UNIT ONE
Basic Genetics: A Starting Point

Usage of Genetic Information &
the Variation of Life

 

Introduction
Amniocentesis
Chorionic Villi Sampling (CVS)
In Vitro Fertilization
Pre-Implantation Genetic Diagnosis
Ethical Implications
Theological Concerns
Sources

 

Introduction

With all that we have previously learned throughout this unit in regards to genetics and its progress, we will now attempt to discuss certain possibilities for the usage of that information. With the help of genetic advancements, such prenatal procedures as Amniocentesis and Chorionic Villi Sampling (CVS) can not only give accurate insight to the future health and condition of a fetus, but can also provide a “gateway” to reasoning and justification for various natural pregnancy alternatives (i.e. In Vitro fertilization and Pre-Implantation Genetic Diagnosis).

Amniocentesis

A minor surgical diagnostic test allows the doctor to obtain a sample of the amniotic fluid. The amniotic fluid is then analyzed to look for genetic characteristics of the baby or to check on the maturity of the unborn baby’s lungs. Amniocentesis is a common way to obtain material for genetic and other testing of the baby. Typically performed at 15 to 18 weeks gestation.

Chorionic Villi Sampling (CVS)

CVS is a prenatal test that can detect genetic abnormalities such as Down syndrome. It is performed earlier than amniocentesis - between 10 and 12 weeks of pregnancy. CVS testing may be desired if there is an increased risk of chromosomal or genetic birth defects, and the test results are required as early in pregnancy as possible.

Both amniocentesis and CVS are procedures to test the chromosomes of the developing baby. Amniocentesis and CVS can both test for the structure and number of chromosomes. Women who are 35 years of age or older are offered amniocentesis or CVS specifically to test for chromosomal number, because the risk of problems with chromosomal number are increased in this age group. Amniocentesis and CVS are also performed in patients of any age when they are known to be at risk of having a child with a genetic disorder, such as cystic fibrosis, sickle cell disease, and plenty of others.

In Vitro Fertilization

IVF is a method of assisted reproduction in which the man'ssperm and the woman's egg (oocyte) are combined in a laboratory dish, where fertilization occurs. The resulting embryo is then transferred to the uterus to develop naturally. Usually, two to four embryos are transferred with each cycle.
(which precludes…)

Pre-Implantation Genetic Diagnosis

This is a procedure that is intended to weed out genetically defective embryos before they have a chance to develop. It 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 and found to be a carrier.

Ethical Implications

First and foremost we must ask ourselves if it is even morally right for us to conduct such prenatal test as amniocentesis and CVS, knowing full well that if a genetic disorder were in fact discovered, besides carrying the fetus to term the only other option would be to abort. An obvious hope for the future is that genetic advancements will someday allow us another option with some sort of gene therapy to correct the disorder rather than simply discarding the possible life all together (which brings up another concern as to which, if any, genetic disorders should we be allowed to manipulate). Until that day though, are we as a society and a peoples in any position to decide when a future life would not be worth living?

Who has the right to determine the quality of life of another being besides that being themselves? In the case of an infant or fetus as the case may be, who cannot express that determination themselves, are we (the parents more specifically) automatically provided with jurisdiction to do so?

One could argue that it is not a matter of us making a determination on the quality of life, but rather a desire to relieve suffering… whether that be of the fetus and its future life, or the parties closely affected by it. On the other hand, it might also be argued that varying degrees of suffering are what provide us with the character of our unique personalities. Mind you, this is another subjective point, in that no one can make a determination of the gravity of someone’s suffering without themselves experiencing it. Not to mention, a determination not possibly made before the infant is born. Unless there is a definite prenatal threat of death to the fetus or the mother are we really in any position to “sneak a peak” at what’s in store for the future?

In terms of In Vitro fertilization and Pre-Implantation Genetic Diagnosis, are we as a people in any place to “take life into our own hands?” The obvious ethical dilemma here is to whether or not creating life “unnaturally” outside of the womb is a task for the human race to take on. With the case of a couple not able to conceive a child on their own, but still desiring to make any and all attempts possible to do so, In Vitro seems to be a true option. It can be argued that if a couple are not physically able to conceive a child, maybe it simply is not meant to be. On the other hand, if they really want to be parents that badly, who is in any position to stand in their way?

Pre-Implantation Genetic Diagnosis takes any controversial subjects of debate of In Vitro fertilization to a whole other level. Concerns are not only brought to surface regarding the creation of life, but now the anxiety arises of our newfound ability to make certain choices towards specific characteristics of the fetus. Rather than simply attempting to make a point regarding this subject, let us examine a more case-based approach:

Case 1: A couple have a child with Huntington’s Disease, genetically programmed neuronal degeneration causing uncontrolled movements, loss of intellectual faculties, and emotional disturbance, eventually followed by death.

  • Parents elect for Pre-implantation Genetic Diagnosis to avoid having a second child with the same disease. Understandable?

Case 2: A couple have a 5 year old child with relapsing leukemia. Understanding that the child’s best chance for survival is an HLA-identical sibling for bone-marrow transplant.

  • The couple conceives another child naturally with hopes of it being an HLA-compatible child. Is it acceptable for the parents to have another child simply for the benefit of another?

Case 2b: A couple have a 5 year old child with relapsing leukemia. Understanding that the child’s best chance for survival is an HLA-identical sibling for bone-marrow transplant.

  • Although the couple is fertile, they request for Pre-implantation Genetic Diagnosis to ensure an HLA-compatible child. Still acceptable?

Case 3: A couple have a 5 year old child with relapsing leukemia. Understanding that the child’s best chance for survival is an HLA-identical sibling for bone-marrow transplant.

  • Although the couple is fertile, they request for Pre-implantation Genetic Diagnosis to ensure an HLA-compatible child.
  • The couple is informed that four embryos meet the criteria, 2 male and 2 female. Can they choose a sex?

Case 4: Parents have a child with Hunter’s Disease, a lysosomal storage disorder characterized by the accumulation of acid mucopolysaccharides (heparin and dermatan sulfates) in the central nervous system and peripheral tissues. Hunter’s Disease is a sex-linked disorder, and in its severe form can lead to mental retardation, hyperactivity with disruptive/destructive behavior, as well as seizures.

  • Parents are offered Pre-implantation Genetic Diagnosis to avoid unhealthy sons, but are unsure, and request the implantation of only female embryos to ensure the child does not have Hunter’s. Is this justifiable?
  • Parents are offered Pre-implantation Genetic Diagnosis to avoid unhealthy sons, but are unsure, and request the implantation of only female embryos to ensure the child does not have Hunter’s. In addition, they request that the female embryos are further tested, and that only those who are not carriers of Hunter’s themselves be implanted. Still justifiable?

Case 5: Parents have 4 healthy girls.

  • They request Pre-implantation Genetic Diagnosis to ensure the next child is a boy ?

Case 6: A deaf couple request Pre-implantation Genetic Diagnosis to ensure that their child is born without the same deafness (hereditary 80% of the time). Legitimate?

Case 7: A deaf couple request Pre-implantation Genetic Diagnosis to ensure that their child is born with the same deafness (hereditary 80% of the time). Still Legitimate?

As can be derived from the cases listed above, an incredibly large concern of the usage of genetic information as a basis of changes or options for life, is the fear of tumbling down a slippery slope. It is understandable for the therapeutic possibilities of the combined efforts of In Vitro fertilization and Pre-Implantation Genetic Diagnosis to be extremely attractive to the human race. It is safe to say that as a people, we maintain an inherent desire to relieve suffering, especially for those we love and hold dear to us. The resulting possibility of taking our options too far, from the desire to relieve pain and suffering (by selecting against disorders, ensuring HLA-compatibility for siblings, or carrier status screening), to sex selection, to selection for certain characteristics and disorders, it is a very real, and morally very scary caution we must be aware of. This is not to say that we should always remain content where we stand with our knowledge of ourselves and our being, but that we must take warning as we journey into new and unexpected territory.

Theological Concerns
It can be said that although very similar at times, theological and ethical concerns aren’t always necessarily the same. Taking a step back from the genetic and scientific advances seen over the years and approaching them from a more theological standpoint, the level of reserve does not decrease in the least bit. In addition to those previously discussed, certain problems arise while taking a more theological view.

First and foremost, the human race has been created in the image of God, according to His specification. This being the case, all life is nothing less than precious, and should be appreciated in any shape or form in which it comes. As the saying goes, “God works in mysterious ways,” and to think that certain “disorders” or difficulties we see as possibilities to be weeded out are not His work as well would be somewhat preposterous. In addition to suffering being a character building-incentive, it is hard to believe that it is not always for the benefit of some other aspect of life, if even for the opportunity of a single soul to experience some value of life.

When we begin to select for certain characteristics of life, or against them as the case may be, it is not known at this point as to what sort of repercussions may occur as a result. Just like picking raisins out of cereal, it is inevitable that every once in awhile flakes and milk will be taken out as well. As certain genetic components are weeded out we have no way of telling what is being taken out with them. Furthermore, if we are each unique puzzles which God has put together Himself, then who knows what pieces He has meant for us to have that might be lost. Not to mention, in terms of couples not being able to conceive children, it is quite possible that God has meant for them to do something else. Whether it be to adopt children, or spread their love in other ways, God does work in mysterious ways, and does have His own special intentions.

Finally, thinking about the story of Adam and Eve, among other things, one of their greatest sins was their attempt and desire to be God-like. With this in mind, it can be a great source of anxiety and worry that we are making the same mistake they did with our actions. If they were punished for attempting to be God-like by desiring to know all and see all, than are we not even more guilty of the same by meddling with one of the most aspects of our lives?... that is, the wonderfully unexpected chance of not knowing until birth.

Sources


http://www.advancedfertility.com/ivf.htm

http://www.religioustolerance.org/abo_pgd.htm

http://www.obgyn.upenn.edu/Genetics/Amnio.html

http://familydoctor.org/handouts/144.html

Personal communication with Dr. Lainie Ross

Ethical and Policy Issues Raised by Clinical Genetics and Genetic Research, presentation by Dr. Ross

 

 

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