Genetic Diagnosis

Published: 2019-05-30 22:09:36
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Genetic diagnosis is described as the process of analyzing human RNA, DNA, proteins, chromosomes and some metabolites in an attempt to detect heritable disease-related mutations, genotypes, karyotypes and phenotypes for clinical purposes (Scriven & Alan 36). It includes determination of an individuals genetic status that shows symptoms or having a high risk of getting a genetic disorder based on the family history of disease that is heritable. This essay focuses on preimplantation genetic testing medical technique used in identification of genetic defects in mothers embryos that are formed through in vitro fertilization (IVF) just before pregnancy. It also explores on the ethical differences that pertain Preimplantation Genetic Diagnosis and Prenatal diagnosis (Scriven & Alan, 36).

Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Testing (PGD) is clinical diagnostic process that over time evolved from the significant advances in the area of assisted reproductive technology. Preimplantation Genetic Diagnosis was developed initially in order to offer an alternative solution for prenatal diagnosis so as to diminish the transmission of serious genetic disease for a couple with a reproductive risk. In PGD, a specific genetic abnormality is diagnosed by testing a cellular material found in early human embryos or oocytes (Scriven & Alan 39). After diagnosis is complete only the embryos that have not been affected are transferred to the uterus.

In PGD, genetic testing is combined with in-vitro fertilization. The main techniques used in this process include polar body biopsy and blastomere. The usage of the blastomere biopsy technique is inclusive of two blastomeres that are taken out by the use of an inferred laser. Then a DNA tested for the chromosomal and genetic condition; normally by polymerase chain reaction (PCR) (Scriven & Alan 39).The embryos that are not genetically interfered with are inserted inside the uterus of the pregnant mother with the primary objective of maintaining a normal pregnancy. There are advantages and disadvantages associated with the number of blastomeres used in biopsy. When one blastomere is used, there is an advantage of being less invasive but it can potentially lead to negative effects due to the possibility of mosaicism.Although a two blastomere is more accurate, it can be more invasive and tis raises concerns on the future development of an embryo (Scriven & Alan 41)

The difference in ethical factors between Preimplantation Genetic Diagnosis and Prenatal Diagnosis

Prenatal diagnosis has always been confused with preimplantation Genetic diagnosis. It should be understood that prenatal diagnosis is a process which includes conducting a test on the fetus in the early period of pregnancy (Ellen 563). The techniques used for testing include the use of ultrasound or serum screening. These testing techniques are carried out during the first 10 and 20 weeks of the gestation period. Most of these testing techniques poses difficulties and can heighten the risk of disrupting the embryo physically at the same time increasing the infection risk (Ellen 563). If there is any effect on the fetus, then a medical practitioner has to decide on whether the pregnancy is left to continue or the fetus is aborted. Some countries like UK allow for a pregnancy termination when there are signs shown by PND that the fetus has been affected by a serious medical condition (Ellen 564).

There are a number of ethical arguments that emerge from the different opinions raised by people with regard on when human life starts. Some scholars argue that life begins as soon as fertilization takes place and others at implantation of the embryo onto the uterus. There are individuals that argue that life begins during the time when the central nervous system is created. If we have the belief that life begins when fertilization takes place, it means PND and abortion implicates killing of a fetus (Ellen 567). The embryos that have been affected in PGD are isolated, thus, left to die which is another form of killing, therefore, we can question whether this is a case of ethical differences. It is evident that both PGD and PND choose embryos that are free from disability or illness and many human activists across the world argue that this form of selection shows a discrimination against the disabled persons and those with a genetic disorder. When such selection is allowed, is it true that a life that has disability or genetic condition has no worthiness to live?

In some countries such as UK, reproductive technologies such as PGD are regulated by Human Fertilization and Embryology Authority (Ellen 563). The process of PGD still remains a controversial issue despite the fact that it has been available for over twenty years now. Embryo selection has continued to increase the debate on legal and ethical issues.

From the discussion, you can see that the use of the procedure of PGD brings about a number of legal and ethical issues. Though it may appear that this process will only poss less harm to the developing fetus, in future there might arise complications. Despite the fact that there are many benefits that associated with the PGD, in my opinion the governments and the CDC should stem up measures to prevent individuals from using PGD to satisfy their selfish interests.

Works Cited

Ellen Wright. "Ethical, legal, and social implications of genomic medicine." New England Journal of Medicine 349.6 (2003): 562-569.

Scriven, P. N. and Alan H. Handyside "Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis." Prenatal diagnosis 18.13 (1998): 37-75.

Shinar, Y., et al. "Guidelines for the genetic diagnosis of hereditary recurrent fevers." Annals of the rheumatic diseases 71.10 (2012): 1599-1605.


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