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Should We Have Autonomy over Our Genetic Information?

Should we have autonomy over our Genetic Information?
History of Genetics and Genetic Testing

Genetics is, as defined by the Merriam-Webster dictionary, a branch of biology that deals with the heredity and variation of organisms’ but also ‘the genetic makeup and phenomena of an organism, type, group, or condition’ (Merriam-Webster, 2018).
Darwin’s theory of Pangenesis
This vital branch of science was developed initially by Darwin in 1868, suggesting that cells grew as a result of division but also by giving off small particles (gemmules) from specific organs that could reproduce by themselves, possessing hereditary information about the specific organ from which it originated. These gemmules would then collect in the sex organs and inheritance onto offspring was determined on the quantity of these specific gemmules in relation to others, with dominant traits being inherited due to a larger quantity of a specific gemmule present in the sex organs. (Y-S. Liu, 2009)
Mendel’s theory of dominant and recessive ‘units’
In 1865, Gregor Mendel, a German Augustinian monk, wrote a revolutionary paper named ‘Versuche über Plflanzenhybriden’ or ‘Experiments in plant hybridisation’ in which Mendel conducted experiments on peas, analysing trends in shoot height, if these peas were wrinkly or smooth, seed colour etc. through breeding these peas for many generations to determine trends in the inheritance of these traits (Mendel, 1866)[1]. As a result, he formulated 3 laws which came to be known as Mendel’s Laws of Inheritance. The first law is called the Law of Dominance states that if two peas of contrasting pure races were bred together, the hybrid offspring will only show the dominant traits of the two parent peas that are almost identical to those of the parents. These recessive traits will either not be present in this hybrid pea or their presence will be minimal and therefore, may not be detected or noticeable (Weldon, 1902)[2]. The second law is called the Law of Segregation and suggests that offspring receive one factor from each parent for each trait, either the dominant or recessive form of this factor. Therefore, if the first hybrid generation from pure-bred parents are allowed to fertilise themselves, these factors will be present in the offspring in equal frequencies. However, the combination of how these factors will be present in the offspring obeys the Law of Dominance (Weldon, 1902). Finally, Mendel’s third law is known as the Law of Independent Assortment which states that the transmission of one trait from parents to an offspring would not affect the transmission of another different trait to the offspring (Bailey, 2018)[3].

Linking Chromosomes to Hereditary
In 1878, Walter Fleming did research into the intercellular structure of the nucleus by applying Aniline (C6H5NH2) dyes to cells from Salamander embryos (Cold Spring Harbour Laboratory, 2011). He found that in the nucleus existed a structure that readily absorbed the dye, allowing it to be visible under a microscope. Following his observations, Fleming deduced that the nucleus consists of a network of chromatic acid strands that are irregularly branched stored inside the nucleolus (Fleming, Zur Kenntniss der Zelle Und ihrer Theilungs-Erscheinungen, 1878)[4], determining that these strands of chromatic acid are the ‘shrunken state of the living core network’ (Fleming, Zur Kenntniss der Zelle und ihrer Theilungs-Erscheinungen, 1878).
This discovery of the Chromosome by Fleming allowed the establishment of a link between Genetics and Hereditary, discovered in 1902 by Walter Sutton by studying grasshopper chromosomes, leading to his conclusion that chromosomes have individuality, they appear in pairs, with one from each parent, and these pairs separate during Meiosis (Sutton, On the morphology of the Chromosome Group in the Brachystola Magna, 1902)[5] (a conclusion that is very similar to that of Mendel, that led to the creation of the Law of Segregation). As a result of this conclusion, Sutton noted that his evidence and conclusions strongly suggests a link between chromosomes and the physical basis of Mendel’s Laws of Inheritance. (Sutton, On the morphology of the Chromosome Group in the Brachystola Magna, 1902)
Discovery of DNA polymerase
In 1956, Arthur Kornberg and his team of scientists discovered DNA polymerase, the key enzyme used in processes as the Sanger/Chain Termination method (F. Sanger, 1977)[6] that forms the foundation of modern Genetic tests. This was discovered by adding 14C- Thymidine to a sample of DNA from E.coli, producing a radioactive form of DNA that was purified by adding streptomycin sulphate to the sample, thus creating a precipitate that contained nucleic acid and the DNA polymerase.[7]
Current Methods of Genetic Analysis
Molecular Genetic Testing
Molecular genetic testing is the application of molecular biology to analyse the proteins present in DNA, any mutations present and how these proteins affect the gene’s function. One technique is Whole Exome Sequencing, which uses next-generation sequencing methods to sequence all the genes of a person simultaneously. The specific order of these DNA bases are analysed and recorded then compared to a reference sequence (often that of a family member). Despite providing a comprehensive image of the genome, it is a slow, costly process that requires DNA samples from multiple family members whilst not covering 100% of the Genome due to current limitations in methods of genetic analysis. (The Jackson Laboratory, 2018)[8].
Another method, single gene sequencing, uses the same method as that for Whole Exome Sequencing but is only applied to a specific section of a gene or the gene as an entirety rather than the genome as a whole. Despite providing a detailed image of the gene and being faster and cheaper than other testing methods, it does not detect large mutations/defections nor polygenic hereditary conditions. (The Jackson Laboratory, 2018).
Figure 1 – Detects single changes to DNA Bases (The Jackson Laboratory, 2018)
Biochemical Genetic Testing
Biochemical Genetic Testing is the use of chemicals to study and analyse mutations in enzymes and proteins that result in abnormal protein activity levels, indicating mutations in non-coding portions of DNA. (U.S. National Library of Medicine, 2018)[9]. One method of biochemical testing is DHPCL (Denaturing High performance liquid chromatography) which analyses the retention factor of homoduplexes (double helixes with complimentary base pairs) and heteroduplexes (double helixes with non-complimentary base pairs) formed by breaking apart DNA into single helixes then reforming the double helix using heat (Gill, 2018)[10]. Despite being very accurate with its results, DHPCL is very time-consuming and requires large specimens (Victor Cohen, 2006)[11]. Another technique is the use of Gel Electrophoresis by putting DNA samples into a gel medium which is subjected to an electric field, separating the DNA fragments by size, with the smallest fragments travelling furthest (ThermoFisher Scientifc, 2018)[12]. This method is cheap, using a simple method, allowing for universal use and application however, there is a chance of the sample melting due to the current passed through the gel, affecting the accuracy of the results (Youngker, 2017)[13]
Chromosomal Genetic Testing
Chromosomal Genetic Testing is the analysis of whole chromosomes or long strands of DNA to identify large mutations that result in genetic conditions (U.S. National Library of Medicine, 2018). One method of such is karyotype testing which captures chromosomes during metaphase, staining specific regions of the chromosome called bands. Although this technique enables the identification of abnormalities relating to chromosome location and structure, this method cannot identify small abnormalities or single gene conditions. (The Jackson Laboratory, 2018). Another method is Fluorescent In Situ Hybridization (FISH) which uses metaphase chromosomes (like Karyotype testing) but instead uses probes with fluorescent markers to attach to known genes or important regions on the chromosome. Despite being very limited in its analysis by omitting structural information about the chromosome, it is much more precise in its analysis than Karyotype testing, allowing it to identify smaller variants (The Jackson Laboratory, 2018)
Legislation Surrounding Confidentiality and Medical Autonomy

Article 8 of the Human Rights Act states that ‘Everyone has a right to respect for his family life, his home and his correspondence’ (UK Government, 1998)[14] As a result, this means that every person has a right to privacy for all personal matters in their life, including matters of results for genetic tests. As a result, this gives all people genetic autonomy. However, section II of this article states that there can be inference by public authorities if it is for ‘national security, public safety, prevention of crime, protection of health or morals or for the protection of the rights and freedoms of others’ (UK Government, 1998). Therefore, this section allows for specific circumstances in which confidentiality and genetic autonomy can be overridden. Article 1 of the First Protocol (Part II) of the Human Rights Act 1998 states that ‘Every natural or legal person is entitled to the peaceful enjoyment of his possessions’ (UK Government, 1998). Therefore, as a result of this Article, the right of a person over what belongs to them (their genetic information for example) is reaffirmed, thus concreting the right of autonomy for all people.
Regulations and instructions on the handling of medical information specifically is elaborated on, clarified and moderated by the General Medical Council. Under these regulations, Doctors should use only minimal necessary personal information, ensure that medical information is protected at all times, ensure that their actions are complying with the law, share necessary information required for direct care (unless there is direct objection from the patient), tell patients when personal information that they would not reasonably expect is being disclosed and that dialogues of these conversations and their outcomes are recorded, directly ask patients for consent regarding decisions involving their personal information and support patients if they wish to access their medical information or exercise their legal right regarding this information (General Medical Council, 2017)[15].
In the wider world, medical information is also regarded as highly personal and valued, needing specific legislation to ensure matters using and surrounding this information are handled correctly. For example, in the USA, The Privacy Rule under the HIPAA Act gives patients more control over their medical information, setting boundaries and restrictions that regulates how health records are used and who can access these. Relating to providers of health care providers, the act establishes benchmarks that these organisations nee to achieve to ensure protection of medical data whilst holding those accountable with both criminal and civil penalties and punishments if they violate the privacy rights of the individual (Office of the Assitant Secretary for planning and evaluation (ASPE), 2001) [16].
Modern Applications of Genetic Information

How The Understanding of Sex Determination in Fish can Help Improve the Control of Phenotypic Sex in Aquaculture

How The Understanding of Sex Determination in Fish can Help Improve the Control of Phenotypic Sex in Aquaculture
Introduction Sex determination or control is a very important and highly targeted area of aquaculture research; due to its influences on productivity, husbandry management and economics. The ability to control sexual differentiation, reproduction and maturation, gives aquatic farmers, the control over breeding processes, both in hatcheries and throughout the grow-out period. It could be argued that in aquaculture species, which have become global merchandise, primary facilitators of their largescale industrial production, can be attributed to the control over sex and reproduction. However, in some species, where production is yet to reach industrial scale, the definition of sex differentiation and improved dependability of reproduction remains an important area of applied research (Budd et al., 2015).The need for sex control in aquaculture is evidently expressed in the desire to achieve several broad goals in the industry including: prevention of uncontrolled reproduction and precocious maturation e.g. in tilapia; the desire for monosex population as a result of sexual growth dimorphism and economic value of the sexes; to reduce the impact of phenotypic sex on product quality, as in the production of Atlantic salmon and oysters; increase the stability of mating systems in species such as groupers; and prevention of the negative impacts which result from the unintentional introduction (escapees) of genetically improved strains or non-indigenous species to the culture environment. The culture system and reproductive biology of the species concerned, has a great influence on the relative importance of each goal mentioned above.
Precocious maturation materializes in several cultured species such as: the Nile tilapia Oreochromis niloticus, (Nash and Novotny, 1995); freshwater crayfish, Cherax destructor, (Lawrence et al., 2007); and Atlantic salmon, Salmo salar; all of which have the tendency to attain sexual maturation and reproduce before reaching the suitable size for harvest. Sexual maturation impairs growth, as energy is diverted to reproduction, creates variances in size at harvest, and results in overpopulation of the culture system; which in turn creates an inability to control feeding rates and animal density. In addition, deterioration in flesh quality, as commonly observed in female Atlantic salmon, is as a result of sexual maturity being attained through the diversion of energy, like lipids, towards reproductive processes, thereby, resulting in differences in economic values between sexes (Piferrer et al., 2009). In culture species like the Nile tilapia, sex specific growth rate provokes the desire for monosex culture as males grow faster with lower food conversion ratios than females (Al-Hafedh and Alam, 2007). Also, female kuruma prawns (Penaeus japonicus) tend to be larger in size at harvest, than males (Coman et al., 2008). As a result, aquatic farmers have adopted several approaches to produce monosex populations for culture, both manually by hand sexing or selective removal, and/or the use of technologies like: exogenous hormones treatment e.g. 17-estradiol in Atlantic cod, Gadus morhua, (Lin, Benfey and Martin-Robichaud, 2012), or 17 ⍺-methyltestosterone in Nile tilapia, Oreochromis niloticus, (Kwon et al., 2000); chromosome ploidy manipulation in rainbow trout, Oncorhynchus mykiss; hybridization between, Oreochromis aurea and Oreochromis niloticus; environment manipulation i.e. manipulation of social factors in orange-spotted grouper, Epinnephelus coiodes, for the production of male broodstock(Liu and Sadovy de Mitcheson, 2010) or temperature treatment during gonadal differentiation in European sea bass, Dicentrarchus labrax, (Navarro-Martín et al., 2011); and the use of maker assisted selection e.g. in the production of monosex populations in Turbot, Scophthalmus maximus, (Martínez et al., 2009). In hatcheries, sex control is also important for the production of seedstock, particularly if the aim is to produce specific family combinations for selective breeding (Budd et al., 2015).
Sex Determination and Differentiation in Fish Evolutionarily, sex determination and differentiation in fish, is a very diverse and highly plastic developmental mechanism (Kobayashi, Nagahama and Nakamura, 2013). Such diversity makes it challenging when trying to cultivate a general understanding of sex in fish. However, at the individual or species level, profound plasticity of sexual phenotype, can present increased opportunity for sex control, which is very important for cultured fish. Sex determination can be described as the mechanism, genetic or environmental cues, which ultimately controls the sex of an individual (Devlin and Nagahama, 2002). For example, inheritance of the Y chromosome in mammals, determines that an individual will develop as male. This type of sex determining mechanism, is referred to as genotypic sex determination (GSD), where sex is determined at conception, and there is the expectation of genetic differences between sexes. However, during embryonic development in reptiles, the temperature experienced, rather than genetics factors, provides the cue for sex determination, a sex determining mechanism referred to as environmental sex determination (ESD), where there are inconsistences in the genetic differences between sexes and sex is determined after fertilization, in response to environmental cues. However, sex differentiation refers to the physical materialization resulting from sex determining cues. It largely pertains to the transformation of an undifferentiated primordium into testicular or ovarian tissues, which follows on from a sex determining cue (Devlin and Nagahama, 2002). In some cases, there is a partial overlap between the processes of sex determination and gonadal differentiation, resulting in the terms being used interchangeably (Penman and Piferrer, 2008; Heule, Salzburger and Bohne, 2014).
Techniques Used to Manipulate Sex in Aquaculture Given the immense variability and complexity of sex determining mechanisms in fish, no single approach has been proven effective for sex manipulation in all cultured fish species. Rather, as mentioned above, several major approaches including:
Utilisation of Exogenous Hormones to Control Sex

Due to the ease of application, on a commercial scale, and its consistency in producing monosex population, administration of exogenous hormones to control sex, is considered as the most frequently used and reliable technique of all the external factors know to control sexual development in fish. Sex steroids, steroid hormones known to interact with androgen and oestrogen receptors, are critically important to the natural processes of phenotypic sex determination, therefore, providing the basis for utilisation of exogenous sex steroids to manipulate sex ratios in cultured fish. This technique was first successfully demonstrated in medaka, Oryzias latipes, were androgen and oestrogens were administered to sexually undifferentiated fish, resulting in functional males and females respectively (Yamamoto, 1953