University Research Paper Analysis: Preimplantation Genetic Testing

This research paper analysis examines an article focusing on preimplantation genetic testing, exploring the transition from genetic to genomic diagnosis. The study investigates the application of next-generation DNA sequencing and microarrays in enhancing the accuracy and efficiency of preimplantation genetic diagnosis. The paper addresses two primary hypotheses: whether next-generation DNA sequencing can be effectively used in preimplantation testing, and whether preimplantation diagnosis using DNA microarrays can improve in vitro fertilization outcomes. The analysis highlights the cost-effectiveness and technical aspects of these methods, considering the importance of reducing the time required for computational analysis. The study also discusses the implications of the research, emphasizing the significance of preimplantation genetic diagnosis in reducing the transmission of severe inherited genetic disorders and its potential for wider accessibility.

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Research Paper
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Preimplantation testing: Transition from genetic to genomic diagnosis
According to Lau (2012) preimplantation genetic testing is defined as the scientific
procedure to examine the status of embryonic genetics created by in vitro fertilization before
initiating a pregnancy. Conventional genetic methods used for diagnosis of preimplantation of
genetics evaluate unique parts of a person’s genome, are time intensive, inefficient and need the
progress of a custom for each family’s patient. Preimplantation genetic diagnosis being viewed
by the medical scientists as alternative to diagnosis of prenatal, was started in the early 1990s to
ensure that people who were vulnerable to transmitting inherited genetic disorders to their
children could be helped medically. Preimplantation genetic diagnosis is used to determine the
genotype of the embryo enabling the couples to choose the embryo which is not affected by the
genetic disorders before the initiation of pregnancy. On the other hand prenatal diagnosis
normally results in selective termination of the affected pregnancy. In preimplantation genetic
diagnosis, the commonly applied stage for examination has normally been the eight-cell
cleavage-stage embryo in which more than one or one blastomere is removed for examination.
First hypotheses being tested
In this journal, research question which can be translated as one of the research
hypothesis has been postulated whether the next generation of DNA sequencing can be used in
preimplantation testing. According to the Lau (2012), preimplantation genetic diagnosis is
usually cost intensive as well as technically intensive. Even though the cost of reagent for exome
or entire-genome sequencing is gradually increasing to reduce and the sequencing speed is
hugely accelerated, the time of computation has to be reduced to complete analysis of sequence
within two-d timeframe of testing of preimplantation.

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Is the hypothesis tested?
According to the evidence from this research study, it is clear that the researcher has
positively tested the hypothesis or the research question.Through desktop research, Lau (2012)
concluded that the next generation of DNA sequencing can be applied in preimplantation testing
of genetics. To come up with complete sequence of genomes from a single body cell of a human
being, the method of analytical sensitivity has to be enhanced and improved. Moreover,
preimplantation genetic diagnosis by chosen sequencing of the gene of a disease usually need
reduced amount of amplified template of a DNA.
Second hypothesis being tested
Another hypothesis being tested by the researcher in this journal is whether
preimplantation diagnosis by microarrays of DNA can enhance in vitro fertilization results.
According to Lau (2012), since previous or conventional techniques which interrogated eight to
twelve chromosomes by fluorescent in situ hybridization did not efficiently work to show
benefits of enhancing in vitro fertilization results, there has been significant controversies
concerning the need for as well as the ability of preimplantation genetic diagnosis to enhance
rates of implantation of in vitro fertilization.
Is the hypothesis tested?
According to the results of this research based on desktop research, secondary
information materials and inputs from various stakeholders, the hypothesis of the research was
positive. Microarrays that are able to interrogate each human chromosome as well as identify
minute duplicate of chromosomes can effectively enhance in vitro fertilization. Several empirical
studies in which Lau used in testing the research hypothesis indicate that early human embryos

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have huge aneuploidy incidences as well as blastomeres mosaicism. Mosaic and aneuploid
embryos usually undergo in situ correction during the development toward the stage of
blastocyst which eventually leads to normal results. Thus, there has been concern regarding the
accuracy and value of testing of preimplantation aneuploidy at the stage of cleavage since false
positive and false negative examination results may be expected from the human blastomere.
Even though microarrays are usually more register consistent results than fluorescent in situ
hybridization method for detecting aneuploidy, both microarrays and fluorescent in situ
hybridization can be restricted in predicting in vitro fertilization results relative to the high
incidence of mosaicism as well as aneuploidy of blastomeres. Effectively prepared randomized
controlled experimental trials are normally required to examine if preimplantation based on
microarrasy can enhance in vitro fertilization results by raising rates of implantation as well as
reducing rates of miscarriages.
Although it is normally possible to avoid aneuploidy embryo transfer which will
ultimately fail to develop when preimplantation genetic diagnosis is used, other inherited
individual factors also influence the growth development of a human embryo. For example the
events of development taking place at 2 to 4-cell stage are usually believed to influence whether
an embryo is able to grow to the blastocyst stage.
In the journal, the research study was presented a secondary research study, therefore
most of the research activities were not funded or required little financial support. However, one
of the people who immensely contributed to the overall success of the research was David Bick
and Carl Ball who gave their comments and inputs to the researcher. The comments given to Lau
by the mentioned people did not negatively affect the overall result of the research. Therefore,
there was no conflict of interest from the mentioned parties.

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Implication of the research study
One of the implications of the research is the acknowledgement that severe disorders of
genes are mostly incurably and debilitating requiring extensive amount of resources and time.
Therefore, next generation of sequencing is important for preimplantation testing. Preimplantion
diagnosis was introduced in the early 1990s to reduce or minimize the transfer or transmission of
dangerous genetic disorders yet it has not been widely applied due to the extensive costs of in
vitro fertilization and preimplantation genetic diagnosis procedures. It is, therefore, important to
consider the economical and medical of the preimplantation testing in view that the medical and
economic considerations favor or is leaning towards an affordable and universal access to
preimplantation genetic diagnosis and in vitro fertilization services for carrier couples of very
serious inherited disorders of genes. The study is very important as it shows the significant of
preimplantation genetic diagnosis in reducing severe inherited genetic disorders which are
normally passed to unborn babies and young children.

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Reference
Lau, C. E. (2012). Preimplantation testing: Transition from genetic to genomic diagnosis. World
J Med Genet 2012 April 27; 2(2): 9-14. doi:10.5496/wjmg.v2.i2.9.
https://www.researchgate.net/publication/230846312_World_Journal_of_Medical_Geneti
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