Carrie Georgion

Is Pre-Implantation Genetic Diagnosis useful technology? Is it a form of selecting traits? [and] Where will this technology ultimately lead?

"Please make sure that our little one has blond hair and blue eyes, "

and "I want him to be a good athlete and very intellectual."

"Oh, and doc, make him disease free please."

"Is that all?"

"You two aren’t very particular are you?

" This will be an easy case."

"We will continue with the implantation in two days."

With the enormous advancement of Technology in many areas of Genetic Diagnosis, parents and doctors seem to defy Mother Nature and maybe even God every day. An example of this phenomenon is Pre-Implantation Genetic Diagnosis. Do the advantages this technology brings outweigh the disadvantages? Who should be final authority? Will the advancement of Pre-Implantation technology start a new wave of genetic manipulation in in-vitro fertilization?

Pre-Implantation Genetic Diagnosis (PID, PGD) involves the removal and testing of a single cell from the embryo (zona or blastocyst…a collection of 7-10 cells)³, after in-vitro fertilization (IVF), for the possibility of genetic disorder transmission from parent to child. This procedure is called micromanipulation. If the genetic material may cause a genetic disorder it is discarded and the others returned. In essence, the procedure is " intended to weed out genetically defective embryos before they have a chance to develop".³ More specifically, the woman is induced through medication to ovulate in high quantity and the eggs are collected. Next, standard IVF takes place. Three days later, each embryo contains about eight cells and is ready to be biopsied. A micromanipulator holds the zona in place along with a holding pipette. Then another pipette drills through the shell using a specific acid. A single cell is removed from the embryo and tested for pre-determined genetic disorders. The procedure is repeated for each blastomere and the "disorder-free" cells are returned to the blastocyst for further incubation and later implanted into the mother.³ Micromanipulation mimics the purpose of other genetic diagnosis approaches like amniocentesis or chorionic villus sampling.^5,4 In these procedures a sample of the amniotic fluid and/or the placenta are taken during pregnancy for genetic diagnosis. If signs of genetic abnormality exist, pregnancy might be and usually is terminated. What types of genetic abnormalities can PID screen for? First of all, only high-risk cases are tested, meaning either one (25 percent risk) or both parents (50 percent risk) is/are known carriers or persons with the disease. Furthermore, conditions must be pre-confirmed and studied before the procedure can be done because there is such a little amount of sample (cells) test. Therefore, there is a limitation on the capability of the procedure to effectively weed out genetic irregularity.³ The following genetic disorders may now be prevented using the PID method:

Alzheimer disease (AAP)

Cystic Fibrosis

Fanconi Anemia

Hemophilia

Muscular Dystrophy

Neurofibromatosis Type I

p 53 Cancers

Sickle Cell disease

Spinal Muscular trophy

Tay Sach's Disease

Exactly how successful is the PID technique? The first PID baby was born in London in 1989.⁵ However, in the United States the PID technique is virtually infantile. Only about a dozen clinics have capabilities, knowledge, and authority to administer the procedure. In fact, only thirty babies worldwide have been born following the technique.³ More and more parents considering and having IVF are trying the procedure worldwide. After implantation, the pregnancy will start with a similar success rate of usual embryo transfer (IVF). However, the live IVF birth rate is only about seventeen percent. ⁵

Although the low success rate, many parents and doctors feel the advent of this modern technology is highly advantageous and should be carried out in many situations. It allows couples that are aware that they are carriers of a genetically transmitted disease to have a child with full assurance that it would not also be carrying that disease. In most cases, these parents would opt to not have children. If the procedure becomes more widespread, many disease incidences could be dramatically reduced. Furthermore, in the future the procedure could significantly reduce the cost of medical systems in North America and worldwide.³

Despite the advantages this new technology offers, there are many disadvantages for parents and mankind. The technique can be physically demanding for the parents. In addition, the procedure can cost thousands of dollars more than the IVF procedure alone with a low (17%) success rate of embryo survival. Although a possible carrier, not all genetically defective fertilized eggs generate the disorder or the disease in the individual. Perhaps less well known to the general public, some diseases do not even develop the symptoms until later in adult life, when a cure might be found.³

Ethical issues with the PID technique must also be considered and weighed in the decision to advance, administer, and regulate the technique. For example,

"a couple is at risk of having a second child with Severe Combined Immune Deficiency (SCID)…children born with this condition…die early in life…the couple tell the medical doctor that they are seeking his help in identifying and transferring only embryos free of the SCID mutation so they know their pregnancy will be healthy…the geneticist wonders whether helping this could in this way is an ethically appropriate use of this new genetic technology…[he thinks]…is it right 'to purpose' a child in this way?" The doctor in this example is faced with the controversy of crossing ethical barriers in the name of scientific, genetic technology. Is it ultimately his decision and his guilt to bear, or is he just doing his job in following the parents' ethical or un-ethical decision? He struggles on whether the parents' request "represents an unwise stem into a world of positive or 'enhancement genetics,' where parents' desires, not medical judgment, dictate the use of genetic knowledge."⁴ This quote truly defines the controversy surrounding PID testing and genetic testing or altering in general. It seems that the ability to alter genetic codes is a totally positive, rewarding technology. However, is the use of such technology ethically bound? Ethically, I think that altering the genetic code crosses a barrier that isn't our right to cross. From a Christian standpoint, I face conflicting views. First, God controls nature and nature controls our genetic codes. If we are genetically designed to develop a disease, then God wishes it so. However, doesn't God also provide us with the technology to alter the genetic code he created? Though these are quite contradicting, I feel that mankind should focus on the bigger picture of the effects that coincide with the use of this technology. For instance, it seems ethically "o.k." to take away the gene that causes Alzheimer's disease. However, does the removal of this gene effect the body's defenses against other conditions. On a higher scale, do alterations to the genetic code allow and create a longer living, higher populated world? More and more parents will be having children who otherwise wouldn't have considered parenting. Therefore, the numbers of children will increase as a whole in the United States. Children who would and could have been adopted by parents otherwise not considering childbirth (without the use of PID) may not be adopted, thus increasing or maintaining the numbers of children without parents in the world. It seems by advocating the new technology to increase the number of parents; the number of children without them would also increase or not decline. Although, we must consider that there have only been about thirty babies successfully born using the PID technique to date in eleven years. Therefore, a huge increase in the population of the world due to this form of technology is not highly probable until further advancements of the technology are developed. Corresponding with this information one must also consider perhaps a more posing ethical issue, that being the high numbers of disposed blastocysts after discovery of possible genetic disorders. This section of the technique seems to pose the long debated ethical issue of pro-life verses abortion dispute. Should disposal of the eight-celled blastocysts be considered abortion? Is it an unethical treatment? Who caries the blame, geneticists, the parents, or both? After all, abortion isn't even legal in some areas of the United States, let alone the other underline, unknown social and medical controversies surrounding abortion in Europe and across the world. Bigger yet, the use of this technology may stir the curiosity of parents and geneticists alike to try and alter the genetic code for more than just disease bearing genes such as those responsible for phenotypes? Although this type of genetic testing isn’t an accredited, well-known, or used method today, we must consider technology of today's society. Growth at an unfathomable rate in every direction and in every field is the pattern of the road that technology has previously taken and still does today. Isn't genetic mapping a proposed and possible addition to the PID technology? After all, disease control is in itself a form of artificial genetic regulation, who will stop it's advancements? Who and when would/will this cycle end? Who will regulate the situation now that PID is being administered worldwide?

Regulation of the PID procedure seems non-existed in the United States and overwhelming in the UK. For example, in Germany there is a local ethics committee that regulates PID and IVF procedures and the doctors/patients as well. There literally is a law for every step of the procedure, which concerns the doctors as well as the patients. Entire labs are regulated in that only certain facilities with the highest degree of Microbiology and Genetic Diagnosis have the authority to administer the procedure.⁶ This is the only type of regulation offered in the United States. Only between six and ten labs have the legal authority to practice the procedure. Also, the procedure is mainly only given to couples who already have one child with a disorder. This is partly in fact because of the infantile age of the procedure itself and the limited knowledge of it. It seems as though there isn't really any true regulation of the procedure. Though only a few clinics offer the procedure, it is mainly because it is so new, not because there is a worry about the ethical situation involved becoming out of hand. Shouldn't the government provide legislation regulating the procedure's limitations on gene alteration and 'purpose' genetic work?

What is next for Pre-implantation genetic diagnosis? New advances in the field are being tested currently in labs across the country. For instance, now, only one disease can be tested for at once. However, there are modifications being made that can test for more than one condition simultaneously. Also, until further knowledge is gained about the entirety of the procedure, only a few centers worldwide will be permitted to practice PID. Genetic counseling is also an alternative method being pushed by many pro-life activists in the field. It offers parents with the knowledge to make intelligent, informed decisions regarding the possible post-pregnancy tests. In addition, there are other methods of becoming a parent other than PID and IVF. For instance, foster care is highly needed today along with adoptive parents. Though parents are directly giving birth to a child, adoption can be equally rewarding if not more rewarding considering the fact that the children involved didn't think that they would have parents either. Lastly, research about identifying more diseases and conditions is being done currently in many prestigious microbial labs across the country and in the UK.

Hopefully, the use of the new technology of Pre Implantation Genetic Testing is thoroughly thought through before just being permissible to the open market on a worldwide level. The more access offered seems to be a direct means of increasing the likelihood of further developments of other forms of genetic alteration. It seems like the human race is so eager to offer new technologies before their effects and consequences can be carefully evaluated by doctors, parents, and government legislation. Committees, organizations, judicial boards, etc. need to be assigned or need to designate some means of regulation. This is mainly because there is most definitely a need for some sort of limitation and boundary between ethics and scientific advancement set by each party involved. However, perhaps there is more of a need for parent evaluation about why they wish to be parents and what parenting includes. For instance, there are so many children waiting for wanting parents who are already born. In addition, perhaps there is a need for society in general to question the reason why we feel a need to genetically alter what God has made and intended as well. These questions seem to pose more significant questions that need answers more so than the need for IVF and PID procedures and their advancements.

References

1.  http://www.medicalcenter.gwu.edu

2. http://www.aaas.org/spp/dspp/sfrl/progects/stem/reprot.pdf

3.  http://www.religious tolerance.orglabo_pgd.htm

4. http://www.nhgri.nih.gov/About_NHGRI/Dir/Ethics/pre.html

National Human Genome Research Inst. General Ethics Consortium Case Literature

5.  http://www.hygeia.org/poems5.htm

Yale Iniversity School of Medicine Department of Obstetrics and Gynechology M.D. PhD.

6.  http://www.biol:tsukuba.ac.jp/~macer/EJ71D.html

Germany use of Pre-Implantation Genectic Diagnosis : Research Centre Biotechnology and Law University of Lueneburg, German