First Draft Of The Human Genome Project Biology Essay


Its one small piece of man... one giant leap for mankind (Mirror 2000). The completion of the first draft of the Human Genome Project in 2000 was a scientific milestone of significance with implications and meaning reaching far wider than the confines of the scientific community. The unlocking of our genetic code was an event widely covered by the press; the story replete with utopian promise engendering a united sense of accomplishment for the entire human race (Smart 2003). Predominantly optimistic uncritical reporting in the wake of the first draft, painted the event as a scientific accomplishment whose potential impact on society in terms of medical advance prompted more coverage than the science itself (Nerlich 2002),(Smart 2003). Discovery of the molecular predisposition to certain cancers and genes conferring Alzheimer's disease served to fuel the positive discourse in the completion of the first draft. 10 years into the 'post-genomic era', issues regarding the wider implications of unravelling our genome come to light. The growing availability of genetic testing in which individuals DNA can be read to predict array of ailments including non-medical predispositions such as criminality or intelligence generate issues regarding reductionism, a restricted view of the individual in which they are viewed as the summation of their genetic constitution. Special interest groups warn of the resurrection of genetic discrimination akin to 20th Century eugenics movement in which perceived differences between individuals were construed as biological and therefore 'real' justifying differences in treatment. Issues regarding the ownership and privacy of genetic material arise with relation to insurance company access. The possibility for one's genetic constitution dictating something non-organic such as insurance quotes suggests a pervasive deterministic quality to the gene. The Ethical Legal and Social Implications committee (ELSI) subsidised by the Human Genome Project, represents acknowledgement by the scientific community of responsibility towards the use and societal implications of their work (Yesley 2008). The HGP's research and outcomes are portrayed as inextricably tied to their social impact in terms of moral and ethical boundaries. However the contents and scope of ELSI research are directed by scientific administrators directly involved in the HGP highlighting vested interest in the scope of its research. The pre-packaging or framing of the technology's implications by proponents of the HGP suggest the possibility for bias towards press coverage of certain ethical issues. Considering the implications for society in light of these events, the role of the press as a forum for public debate and engagement with science bears extra weight and significance. The goal of this project is to explore the nature of ethical insight regarding human genome research destined for the public sphere. This includes the types of issues discussed, the prevalence of ethical information and the possibility for bias in terms of the noted journalistic practice of source dependency. Additionally the tone of articles disseminating ethical information will be analysed in a bid to determine the extent of critical reporting, essential for maintenance of the press's assumed role as central to the democratic decision making process.

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The Human Genome

The 'Genome' is a collective noun encompassing the complete genetic constitution of an individual (Clarke 2006). In all living beings from microbes to elephants, vast coils of DNA are arranged into units named chromosomes (McConkey 1993). The human genome is comprised of 23 chromosome pairs, two of which determine one's sex. It is estimated that amount of DNA contained within a single cell totals 3 meters in length (Campbell 2000). Despite its vast capacity, only 1.5% on the human genome is found to code for proteins (IHGSC 2004). The coding regions of DNA or 'euchromatin' were a focus of the Human Genome Project which identified the circa 25,000 coding genes. Disruptions or 'mutations' to these genes are responsible for some for the most serious hereditary disease such as Huntingdon's Chorea, cystic fibrosis and forms of breast cancer highlighting the huge potential impact on research generated by their discovery.

The genome is comprised of DNA or deoxyribonucleic acid, forming two stands which coil around each other creating a double helix. The macro 3D structure of DNA is comprised of subunits called nucleotides. Each nucleotide is comprised of a phosphate, a sugar molecule and a base. The nucleotides form a chain in which the phosphate and sugar groups of alternating nucleotides join, creating a strand known as the sugar-phosphate backbone (McConkey 1993).

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There are four kinds of bases found in genomic nucleotides: thymine, cytosine, guanine and adenine: abbreviated to T, C, G and A respectively. The bases operate with a strict rule of pairing: C links with G and A links with T. The complementary pairing is the central mechanism which ensures the regular structure of the double helix. The constituent spirals of DNA link as the bases protruding from the sugar-phosphate backbone form bonds in their respective pair, represented by the horizontal steps within the helix (Fig 1.). It is the 3 billion base pairs in DNA precisely arranged in every individual's chromosomes which form the basis for most of the physical differences that differentiate us from every other human being (McConkey 1993).

The Path to Unveiling the Genetic Code

Curiosity in the similarities between organisms linked by descent, emerged and intensified over the centuries (Barnes & Dupr' 2008). Examples include agriculturalists in the employment of rudimentary knowledge regarding the expectations of inheritance through selective breeding in their stock. The aristocracy reflected common traits in portraits of their ancestors noting perhaps a prominent nose or forehead. These reflections from the basis for the empirical subject today we call 'genetics'.

In 1859 Charles Darwin published the Origin of Species, recognised now as the first detailed account of evolutionary theory. The book detailed that variation in traits amongst organisms necessitated that some were better adapted for survival, producing more offspring thereby increasing their numbers. 'Natural selection' was the term given to the natural forces acting upon organisms, initiating a shift in the frequency of traits in subsequent generations (Darwin 1859). The groundbreaking proposal that organisms evolved over generations based on their ability to survive challenged the deeply entrenched ideas regarding God in regards to the design and creation of life (Pannenberg 2006). Clashes with the Church of England, who dismissed his theories outright, highlight a rocky start to the field of genetics. However, Darwin failed to acknowledge the mechanism in which traits are systematically propagated through generations. The concept of the 'gene' eluded him. Not until a publication from agrarian monk Gregor Mendel, was some light shed upon patterns of heritability (McConkey 1993). Mendel's work aptly demonstrated that traits in the pea plant such as a smooth or wrinkled pod showed a predictable pattern or 'law' of inheritance. His paper pointed to a system whereby units of hereditary information are passed through generations which manifested according to their dominance in the subsequent plants (Barnes & Dupr' 2008).

Not until nearly a century later was Mendel's unit of heritable information identified. In 1953, the pathway to unveiling the human genome was initiated when James Watson and Sir Francis Crick noted the significance of X-ray photographs taken by Rosalind Franklin (Nerlich 2002). They were able to decipher DNA's double helical structure and its constituent chemical components. For the following decades the subject of human genetics was characterised predominantly by the identification of genetic disease through their symptoms and patterns of inheritance (McConkey 1993). The molecular basis for diseases such as breast cancer, neurofibromatosis and Huntington's Chorea, remained unidentified.

The 1980's saw a move towards more concentrated focus on unravelling the complexities of the elusive molecule. In 1986 the US Department of Energy's Office of Health and Environmental Research allocated $5.3 million for the Human Genome Initiative forming the basis for what is now known as the Human Genome Project (HGP) (Nerlich 2002). Their goal was to identify the circa 25,000 genes in the human genome, and sequence the 3 billion base pairs constituting DNA (U.S. Department of Energy Office of Science online).

June 2000 welcomed the dawn of the post-genomic era. The completion of the first draft of the HGP was celebrated by a joint UK/US press conference in which Prime Minister Tony Blair and American President Bill Clinton heralded the significance of the event. The massive potential for advance in the medical sciences understandably dominated the discourse (Nerlich 2002). The conference framed the event in a light of promise and hope, with the achievement presented as far more than mere medical breakthrough; 'Today we learn the language in which god created life'. Throughout its brief history, the unveiling of the genome has generated profound societal impact, challenging religious beliefs, ideologies and understanding regarding the nature of life. As the field of genetics moves from a stage of discovery to one of application, the creation of new medical technologies designed in light of disease written into the very fabric of life necessitate that this impact will unlikely fade.

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Medical Advance and Human Genome Research

The 'genome approach' of discerning the genetic basis for hereditary disease has provided a powerful set of tools promising to change our practice of medicine (C. Caskey). Throughout the course of the genome project, the discovery of genes responsible for some of the most serious genetic ailments were identified, including one conferring a 100% probability of developing Alzheimer's. In 1995, work contributing to the HGP from the Sanger Centre, located the BRCA2 gene, a predictive indicator for the risk of developing breast cancer (Sanger). The rapid advance in DNA based technology since the completion of the HGP has facilitated that the benefits of these discoveries are being manifested in the screening for diseases at pre and post natal stages, and during the course of one's life, generating a new lease of life for preventative medicine. Individuals, who are screened for 'risk' genes conferring an increased likelihood of developing breast or colon cancer, are able to adapt their lifestyles in response to the knowledge of their predispositions (Novas & Rose 2000). Newborns are now tested for a host of illnesses including cystic fibrosis and the metabolic disorder Phenylketonuria. Diseases with existent therapy options such as these, denotes the growing phenomenon of individualised health care generated by human genetic research (Willard 2005). With increased availability of genetic screening processes, the prospect of examining a patient's entire genome in order to make individualised risk predictions and treatment options is projected to have a transformative role in healthcare (Angrist 2005). Most significantly, by discerning the genetic traits causing disease, their resultant effect on biological pathways within the body can be better understood, facilitating the path to the development of new drugs and treatment (Hood; Gaskel). A leap in the impact of preventative medicine has already been initiated by the technique of Pre-implantation Genetic Diagnosis (PGD). Parent's have the option to screen embryo's in vitro for a host of genetic afflictions, prior to implantation in the womb. Through this method, the development of disease such as cystic fibrosis and Huntingdon's can be evaded completely, negating the need for eventual treatment or care, opening a new frontier in treatment of disease.

Whereas HGP research has generated benefits in the fight against serious hereditary illness, the discovery of genes pertaining to behavioural characteristics has prompted the suggestion for a wider definition of the term 'disease'. The rise in causal explanations for even complex phenotypic traits such as intelligence and propensity towards violence are increasingly cited as rooted in genetic origin (Brave, 2003). Headlines including, 'Youth Violence Tied to Genes' serve to compound a sentiment towards a pervasive deterministic quality of the gene which does not adequately convey the interactive, environmentally contingent aspects of genotypes (Katz, 2008).

However, direct genetic influences on intelligence do exist. Genetic disorders Phenylketonuria and Fragile X syndrome confer carriers with a lower IQ, a phenotype targeted by genomic medicine (Brave, 2003). James Watson suggests that not only is a sub-average IQ resultant from disease in the above examples, but all cases of impaired intelligence are examples of morbidity. His views support a broad definition of disease, whereby all genetic factors eliciting the prospect of limitation to an individual's personal, social and economic success are viewed as deleterious candidates for de-selection. The concept of medical de-selection as opposed to 'enhancement' is a necessary distinction when discussing future applications of PGD since both engender differing sets of implications at the individual and societal level. Medical rationalisation by the prevention of a debilitating disease serves to partially sever the above example from notions of enhancement however the line is not always so easy to distinguish.

Bioethics of Human Genome Research in the Post-Genomic Era


Along with associated medical benefits, the advance of human genetics has provided fears of harmful consequences (Yesley 2008). Although the negative consequences, and many of the potential medical applications, remain predominantly speculative, concerns regarding negative implication relate genetic research as the opening of a proverbial Pandora's Box, paralleling nuclear physics in the advent of the creation of atomic munitions. The description of the HGP as 'The Manhattan Project of biomedicine' references the prospect of harmful downstream implications (Lenoir & Hayes; Sloan). Concerns regarding the association of genetics with past and potential eugenic practices, and the threat of genetic discrimination have prompted a widespread desire to anticipate, rather than react to,

problems that could result from genetic technology. This proactive goal presents policymakers with the difficult challenge of determining, in advance, how genetic

technology might be misused and how to prevent such misuse from occurring. [incomplete]


PGD is eugenic in nature. The technique mandates the de-selection of embryos carrying 'undesirable' genetic traits, altering the gene pool of future generations thereby facilitating the self-direction of human evolution or 'eugenics'. As such contemporary genetics has been faced with long standing ethical attention, generated by its social history. The surrounding events which culminated in the murder, torture and sterilization of millions during the era of the Third Reich in German history, were resultant from the science of genetics (Caplan ). Mainstream genetic theories led to assumptions regarding the relative hierarchy of race, justifying the ordering of sterilisation or killing of children with mixed racial backgrounds. Those deemed genetically undesirable were deemed a threat to the genetic stock of society. Through coercive techniques the German eugenics movement sought to eliminate those thought to have predispositions to mental illness, alcoholism amongst other disabilities. Some disability rights groups liken contemporary application of human genetic research in reproductive biotechnology, as a reincarnation of these eugenic ideals, albeit with a normative twist. An emphasis on autonomy in parental right to deselect embryos through PGD, serves to server modern eugenic practice from coercive 20th century regime, yet an underlying ethos remains the same; the perception of certain gene types as 'undesirable'. In the UK a series of tight restrictions regarding the application of PGD necessitate that the traits selected against are serious, single-gene disease mutations (Ref HFEA). These restrictions provide little in the way of ebbing concerns regarding a potential 'slippery slope', whereby a relaxation in laws may enable parents to pick and choose the characteristics of their children. [incomplete]