egg, if allowed to mature and cause a live birth, it would not necessarily generate a disorder or disease in the individual. Various genetic variations (called alleles) have a penetrance factor, which is a measure of their effectiveness or power. For example, the allele which causes Huntington's Disease has a 100% penetrance: if you have the allele, you will certainly develop the disease. But other genetically determined conditions have a much lower penetrance: left handedness is only about 15%; the gene(s) that cause homosexuality have a penetrance factor that is about 67% -- between that for Huntington's and left-handedness. Thus, many embryos would be killed which would never have caused a disease or disorder.
/ Some genetically caused diseases only develop symptoms when the person is in their 30's or 40's. By that time, a cure might have been found.
/ The procedure could be the start of a slippery slope. Perhaps embryos would be eliminated that might leave the individual at higher risk for heart disease, or stroke, or obesity, etc. And there is the possibility that the procedure could be used to eliminate female embryos, or embryos that would grow into adulthood with a minority sexual orientation -- bisexuality or homosexuality. This is an ironic situation: religious conservatives, who are most likely to have a strong preference for a baby that would mature as a heterosexual adult, would be exactly the group who are most opposed to PGD.
/ Some religious and social conservatives are worried that the technology could lead to the creation of babies to be used for spare parts.

Advantages to the procedure

/ Most genetic testing now is done through amniocentesis when the fetus is 12 to 16 weeks old. The results are typically available after a wait of an additional three weeks. In this, a sample of the amniotic fluid is drawn from around the fetus. A floating cell from the fetus is then found and analyzed. If the analysis shows that the fetus is genetically defective, then the parents have the option of aborting the fetus. Essentially all couples in North America and the UK do elect to have an abortion. Amniocentesis is be far more distressing than Pre-Implantation Genetic Diagnosis to most couples, because it is performed at a time in gestation when the fetus is so fully developed. The PGD technique is performed before pregnancy begins; it would avoid much of the stress and moral conflict in most couples. However, strongly pro-life couples may not differentiate morally between the destruction of a three-month fetus and an eight-cell embryo; they may consider both to be fully human persons.
/ Some adults who know that they are carriers of a genetically transmitted disease decide use contraception in order to not have children. The Pre-Implantation Genetic Diagnosis procedure allows them to have a child with full assurance that it would not be carrying that disease. (Of course, the child could be born with other malformations, diseases and disorders that were not tested for.)
/ If the procedure became widespread, the incidence of many diseases would be reduced.
/ The procedure could significantly reduce the cost of medical systems in North America. Treatment of some genetic diseases can easily cost millions of dollars over the lifetime of a single individual.

An alternate use for PGD:

Some people are seriously ill or dying, but can be treated or cured with a transplant from a suitable donor. For example, people who suffer from leukemia, aplastic anemia and other potentially life-threatening blood diseases can often be cured with a bone marrow transplant (BMT) from a compatible donor. Too often, sick people die because a matching donor cannot be found.

PGG offers an alternative way of finding a compatible donor -- by creating one. The patient's mother can go through a standard IVF procedure, have many ova harvested, have the ova fertilized by the father's sperm, and have the resulted embryos go through a PGD procedure. If any embryos are found to contain DNA that is an appropriate match to the patient, they can be implanted in the mother's uterus. With luck, a pregnancy will develop and an infant will be born. That infant may then be able to supply needed stem cells from his/her umbilical cord or some other body component to their sibling and save their life.

To some parents, this option is literally a life saver. Instead of watching their child waste away and die, they can have the possibility of a cure. Also, another child will be added to their family. The first family to go through this process was the Nash family in Colorado. Their child "Molly was born with Fanconi anemia, a rare genetic disease that causes many problems, the most serious of which is inadequate bone marrow production....her poor bone marrow production meant that she would develop leukemia and die, possibly within a few years."The Nashes wanted a second child anyway. IVF and PGD procedures assured that their second child would be disease free and would be a compatible donor to their sister. A month after Adam was born Molly was treated with radiation and chemotherapy to completely destroy her bone marrow. She was then given a transfusion of Adam's umbilical cord blood. Her chances of survival increased from 42% with cord blood transplant from an unrelated marrow donor to 85% with a transplant from a matched sibling. There was no danger at all to Adam. 13

There are some negative aspects to the use of IVF and PGD to create a child to treat her or his sibling:

/ Some diseases develop too quickly to allow time for a pregnancy and perhaps maturity of the infant to the point where they can donate.
/ Some people raise ethical questions about the creation of what they call "designer babies" in order to treat a sibling.
/ Others object to the discarding of unused embryos. They generally feel that human personhood starts at the instant of fertilization. They view the killing of diseased embryos or embryos with poorly matched DNA is equivalent to murder.
/ Some fear that IVF and PGD is the first step down a slippery slope that will lead to babies being created to be used for spare parts.

Some recent developments:

/ 1999-NOV-15: UK: Public views sought: According to the Guardian UK News: "The human fertilisation and embryology authority, which regulates all such work in the UK, and the advisory committee on genetic testing (ACGT) yesterday published a consultation paper in print and on the internet. They claim this is the first such public consultation in the world. "
"They want to know whether the public finds it acceptable for genetic technology to be used to screen embryos to eliminate those that would be born with distressing inherited diseases, such as cystic fibrosis. If such screening is acceptable, the two bodies are asking, then how far should it go? What sort of severity of disease should the labs be allowed to screen for? If it becomes possible to detect a genetic mutation that will lead to a non-life threatening disability such as deafness, what should be done? " 6,7
/ 2005-APR-28: UK: Court of Appeal ruling upheld: The country's highest appeal court ruled that couples can create embryos through in-vitro fertilization in order to help cure sick siblings. "The Law Lords backed a 21003 Court of Appeal ruling that some couples undergoing the fertility treatment could have their embros screened to find tissue matches for seriously ill children, Advocates say the prodecure will help save desperately ill children. Opponents fear it could lead to the creation of babies for spare parts." 12

Some clinics that provide PGD:

We have found a few clinics that provide PGD and which have web sites on the Internet. None have asked to be included on this list; none have paid to be on the list:

/ California:The ReproductiveSpecialtyCenter in Newport Beach, CA. See:
/ Florida: The Department of Obstetrics and Gynecology, University of Florida, at:
/ Illinois:Reproductive Genetics Institute in Chicago, IL. See:
/ Oregon:OregonHealthSciencesUniversity fertility program at:
/ UK: According to the The Human Fertilisation and Embryology Authority, four centers in the UK are licensed to carry out PGD. 7

We are attempting to find a more complete list.

Books on fetal testing:

These books deal with amniocentesis. However, many of their observations may be equally applicable to PGD.

/ Rayna Rapp, "Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America," (2000). Read reviews or order this book safely from Amazon.com online book store
/ Barbara Katz Rothman, "Tentative Pregnancy: How Amniocentesis Changes the Experience of Motherhood," W.W. Norton, (1993) Read reviews or order this book
/ Laurie & Keith Wexler, "The ABC's of Prenatal Diagnosis," Genassist, Inc., (1994). Read reviews or order this book