Human Genome and Its Potential Use in Health Screening - Research Paper Example

HUMAN GENOME AND ITS POTENTIAL USE IN HEALTH SCREENING Introduction Human genome is defined as a complete set of genetic information in human beings. They include both protein coding and noncoding DNA. This information is preserved within the 23 chromosome pairs as well as in the DNA molecule found in the mitochondria. The DNA content of human genomes found in the somatic cells is twice as much as that contained in the egg and sperm cells (haploid human genomes) which have close to 3 billion pairs of DNA base (Mockey 2004). Human beings exhibit differences in genomes ranging from one individual to the other With over 3 billion base pairs, the human genome consists of 22 paired chromosomes. This further comprises of Y chromosome (found in males only) and X chromosomes (two in females and one in males). A mitochondrial DNA is also inclusive in every mitochondrion. The genomes are further classified into noncoding and coding DNA sequences. The coding sequence is unique in that they are transcribed into mRNA to be later converted into proteins in a human lifetime. The other noncoding genomes which use the biggest fraction are not involved in encoding proteins but are instead used for other biological processes (Adolph 1997) Human biology, however, comprises of both the inherited and the environmental traits. It is important to understand that the environment human beings are exposed to can catalyze the occurrence of a disease when coupled with a genetic disorder. For example, an asthma patient is more likely to get an asthmatic attack when exposed to cold and dusty conditions as opposed to an average person. An individual can be said to have a sequence variation when there is an excess or complete absence of a chromosome. Epialleles are defined as identical genes but with differences only exhibited in their epigenetic states (Bodmer 1997). Further classified into three types, epialleles influenced by genotype, determined directly by the genotype of the individual and those purely independent of the individual’s genotype, they are influenced by environmental factors be they hormones or diet. Compared to animals such as chimpanzees that are purported to share a common ancestry with human beings, human beings have undergone a more sophisticated evolution as compared to chimps. (Charles R.Cantor, 2004). Human beings also exhibit many traits of diseases such as Klinefelter Syndrome, sickle cell anemia among others. How can the genetic variation in the genome be used in health screening? Genetic screening is defined as the search or screening for persons with symptomatic diseases with the aim to identify individuals with a genotype that predisposes them or their future offspring to a possible genetic disease. The screening has to be with accordance with medical principles as therefore very systematic. Further divided into 2 parts, genetic screening can be useful in reproductive information, research, as well as monitoring and surveillance. It is commonly used, however, in newborn screening, parental screening and susceptibility screening. It can also be used for forensic screening if need be (Muin 2009). Parental screening enables the parent- to-be to identify the probability of the fetus to be predisposed to various genetic diseases the parents might have. When and if the fetus may possess serious genetic defects which cannot be amended before birth, the doctors with the consent of the parents may terminate the pregnancy. Parental screening has been in existence from 1966 and has only gained popularity with the years. Another case of newborn screening to identify possible genetic diseases and consequently a health crisis of the newborn involves samples of blood or tissue. It is therefore advisable to screen Ashkenazic Jews for Tay-Sachs disease (Quackencash 2011).Besides the procedure being economically possible, scientists are in favor of the therapy as early detentions helps minimize potential irreversible damage or death to the infant. Forensic screening aims at identifying how a suspect in a given crime scene is linked to the evidence collected. Screening therefore is able to correctly give the similarities and the differences between the suspect and the actual person that committed the crime. This goes a long way in clearing the innocent and letting the guilty suffer the wrath of the law. Susceptibility testing, on the other hand, seeks to find how risky an environment is to the inhabitants (Timothy 1994). Information gathered can be helpful to both employees and employers as it can act as a basis for most decisions. For example, a person who is discovered to be at risk of asthma or is asthmatic will avoid working in an environmental that can accelerate the condition. Despite the many benefits associated with health screening, however, there are controversies surrounding the practice. As pointed out above, different groups of people divided along ethnic, racial and age lines are screened for different conditions. It is common for African Americans to be screened for sickle-cell anemia as opposed to any other people, for example. Therefore, doctors need to give the patients consolidated prior explanations for carrying out the tests. If this is ignored, fierce prejudicial battles might ensue. Another group opposes the practice on grounds of genetic discrimination whereby the “fittest” person is allowed to live, work and live in a certain environment at the expense of his unfortunate counterpart. (Timothy F. Murphy, 1994) Critics also cite ethical issues such as professionalism and confidentiality as another threat to the process. It should however be noted that the benefits outweigh the risks involved. Reasons why personal genome service (PGS) should not be sold at the current time Mandated with protecting public health by supervising and scrutinizing of medical procedures such as blood transfusion, selling and purchasing of over the counter medication among others, The Food Drug Administration (FDA) was formed in 1906 under the Public Health Act by the government of the United States. The FDA opposes the sale of PGS among American citizens because the information given to clients is misleading. 23andme company uses phrases such as “first step in prevention to enable users take steps towards mitigating serious diseases” to market the PGS. Proper research of the uses of PGS has not been carried out and this poses consequences due to misinformation by the suppliers. Grave health consequences may arise therefore when false positive or false negative assessments take place. Where a false positive or false negative assessment occurs, the patient will find themselves undergoing further death accelerating procedures such as chemotherapies, further screening whereas a false negative will result in a more tragic aftermath inn that one may not identify and actually treat a condition they suffer from. This carries the risk of that patients may resort to self -medication and others going as far as changing their medication depending on how their systems respond to such medication, without a doctor’s prescription (Palladino 2005). In case there is a mismatch between the patient’s genotype and the warfarin drug response mechanism, this could result in ghastly deaths in forms of thrombosis and/or bleeding. These deaths are however cut down when the patient is under the care of the physician. Number of deaths can significantly increase where the patient does not comply with the dose they are treating themselves on (Dennis 2001). The FDA feels that 23andme should not continue supplying until when it receives the state certificate to do so and studies into the PGS’s are extensively carried out to ensure that high quality drugs are released to the market. Measures to ensure that instances of self-medication among patients are reduced are supposed to be put in place. Reasons why 23andme should be allowed to continue supplying PGS Inter Vitro Fertilization (IVF), thou successful in treatment of infertility, is sometimes inefficient. 23andme provides clients with PGS and hence should be allowed to continue with its operations. The benefits include that only the fetuses that don’t carry problematic genes are born. One of the benefits of 23andme is its comprehensiveness. This is because despite having 3billion bases, scientists have a full interpretation of 10000-20000 of them. 23andme researchers are devoted to continue with working to come up with more profound research and better drugs. 23andme has documented 260 diseases and conditions which it has given full health interpretations to. A patient is well advised on any common condition enabling them to run “a probability test’ on their susceptibility and reduce the risks of suffering from the condition by a considerable percentage. 23andme also follows ethical practices such as confidentiality. Peoples’ results are handled with extreme caution. Patients are also advised on the traits that will change as medication is being taken. For example, a change in the eye colors of the patient when they are exposed to the drugs. Although most health risks learnt from 23andme are not big enough to make a person fear living with them, doctors advise that people respond to them as soon as they can. Reference list Dolph, K. 1997. Human Genome Methods (2nd ed.), Oxfrod Press, California Palladino, M. 2005. Understanding the Human Genome Project, New York: Chicago Press. Bodmer, W. F. 1997. The book of man:The Human Genome Project and the Question to discover our genetic inheritance (2nd ed.), Diane press, oxford. Dennis, R. B. 2001. Human Genome (1st ed.). American Press, Chicago Charles R.Cantor, C. L. 2004. Genomics: The science and Technology Behing the Human Genome (2nd edition ed.), Chicago Press, Masachusetts H.Mockey, E. 2004. How the Human Genome Works (1st ed.), Chicago, London Press. Lewis, R. 2010. Human Genetics:The basics (2nd ed.), London Press, London Muin, S. B. 2009. Human Genome Epidemology (2nd ed.), Oxford Press, Los Angeles Quackencash, J. 2011. Curiosity guides:The Human Genome (1st ed.), Chicago: Harvard Press. Timothy, F& Murphy, M. L. 1994. Justice and the Human Genome Project (1st ed.), Oxford, London Press. Read More