Reproductive medicine aims to explain the creation of life and its development during pregnancy. This is a broad field that has led to the development of specific therapies to tackle specific concerns during pregnancy. Moreover, the elevated pregnancy rates as a result of the baby-boomer generation and instances of congenital disabilities have led to increased research in reproductive medicine. Brezina and Kearns (2014) suggest that genetics is increasingly being utilized in reproductive medicine for both diagnosis and treatment. Genetics is a division of science that studies transmission and variation of inherited traits by the DNA. The genetic material is responsible for determining the makeup of an individual. Studying how genes interact during life development is a vital step towards understanding the complex nature of how life is created from a single cell.
Several genetic testings have been developed which include chorionic villus sampling, amniocentesis, and preimplantation genetic testing. The article will discuss the development of prenatal genetic screening and the social, legal and ethical implications of adopting the procedure. Prenatal genetic screening is a medical practice that involves separating a mature oocyte and analyzing it for its genetic composition (Brezina, 2013). The results enable selection of cells that are viable for uterine transfer. This technology is complemented by preimplantation genetic diagnosis which is aimed at evaluating embryos for specific genetic abnormalities in parents who have both documented carrier status for significant genetic variations such as sickle cell anemia.
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Various technologies have been adopted to facilitate the development of PGS. Geraedts and Sermon (2016) identify a few of these technologies that are commonly employed. The techniques include in vitro preimplantation embryo development after IVF and ICSI and biopsy methods and timing. Each of the mentioned technologies is used for different tests and at various stages. The first strategy is used even before fertilization has occurred and is responsible for selecting oocytes that are free from genetic variations; hence can be fertilized without the embryo developing genetic anomalies. The second strategy is only applicable after fertilization has occurred and can be used to test the success of the first technology (Klug et al., 2016).
The benefits of applying molecular typing techniques are immense. For instance, PGS has been implemented together with next-generation sequencing technology to comprehensively screen for aneuploidy. Fiorentino et al. (2014) conducted a study which combined gene sequencing and PGS for the identification of aneuploidy. They discovered that 100% of the samples tested indicated specificity and sensitivity for an aneuploid embryo, thus can be a vital breakthrough to prevent aneuploidy. Fiorentino’s study was mirrored by Dahdouh, Balayia, and Velasco (2015) who conducted a similar survey of the impact of biopsy, a PGS technology, on comprehensive chromosomal screening.
Moreover, PGS has been used by geneticists to successfully prevent the development of a genetic disorder of a fetus where both parents report to be carriers for a particular genetic disease such as sickle cell anemia. Brezina (2013) argues that PGS can be a useful tool in fighting diabetes type 2 and hypertension. He suggests that these conditions are a result of genetic mutations that predispose an individual to develop the conditions. In such a case, it will not be long before PGS is utilized to identify genetic factors that cause diabetes and hypertension and therefore isolate them leading to a significant step in the global fight against non-communicable diseases.
As with many emerging medical technological advancements, PGS has raised ethical and legal concerns and has also impacted the society in general. For starters, the success rate of PGS depends a lot on in vitro fertilization coupled with PGD. This leads to the procedure being quite invasive and has led to some religious groups fighting against it. Furthermore, some people feel that the process goes against the human ability to be autonomous in giving birth since it can dictate the some of the critical components of life such as genes, which are the fundamental components for every living being.
This autonomy is deprived when PGS has been paired with PGD to further go-ahead to determine the sex of the child. Due to these advancements, some parents together with geneticists have utilized PGS for personal gains such as defining the appearance traits of the baby. This idea solicits grave ethical concerns. The technology is relatively new, and the scope has yet to be established. During this purgatory, a few people have conducted unauthorized studies on human life in an aim to identify how well the technology works. Like any other experiment, there is bound to be accidents and miscalculated errors. These errors have led to the loss of life. It is however debatable whether life is lost. Some people consider the reproductive cells as life, while others define life after fertilization has occurred.
PGS can be employed in both of these cases; to the reproductive cell or the fertilized oocyte inform of biopsy. When errors occur at these stages, the cell dies, and ultimately, a life is lost. Gronowski, Scott, Caplan, and Nelson (2014) suggest that cells which are identified as carrying the genetic anomaly are discarded. This leads to a sophisticated form of murder. However, countries have not yet defined the regulations for this technology. Some European countries have formulated some regulations despite the issue being new and uncharted. For instance, Italy passed a law that allowed only three embryos to be created during the procedure and that all viable embryos be transferred into the patient’s uterus to prevent the storage or destruction of the cells.
The United Kingdom also has policies in place that guide genetic practices. Human Fertilization and Embryology Authority is the statutory body in the UK that regulates reproductive technology in reproductive medicine. The situation is very different in the USA. USA lacks a defined body that governs the PGS practice. The practice is instead controlled by the Clinical Laboratory Improvement Amendments (CLIA) and the Food and Drug Administration (FDA) (Bayefsky, 2016). This leads to the practice in America being subject to professional guidance which can at times be insufficient, especially in such a case that is emerging with very little that is known about it.
Moreover, the harmonization of these services across the globe is inhibited by the diversity of healthcare services and cultural differences. Damian, Bonetti, and Horovitz (2015) state that the cultural background of the people dramatically influences healthcare systems. Society, in this case, plays a significant part in the PGS process. As stated earlier, some cultures will gladly accept the technology, while others will reject it tooth and nail. This further leads to segregation which can be a source of civil wars. The supporters and non-supporters will engage in a feud, and due to the political nature of the issue, politics will fuel the fight leading to a significant outburst of a full-blown civil war.
Also, questions are being aired as to whether parents should disclose to their children that they were conceived using PGS technology. This is a sensitive matter since it has the potential to shake the love between a child and a parent. All in all, all molecular typing techniques are sensitive strategies that need to be comprehensively looked into so that their benefits can be well accrued.
References
Bayefsky, M. J. (2016). Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism. Reproductive Biomedicine & Society Online , 3 , 41-47.
Brezina, P. R., & Kearns, W. G. (2014). The evolving role of genetics in reproductive medicine. Obstetrics and Gynecology Clinics , 41 (1), 41-55.
Brezina, P. R. (2013). Preimplantation genetic testing in the 21st century: uncharted territory. Clinical Medicine Insights: Reproductive Health , 7 , CMRH-S10914.
Dahdouh, E. M., Balayla, J., & García-Velasco, J. A. (2015). Impact of blastocyst biopsy and comprehensive chromosome screening technology on preimplantation genetic screening: a systematic review of randomized controlled trials. Reproductive Biomedicine Online , 30 (3), 281-289.
Damian, B. B., Bonetti, T. C. D. S., & Horovitz, D. D. G. (2015). Practices and ethical concerns regarding preimplantation diagnosis. Who regulates preimplantation genetic diagnosis in Brazil?. Brazilian Journal of Medical and Biological Research , 48 (1), 25-33.
Fiorentino, F., Bono, S., Biricik, A., Nuccitelli, A., Cotroneo, E., Cottone, G., ... & Greco, E. (2014). Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. Human Reproduction , 29 (12), 2802-2813.
Geraedts, J., & Sermon, K. (2016). Preimplantation genetic screening 2.0: the theory. MHR: Basic Science of Reproductive Medicine , 22 (8), 839-844.
Gronowski, A. M., Scott, R. T., Caplan, A. L., & Nelson, L. J. (2014). The ethical implications of preimplantation genetic diagnosis. Clinical Chemistry , 60 (1), 25-28.
Klug, W., Cummings, M., Spencer, C., Palladino, M. & Killian, D. (2016). Essentials of Genetics . Boston: Pearson.