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Human Genome and Application of Genetic Variations

Human genome refers to the information contained in human genes. The information is stored in DNA sequences within cell nuclei and mitochondria (Michal & Schomburg 2013; Veltman & Brunner 2012). Human diploid genomes are found in body cells that are not involved in sexual reproduction while human haploid genomes are contained in sex cells that are essential in human reproduction. It has been found that human beings differ genetically by about 0.1% due to the information coded in the DNA. However, there is a higher level of variation between man and other primates such as chimpanzees. The Human Genome Project (HGP) focused on understanding genomic information stored in the human DNA.

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The project produced sets of sequences of genetic information. It was successful due the application of DNA sequencing, a molecular biology technique that helps to visualise the order of nucleotides within a gene sequence (Michal & Schomburg 2013). The human genome is characterised by a perfect molecular architecture that ensures that genetic information is processed and utilised by cells. It is composed of 23 pairs of chromosomes, which are unique in males and males.Twenty two pairs of chromosomes are found in body cells while one pair is found in sex cells. MiRNA and Micro-RNA are essential in processing products of gene transcription. Thus they are critical in gene expression. Ribosomal RNA molecules are contained in ribosomes, and they participate in protein synthesis. Small nuclear RNA processes pre-mRNA and regulates the activities of transcription factors. Small nucleolar RNA guides the molecular pathways that modify chemicals within cells (Michal & Schmoburg 2013).

The coding and noncoding DNA sequences are integral components of the human genome. Coding DNA sequences can be processed to form mRNA that is later turned into human proteins. On the other hand, noncoding DNA sequences are not utilised to form proteins in human cells, but they make up about 98% of the human genome. Recent literature shows that some DNA sequences that do not have instructions for producing proteins have been shown to house genes that are involved in regulating RNA molecules, for example, rRNA and tRNA (Veltman & Brunner 2012).

The protein-coding component of the genome has been widely studied due to its roles in producing proteins for various biological functions within human cells. Interestingly, DNA mechanism can lead to the production of more proteins than the amount of genes that code for protein macromolecules (Michal & Schomburg 2013).

The molecular apparutus for coding proteins is contained within the exome of human beings. The sequences within this component are encoded by exons, which are used to produce proteins. The exome is marked by a network of molecular pathways that control activities of other other cellular components. In fact, the exome was the first feature of the human genome to be characterised by the HGP. Pseudogenes resemble protein-coding genes. They are produced through gene duplication. Initially, pseudogenes retain their protein coding functions, but they lose this function when mutations accumulate in DNA sequences (Michal & Schomburg 2013). Therefore, a gene that has many pseudogenes could be rendered inactive gene, which cannot code for any funcational protein. When a gene is transcribed, it yields messenger RNA molecules that are marked by long sections of introns, and short sections of exons. Introns do not contain the molecular codes for directing the sysnthesis of proteins, unlike the exons. However, during procesing of the transcript, the introns are cleaved off to retain the functionally important exons that are changed to amino acids (Michal & Schomburg 2013).

A single-nucleotide polymorphism (SNP) is a change in the sequences of one of the four nucleotide bases that make a DNA molecule i.e. A,T,C and G (Michal & Schomburg 2013). In other words, an SNP is a variation of one of the purines or pyrimidines. DNA mutations can be utilised to screen for diseases of many aetiologies. In fact, many diseases have been shown to have molecular foundations, which are then manifested to affect physiological features of the body (phenotype). Variations in the DNA sequences can have neutral, positive or negative impacts on an individual (Veltman & Brunner 2012; Michal & Schomburg 2013). Genetic screening has important applications in the health care industry because it helps to identify the genes that have mutated. Understanding the genes with variations could go a long way in promoting the design of pharmacological molecules for therapeutic purposes (Veltman & Brunner 2012).

Disease progression takes a long time before a disease is manifested. However, the application of genetic screening can significantly increase the chances of diagnosing diseases at early stages.For example,cancer arises due to variations in specific genes.An early diagnosis of cancer,among other health conditions,improves the chances of treating the conditions

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Inheritance of mutated genes from parents by a foetus predisposes it to genetic disorders that could lead to health complications. Advancements in the field of genetic screening have resulted in early detection approaches that allow prospective parents to identify whether or not foetuses in the womb could be carrying harmful genetic disorders that could manifest at childhood or adulthood (Michal & Schomburg 2013).

SNPs can also be used in genetic screening to support personalised medications for people across the world.This would be based on the premises that different individuals have varied patterns of ingesting and metabolising medications as a result of the uniqueness in their genomes.Thus, it would be important to design and treat human beings with drugs that would target their genetic pathways to cure disease conditions.Therefore,screening for genetic variations has important applications in disease prevention and treatment.

Support on behalf of 23 and Me

23andMe has been at the forefront of promoting the adoption of genetic technologies in detecting disease conditions.The company developed and sold a personal genome service (PGS) that could be utilised to assess the chances of developing illnesses like cancer and diabetes mellitus,among others (Allyse 2013). Customers of the product put saliva on a PGS device that analyses SNPs to determine the probability of an individual to develop a disease (Allyse 2013). In order to clear the application, it would require a series of scientific-based studies that would aim to assess the clinical advantages and disadvantages of the service. The studies would take a long period of time. However, the application should be used to help people know their genetic predispostion to various diseases while the studies are conducted. The service has the potential to reduce mortality rates associated with diabetes and heart problems,among others. Also,if the genetic service is continued,it would significantly reduce morbidity caused by various diseases that could be detected through SNP analysis utilised by the personal genome package. The service should also be allowed to continue and be applied in genetic counseling.For example, a couple preparing to marry would need to use the PGS to assess their SNPs so that both the male and female partners can know the disease risk they would give their children. In conclusion,the PGS has advantages that outweigh the limitations.Thus,it should be continued to be used.

Support on behalf of the FDA

23andMe has violated the regulations of the FDA by marketing the PGS package that intended to be used for the diagnosis of diseases,among other applications in the health care sector (Taylor 2012; Dickenson 2014).It is unethical for the company to sell the PGS without undergoing clearance. Some applications of the service are quite alarming. The company purports that the PGS could assess the risks associated with BRACA gene mutations in the development of breast cancer. It has been shown that false positive or false negative results of such a health condition could impact an individual negatively (Dickenson 2014). For example,if PGS shows that an individual has risks for breast cancer (false positive results),then he or she could undergo unnecessary prophylactic surgery or other morbidity-inducing actions.

On the other hand, false negative genetic assessment results could make a person not take steps towards mitigating effects of actual genetic risks (Wilcken 2011;Taylor 2012). Currently,the PGS does not have clinical and analytical validation,yet it is being used to produce results that could be used to harm the body irreversibly (Wilcken 2011;Taylor 2012).

In conclusion, the service should be discontinued indefinitely until a time when an adequate amount of research findings will support the benefits and safety of the application.In conclusion,biomedical researchers should be involved in studies to assess the benefits of the PGS.


Allyse, M 2013, ‘23 and Me, We, and You: direct-to-consumer genetics, intellectual property, and informed consent’, Trends in biotechnology, vol. 31, no. 2, pp. 68-69.

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Dickenson, D 2014, Testing times for the consumer genetics revolution, Web.

Michal, G, & Schomburg, D 2013, Biochemical pathways: an atlas of biochemistry and molecular biology, John Wiley & Sons, Hoboken, NJ.

Taylor, A, 2012, ‘Commentary: 23andme… and you?’, Biochemistry and Molecular Biology Education, vol. 40, no. 1, pp. 63-64.

Veltman, JA, & Brunner, HG 2012, ‘De novo mutations in human genetic disease’, Nature Reviews Genetics, vol. 13, no. 8, pp. 565-575.

Wilcken, B 2011, ‘Ethical issues in genetics’, Journal of paediatrics and child health, vol. 47, no. 9, pp. 668-671.

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