Note: If by any chance you, the reader, knows about genetics history and basic Mendelian laws, you may be bored by the first couple of sections, so just jump straight to The Human Genome Project and the gene as a cultural icon section's fourth paragraph!

Essay: The Impact of Genetic Technologies on Society

The generation of offspring may be the only way of “genetic-self” preservation for years to come. As ephemeral beings, it’s only natural for humans to become concerned about heritage as a means to prolong their legacy on Earth. In this context, genetics emerges as the science in charge of explaining the inheritance of characteristics from parents to the next generation. This essay will try to explore the several phases of genetics in history: how it has moulded society from its very beginnings, defined important aspects of our everyday lives, and how it may revolutionize the future of the human species.

From practical genetics to Mendel [1]

As mentioned earlier, genetics is not a new concept. The idea of offspring acquiring traits from their parents should have become evident to the first human civilizations. What’s more, during humanity’s process towards a sedentary lifestyle, phenotypic advantages of some crops or domestic animals over others stimulated the idea of selective breeding, probably one of the first genetic notions. This initiative, also known as practical genetics, resulted in the careful controlling of the mating of the “better”, more productive individuals, while getting rid of the “worst”. Thus, genetics begins as a necessity for the forging of towns and villages, through the increasing of production efficiency, in order to maintain larger social associations.

The first notions of the possible heritage material came from history’s early philosophers, such as [http://en.wikipedia.org/wiki/Hippocrates Hippocrates] and [http://en.wikipedia.org/wiki/Aristotle Aristotle]. They both agreed that the heritable traits were carried in semen, where, either the semen from both parents (for Hippocrates) or the interference of the mother’s blood with the father’s semen (for Aristotle), were finally mixed into a whole new individual who would carry characteristics from both. Even though the fall of the Greek civilization and the advent of the Roman Empire and the Middle Ages slowed down science for more than a thousand years, practical geneticists, namely farmers and stockbreeders, had already achieved important advances. First, the realization that some stable varieties nearly always bred true, with their offspring having the same characteristics as their parents. Second, that it was sometimes possible to mate parents from different varieties to form [http://en.wikipedia.org/wiki/Hybrid_(biology) hybrids]; and third, that even stable varieties occasionally produced offspring different from either parent.

Practical genetics, however, was purely empirical, and society had yet to discover any laws of inheritance, that is, until [http://en.wikipedia.org/wiki/Gregor_Mendel Gregor Mendel]’s experiments (XIX century). In accordance with Hippocrates’s conjectures, Mendel described heritable traits as physical substances (genes) that retained their identity in hybrids, never blending together. Differing from Aristotle, Mendel confirmed the importance of both parents towards the generation of an offspring’s traits, where each organism, while having two copies per gene (each from one parent), produces gametes carrying one gene copy for each trait. Another of Mendel’s discoveries was that a gene form ([http://en.wikipedia.org/wiki/Allele allele]) may be [http://en.wikipedia.org/wiki/Dominance_(genetics) dominant over another (recessive)], and that different alleles would be sorted out to sperm and eggs [http://en.wikipedia.org/wiki/Mendelian_inheritance randomly and independently], where all combinations of alleles are equally likely. Even though ignored at first, the rediscovery of Mendel’s work, together with the emerging [http://en.wikipedia.org/wiki/Cytology cytology], [http://en.wikipedia.org/wiki/Cytogenetics cytogenetics], and advances in [http://en.wikipedia.org/wiki/Microscopy microscopy], enabled men to locate these genes in [http://en.wikipedia.org/wiki/Chromosome chromosomes], map them, and analyze their patterns of inheritance.

The Human Genome Project and the gene as a cultural icon

Throughout the next two hundred years, scientists delved deeper into the basic Mendelian laws. [http://en.wikipedia.org/wiki/Gene Genes] were known to exist and found to be packaged in chromosomes, however, the exact composition of genes and how they work was still an enigma [1] . Biological models such as the rod shaped bacterium Escherichia coli, and the fruit fly Drosophila melanogaster, enabled science to describe what is now known as the [http://en.wikipedia.org/wiki/Central_dogma_of_molecular_biology central dogma of molecular biology]. This theory states that genes are a compilation of a four letter code in the [http://en.wikipedia.org/wiki/DNA DNA molecule], that they are read and transcribed into another code called [http://en.wikipedia.org/wiki/Messenger_RNA messenger RNA], and finally interpreted and translated into a [http://en.wikipedia.org/wiki/Protein protein] (biological effector) by the combined interaction of [http://en.wikipedia.org/wiki/Transfer_RNA transfer RNA] and [http://en.wikipedia.org/wiki/Ribosome ribosomes]. Furthermore, the notion of genes as the unchanging units of heredity was found to be wrong, as they may be, and constantly are, altered by [http://en.wikipedia.org/wiki/Mutation mutations]. In summary, the genetic code carries the information necessary to build a living being, from a bacterium to a fungus, a chimpanzee or a human. Research in gene sequencing and its association to a particular biological function were the first steps towards [http://en.wikipedia.org/wiki/Genetic_engineering gene engineering], where scientists discovered ways of transforming organisms with [http://en.wikipedia.org/wiki/Transgene transgenes] (genetic information coming from another species). Pharmaceutical industries and other large companies, encouraged by the possibility of using this information to revolutionize industrial and medical market, accelerated genetics evolution by funding its research.

In this context, the realization of a [http://en.wikipedia.org/wiki/Human_Genome_Project Human Genome Project (HGP)] was the next natural step to make. The HGP refers to an international 13 year effort (finished in 2003) whose goals were: the identification of the approximate 20,000 genes in the human DNA, the determination of the sequence of the 3 billion base pairs (letter code) that make up human DNA, the storage of this information in databases, the improvement of tools for sequence analysis, the transferral of related technologies to the private sector, and the addressing of the the ethical, legal, and social issues that may arise from the its discoveries [2] .

Since differences in genetic coding are, in principle, what makes an individual unique among members of its own species, the HGP inspired enormous symbolical expectancies in the general public. This could be because certain achievements, such as the first lunar landing, atomic fission, and in this case the determination of the human genome sequence ultimately change how humans think of themselves [3] . Determination of the internal genetic scaffold around which every human life is moulded, and how this has been handed to us from our ancestors, is crucial towards the understanding of how humans have evolved, revealing just how similar or different we are to each other and to other species: what is it exactly that makes us humans.

Advances in genetic comprehension made way for the geneticization of society, “an ongoing process by which priority is given to differences between individuals based on their DNA codes, with most disorders, behaviours, and physiological variations [...] structured as, at least in part, hereditary” [4] . Thus, the development of genetics as a science has progressively influenced genetic knowledge and technology in particular areas of society and culture. Influence that manifests itself directly by the application of gene testing; and indirectly through new concepts of health, disease [5] , and politics. Dunn and Dobzhansky [6] sustain that in the uniqueness of each individual, that is, that everyone of us is different to anybody that has existed before and probably different than anyone who will exist, lies the fundamental base for ethics and democracy. Studies in Western society show diverse references to DNA, genes, and genetics –be it film, television, news reports, comic books, ads or cartoons; in addition to the media’s allusions to the idea that the essence of man, his true self, is in some way or another found in his genes [5] , [7] .

Medicine, too, is currently undergoing an extraordinary transition from its initial morphological and phenotypic orientation towards a molecular and genotypic one, promoting the importance of prognosis and prediction [8] . Thus, public health is suffering a massive change on disease conception, whereas pre and post–natal gene therapy to diminish susceptibilities to some disorders, and personalized drug prescriptions as treatment are no longer ideas, but possibilities.

Geneticized future: the gene dream and the gene nightmare

Molecular geneticist Peter Little’s book [9] portrays the life of two very different individuals living the gene dream and the gene nightmare, respectively, in the same geneticized future. The former illustrates a world where “disease and suffering were an echo of the past” [9] : where prenatal DNA characteristics (disease susceptibilities and even personality issues) of fertilized embryos may be screened for the selection of the desired baby to be implanted via in vitro fertilization; where DNA may be tested for drug-response indicators so as to ensure future drug treatment perfectly matching the patient’s genetic profile. A future where severe burns may be completely healed or dismemberments entirely re-grown as a result of stem cell research; where personality disorders such as attention-deficit or alcohol abuse are treated with combinations of cell receptor regulators. A reality where many infectious diseases have been taken care of through appropriate drug targeting, where cancer is no more and neurodegenerative ailments such as [http://en.wikipedia.org/wiki/Alzheimer's_disease Alzheimer's disease] and [http://en.wikipedia.org/wiki/Huntington's_disease Huntington’s chorea] may be treated.

In the gene nightmare, however, “disease and suffering were the results of nature and malign human influence”: where uncontrolled births, prone to high probability susceptibility to disease may deny an individual from eligibility to state medical insurance; where education is limited to those with a minimum genetically defined IQ. A future where people may become preventively imprisoned for displaying criminal predisposition; where DNA differences may be used as an object to racism and discrimination. A reality where humans may be declared genetically unsuitable for reproduction (eugenics), and where ethnic weapons, targeting specific gene markers, may annihilate complete human populations. Even though many of these ideals and curses are unlikely to happen, scientists are aware of the social outcomes that genetic research may inspire. As a matter of fact, “race” has been found not to have a strong “scientific support”, since it reflects just a few continuous traits determined by a small fraction of our genes. Conversely, genome studies should foster compassion, not only because our gene pool is extremely mixed, but because in the understanding of the genotype’s correspondence to the phenotype is the demonstration that everyone carries at least some deleterious alleles3. [http://en.wikipedia.org/wiki/Nazism Nazism], however, is sufficient proof that mankind's stupidity.

Despite the huge amount of genetic data available to the general public, we strongly believe society lacks some crucial information about genes. Contemporary ideas suggest that we as individuals are product of our genes; however, this is not entirely true. Our genetic code indeed possesses the information necessary for every physiological process that we will carry on during our lifetime; nevertheless, society seems to be unaware of gene regulation and its explicit importance in defining an individual. In understanding that genes + environment = you, lies the life uncertainty that frees us from a definite destiny, highlighting the significance behind every decision we make.

The greatest impact of genetics on society I believe lies within the very concept of manipulation, and synthetic biology stands as one of the major steps forward into life manipulation and organism programmed design. History has driven us in a way where the human essence rises from nature and spirituality. However, we are unavoidably getting to a point where human reason may finally impose over the laws of nature: where the discrimination of what is good or evil, beautiful or ugly, the ethic and the aesthetic, and the significance of life itself lies in our very own hands. Genetics promises great power, probably the one of the greatest mankind will ever experience, and with power comes the responsibility of choosing wisely.

“With great power comes great responsibility” – Benjamin Parker ([http://en.wikipedia.org/wiki/Uncle_Ben Uncle Ben] from Spiderman)

References

1. Stubbe, H. History of genetics, from prehistoric times to the rediscovery of Mendel's laws (M.I.T. Press, 1972).
2. Oak Ridge National Laboratory. (2009).
3. Pääbo, S. The Human Genome and Our View of Ourselves. Science 291, 1219-1220 (2001).
4. Lippman, A. Prenatal genetic testing and screening: constructing needs and reinforcing inequities. American Journal of Law and Medicine 17, 15-50 (1991).
5. ten Have, H. Genetics and culture: the geneticization thesis. Medicine, Health Care and Philosophy 4, 295-304 (2001).
6. Dunn, L. & Dobzhansky, T. Heredity, Race, and Society (Pinguin Books, Inc., New York, 1946).
7. Gordijn, B. & Dekkers, W. Genetics and its impact on society, healthcare and medicine. Medicine, Health Care and Philosophy 9, 1-2 (2006).
8. Brand, A., Brand, H. & Schulte, T. The impact of genetics and genomics on public health. European Journal of Human Genetics 16, 5-13 (2008).
9. Little, P. Genetic Destinies (Oxford University Press, Oxford, 2002).