Where Are We Heading With Genome Analysis Biology Essay


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It all started in October 1990. The Human Genome Project was a coordinated effort by the U.S. Department of Energy and the National Institutes of Health [1]. It was officially completed in April 2003. However, this was just the beginning of a whole new world. The Human Genome Project illustrated to us that Genome Analysis would be the next step for humanity. It will be playing a major role in our daily life in the future. Imagine a world like the science fiction film, Gattaca, but with more enhanced genome analysis technology that can determine the role of every single base pair in the human genome and no existence of so-called 'genetic diseases'. Now, let us take a step back to the present. In 2012, our genome sequencing/ analysis technology, which are still in its early stage (still only use in scientific laboratories), take another large step forward. Life Technologies announced the Ion Proton Sequencer, which can analyse entire human genome within one day under a $1000 budget [2]. With the technology progressing rapidly, humanity needs to make a decision on the uses of genome analysis. It is up to us to weight the positive and negative impacts of this technology and draw a boundary on the uses and implications of this ground-breaking technology.

Genome analysis is a process, which involved the use of different biotechnological techniques (PCR, Gel Electrophoresis, and DNA sequencing) in order to determine the base pairs in the entire human (or animals) genome. Then the scientists would compare these base-pair sequences and genes to others' base-pair sequences and genes, to determine their functions and role in our bodies. In addition, it is very useful for detecting mutations in our genome and identifying causes of rare/genetic diseases.

With the world population exceeding 7 billion people in 2012 [3], many complications arises: global warming, cancer and other diseases, crime, and scientists debating over the causes of extinction of Neanderthals. All of these problems and human needs/ demands can be met with genome analysis/sequencing technology. The main needs/demands of this technology come from the healthcare sector. Currently, genetically linked diseases/disorders and hereditary diseases/disorders are posing threats to humans with growing numbers of cancer and diabetic patients. Cancers and Diabetes are caused by both genetic and environmental factors. According to World Cancer Report, cancer rates could increase to 15 million new cases in 2020 [4] and from the World Health Report in 2002, 7.1 million people died from cancer each year [5]. This number probably increased considerably over 10-year's period. Currently, there are over 180 million of world population suffering from diabetes and two-third of them lived in developing countries (WHO) [5]. Treatments for these two diseases are still expensive, even with the aid of production of insulin through gene cloning. Most people living in developing countries, whom work on day-by-day basis for food, will not be able to afford costly treatments. Furthermore, over 7 million new-born babies are born with genetic diseases/disorders, 90% of them are from low and middle-income (developing) countries (March of Dimes Global Report) [6]. One in every 1,000 infants is born with trisomy 21 resulting in Down syndrome; these infants also suffered other deficits like hearing and heart conditions (WHO) [7]. There are many more patients suffering from other genetic diseases, I have not mentioned (Haemophilia, Huntington disease, Sickle cell Anaemia, etc.). With genome analysis, we would understand more and detect these hereditary diseases/ disorders at the early stage. This can lead to the development of the treatment or cure for diseases and preventive measure for those who are highly susceptible to disease (caused by gene and environment) like cancer and diabetes. Furthermore, Genome analysis can be used in agricultural sector in determining traits for developing food crops that is pest and drought resistant [8]. It can be used for analysing microbial genome, so we can learn the functions of these microbial and utilised them in disintegrating toxic waste or producing biofuels (Genomic Science Program) [8]. Overall, this technology can improve the standard of living and the healthcare system.

In the near future, the genome analysis/sequencing would be more accessible for doctors, general practitioners, police force, and us, Homosapien citizens. We would be using the later versions of MinIon, a USB memory stick-sized DNA sequencing machine produce by Oxford Nanopore Technologies [9]. The DNA sequencing done by this technology will be fast and easy with no need of amplification of DNA samples and the burden of resembling DNA fragments every few hundred bases [9]. Alternatively, we could be using the cost-efficient (less than $1,000 per one genome) Ion Proton Sequencer, which used Ion semi-conductor sequencing (Ion Torrent) method developed by Life Technologies [2]. In the present, the scientists are building a genome library to determine the functions and characteristics produce by base pairs in each gene, while these two rivalries companies are competing to develop a fast, easy, cost-efficient way of analysing our genome. Each technology has its own advantages and disadvantages. The advantages of both technologies are already mentioned above. Currently, MinIon is not capable for sequencing the whole human genome and incurred a high cost of sequencing. In order to sequence the genome, a larger model called GridIon must be used. GridIon had a relatively high error rate of 4% [10]. While the Ion Proton Sequencer had, a relatively low base pair reads of 100-200. These technologies are not fully developed for commercial use and our genome database is insufficient for used by public healthcare system. We cannot judge the efficiency of these two technologies yet, since they are still in development stage. When these technologies are fully developed, genome analysis would be more accessible by the public and will help significantly improve the healthcare system.

With these two technologies fully developed, genome analysis could be available commercially for a normal person and finally for poorer people in developing countries. The Public Hospital could have one of these machines to sequence a person's genome and determine their genetic disorder/diseases or possibilities of genetic diseases. By knowing the genetic diseases you have, you can adjust your lifestyle (environmental factor) to suits your diseases. In addition, the possibilities of diseases like cancer and diabetes arising could be minimised by adjusting your daily routine and diet. If you have a gene that determines a high chance of having diabetes, you could adjust your diet with more healthy food and exercises more. Especially for poor people in developing countries, by knowing the possibilities of arising diseases their can provide a correct preventive measure, because if the diseases arise they will not be affordable the treatments. The most famous case of genetic analysis is the discovery of mutation in E-cadherin genes that cause gastric cancer in McLeod family in Bay of Plenty (Health Research Council of New Zealand) [11]. This gastric cancer has taken many of family members in this Whanau, by detecting this mutation many lives is saved and the misconception of this is a curse by family member is erase. The ones who have been detected with the mutation had received gastrectomy to take out the cancer cells. People with genetic diseases can receive treatments in early stages, where diseases are easier to control and dealt with. They can learn the factors that delay and speed up the development of their diseases and apply it (E.g. Smoking can increase chance of lung cancer). In addition, it will help in the development of pharmaceuticals in treating and curing diseases like HIV. New treatments like gene therapy could be put into used. Beta-Thalassemia can now be treated by transplanting corrected stem cells to restore haemoglobin production, without the need of lifetime blood transfusion [12]. Pharmacogenomics will be put into used as well; it allows us to choose a suitable medication/ drugs according to our genetic variation to prevent adverse drug reactions and allowed our body to fully utilise it [13].

Genome analysis can help us determined the factors that allowed us to live longer. There are certain genetic markers that determine the longevity of our lives. Although longevity of our lives is determined by both environmental and genetic factors, many researchers and scientists prove that genetics play a main role in living longer life. Scientists have sequenced the whole genome of a woman age 115 years old, who had a mental performance of woman aged 60-75 years and no signs of dementia and Alzheimer [14]. Dr. Henne Hostege thinks that there are genes that protect us against Alzheimer's and let us live longer life [14]. In addition, scientist discovered that mutation in gene IGF1 (Insulin-like growth factor 1) allowed centenarians to live longer due to slower maturation and ageing process [15]. Another gene called FOXO3A is involved in allowing people to live longer; people with specific G copy in the specific location in this gene will have the chance of living longer (Dr. Bradley Wilcox, Kuakini Medical Centre) [16]. This gene is also involved in insulin pathway and signalling. It seems that gene involve in insulin pathway determine our lifespan. People mainly with mutation in insulin pathway genes, which slow down their ageing and maturation process, live longer. In the future, it may be possible for us to trigger a specific mutation in these insulin pathway genes, or even turn it "on" or "off" in order to extend our lifespan. This mutation in insulin pathway genes could be useful for diabetic patients as well, allowing us to find a permanent treatment for diabetic patients.

Furthermore, it can allow us to detect genetic disorder/diseases in infants, foetus, and even embryos. Currently, doctors can detect over 3,500 genetic faults using a test on foetal sac [17]. These tests can allow parents to quickly diagnose disorders in their newly born infants and allow them to put on preventive measures for the diseases with better diet and environment. In addition, this can help parents understand more about their child who have difficulties and allowed them provide a special learning environment to suits their child disorders. For unborn child, this allows the parents to check for disorders in their foetus, giving them a chance for abortion, if the child have too many disorders (can give both parents and child difficulties in life). This can raise many ethical issues as well. Preventive measure could be put on before conceiving a baby, by testing both parents' genes for alleles and chances of genetic disorders. If too many disorders could arise, they could adopt a child or resorted to sperm-donor. This could further lead to customisation of your children with specific traits in the future, like in the film Gattaca. Within the near future, we would able to customise and personalise our diet, exercise, offspring, education, medication according to our genome - or even customise the genome itself.

Inevitably, this technology will raise many ethical and social issues. Prenatal or embryos screening is currently raising a massive ethical issues with the increasing abortion rates (pro-life campaigners). In addition, the customisation of offspring, which is the future of prenatal screening would likely widened the gap of inequalities and introduce a new kind of discrimination against people with inferior genetics (Dr. Richard Hayes) [18]. People could be offer or decline a job based on their genome. People with the chance of diseases they could impair their job (e.g. a person with a high chance of heart attack would be denied from being a pilot) [19]. Insurance firms could use this genetic information to decide to accept their future clients. People with chance of complications/disease would be forced to pay higher insurance fees. This could lead to many other kind of genetic discrimination. The misused of genetic information is also an issued, privacy of the person's should be protected. With genome analysis available at a cheaper cost, the ownership of the genetic information would be a problem. Is the ownership of that genetic information restricted to the natural owner of that genome or the scientists who analyse it? Some scientists would allegedly misinform their patients, like in John Moore case (he had leukaemia) and used his genome in scientific research without proper consent [20]. They also apply for a patent on Moore's cell line. They determined to use the study of his genes for financial gains. More and more genome would be store in these firms database without proper consent from the patients and this can lead to intrusion of privacy. Genetic identity of a person could be exposed to the public, jeopardising their private lives and future careers.

Religious beliefs are put at risk as well with genome analysis. The Origin of human from Adam and Eve could be invalid, since complexity of human genome required starting population of 10,000 (The Search for the Historical Adam) [21]. Furthermore, the increased in abortion rate due to genetic disorders would raise concerns in many religion, especially from the Catholic Church. People would reject their own offspring, because of their imperfections/disorder. Catholic Church and many Buddhists considered abortion as a murder and a mortal sin (Buddhism Five Precepts and The Gospel of Life) [22].

Laws like genetic patents lead to many hotly debated legal issues. Gene patents allow companies to patented genome sequence they discovered, putting a barrier on further used of the research information on new genes by scientists. Many argue that gene is a product of nature should not be patented (American Civil Liberties Union) [23]. Currently, genes like BRCA1 and BRCA2 (now intellectual property of Myriad Genetics) are patented. BRCA is a gene that accounted for breast and ovarian cancers, and now many women need to pay $3,500 for a test for these two cancers to Myriad [23]. In addition, scientists would not be able to access any analysis information on BRCA. With more chance of firms patenting genes, the cost of specific genes analysis will be more expensive, and information about many genes will be kept as a secret by these firms and not available for scientists to conduct further studies.

With people aging at a slower rate and higher life expectancy, world economics would be adversely affected. The transfer of wealth between older and younger generations would be slower due to increasing number of people age over 65 years old holding on to their employment (Jamais Cascio, Institute for the Future) [24]. In addition, there would be increasing amount of pensioners and old people need to be take care by government and their families. The expenditure on healthcare system for old people would increase, while younger generations would live with parents for longer period. Therefore, economic growth would be slow down and innovativeness brought in by younger generations would be at the minimum. Firms would prefer to employ older employees over younger ones, due to their skills, experiences, and reliability. It would be more difficult for graduates to find jobs. Furthermore, it would lead to overpopulation and there would be insufficient amount of natural resources to sustain all living humans, which can lead to war and conflict. Another problem is a significant slowdown in cultural and intellectual evolution of human, due to ideas from older generation lasted for a longer period (since they live longer).

In my opinion, I conclude that genome analysis/sequencing can offered long-term solution to growing numbers of diseases/ abnormalities and other problems. The positive impacts clearly outweigh the negative impacts. Current needs and demands of more cost-efficient genome analysis to reduce numbers of genetic-related diseases patients must be met. Over 180 million diabetics and 7 million genetically disorder patients would be benefited instantly (WHO) [5, 6]. Patients who inherited cancer would benefit from this as well. I think that genome analysis would be very beneficial for determining genetic diseases/disorder in an early stage, so patients could live a better, stress-free life like the detection of mutated E-cadherin gene in McLeod family (Dr. Parry Guilford) [11]. The study of insulin pathway genes like IGF-1 and FOXO3A would lead to humans living a longer life without aging-associated diseases like hypertension and Alzheimer's (Dr. Henne Hostege) [14].The only application of genome analysis that I disagree, is the use of prenatal testing of foetus, which can lead to increasing abortions. I believe that it is immoral to terminate a life form and agree with Dr. Richard Hayes that it can lead to a widened gap of inequalities and extreme forms of discrimination [18]. Abortion should be applied in rare cases of extreme disorder/disability. Governments are working on minimising the negative impacts by passing new law, protecting consumers. To minimise the negative impacts, laws, rules and regulations on genome sequencing must be clearly stated and enforced. The Genetic Information Non-discrimination Act (GINA) of 2008 already minimise genetic discrimination in applying for insurance and employment [25]. Strict laws on used of individuals' genome must be imposed to ensure anonymity of the owner and protect his/her identity. I totally agree that this technology must be push forward, but I also wanted to make a clear point that we cannot achieved our goal of living in a world with less diseases/disorders without considering our environmental factor as well. It is as important as our genetic make-ups. Our diet, exercise, routines, environment are all equally important. With regular exercises, healthy diet of balanced of different food groups, active daily routine, and the pollution-free environment, we can easily achieved this goal. With the use of genome analysis and improve environmental factor, we would live a longer and better life.


www.who.int (World Health Organisation)

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