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Should We Have Autonomy over Our Genetic Information?

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Published: 8th Feb 2020 in Biology

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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).

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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 & Analysis


DNA Profiling

One application of genetic information and testing is DNA profiling in which the unique specific DNA sequence of a person is extracted and recorded by examining 10 or more genetic loci, which can be used to identify disaster victims, reveal family relations or identify a victim or perpetrator at a crime scene. DNA profiling is done by identifying short tandem repeats (STRs), which are portions of non-coding DNA that repeat the same sequence of nucleotides. These profiles are created by collecting a DNA sample, which is then extracted and copied using the polymerase chain reaction (the denaturing and annealing of a DNA and primer mix, using Taq Polymerase to join DNA nucleotides to a template and fluorescent tags in the primer to the STRs, allowing for their recognition (University of Waikota, 2007)[17]). Next, these tagged STRs are analysed and separated using gel electrophoresis to determine their sizes and hence, the number of repetitions of the nucleotides, allowing a unique profile to be created. (University of Waikota, 2007). 

Diagnostic Genetic Testing

Medical Genetic tests are classified into two categories, diagnostic genetic tests (which use biochemical, molecular and chromosomal DNA analysis to confirm or rule out a specific genetic disorder) and predictive testing (which uses DNA analysis techniques to identify genetic mutations or metabolic errors that could result in the development of a genetic condition later in life) (McPherson, 2006)[18].

Within predictive testing, there are different categories of tests that serve different purposes, broken down into presymptomatic testing, predispositional testing and newborn tests. In presymptomatic testing, a person is tested for a condition that usually develops at a later stage of life, with a positive test result indicating that the person will eventually develop the condition; however the point at time in which this condition will appear is unknown. (McPherson, 2006). Predispositional testing is very similar to presymptomatic testing but instead of concluding that a condition will definitely develop in a patient, predispositional testing indicates an increased risk of the development of a condition (such as Cancer), however, the degree of certainty cannot be known. (McPherson, 2006). Finally, newborn genetic tests, such as prenatal diagnostic testing and carrier testing, are carried out to inform couples about factors that influence reproductive decisions, such as the likelihood of a genetic condition being expressed in a child or any increased risks of developing hereditary conditions. (McPherson, 2006)

Genetic Counselling

Genetic Counselling (as developed in 1955 by Sheldon Reed in his book ‘Counselling in Medical Genetics’) (Possehl, 2018)[19] is when information about genetic aspects of a condition are shared to those who are at a high risk of developing/having a hereditary disorder or passing a condition on to offspring by a specially trained genetic councilor. This genetic councilor provides information about the inheritance of a specific genetic condition, the risks of recurrence and those associated with the condition and, answers any concerns of the patient/parents, their family and their healthcare providers whilst also supporting these families on how to deal with the condition by informing them about the options available for treatment/minimizing symptoms, thus allowing individuals to make informed decisions about matters concerning the genetic condition in question. (World Health Organisation, 2018)[20].


Human Genome Project

The Human Genome Project (HGP) is a project that was initially proposed in 1990, initially funded by the U.S Department of Energy, the National Human Genome Research Institute and the National Institutes of Health, with the aims to map out the 3 billion bases found within the human genome. This was done by first mapping the human genome using polymorphic markers then sequencing the genome, allowing for the identification of specific genes and their functions and interactions which in turn allowed for the identification of mutations and polymorphisms that affect the risk for disease (Leonard, 1999)[21]. Scientists mapped the Human Genome through the use of three methods; linkage maps (which allowed for the tracking of inherited traits through generations), maps that show the loci of genes on all major sections of all chromosomes and determining the sequence of bases in our DNA. This project was eventually finished in April 2003, producing a complete map of the human genome. (National Human Genome Research Institute, 2012)[22].

100,000 Genome Project

The 100,000 Genome Project is a genomics project, proposed in late 2012 by David Cameron and overseen by Genomics England (a company owned and solely funded by the Department of Health & Social Care),which is a development on the landmark Human Genome Project, which allowed for the application of genomics to NHS patients. The project sequenced and mapped 100,000 complete genomes from NHS patients with a unique focus on patients with rare diseases and cancers, including their family. The project itself has four aims; to create a transparent programme that is also ethical that is built upon consent from the patients, to benefit NHS patients by creating a national genomics medical service, to enable new scientific discoveries and to initiate the creation of a UK genomics industry (Genomics England, 2018)[23]. This project was finally completed on 5th December 2018 and as a result, one in four participants with a rare disease were finally given a diagnosis for the first time. (Walsh, 2018)[24]

Issues surrounding genetic confidentiality and information


In recent times, there have been many issues, both ethical and legal surrounding confidentiality of information. For example, one event that has shaped English Tort Law surrounding confidentiality and breaches of this is Attorney General v Observer Ltd [1990] in which a retired spy published his memories on his time in Australia and work there as a spy in a book called ‘Spycatcher’ (of which two extracts were published in the Sunday Times two days before the book’s publication). The UK Government responded to this by attempting to restrain the publication of this book due to its violation of the Officials Secrets Act 1911 and by suing the Sunday Times and other newspapers that reported on or published extracts of Spycatcher. The judges upheld the appeal of the Attorney General and found that the Sunday Times and other newspapers had breached their duty of confidentiality. (Swarb.co.uk, 2018)[25]. As a result of this significant case, this led to the conclusion that a duty of confidentiality arises when information is obtained/provided in confidence, information must be confidential, and not in public domain and this duty is not absolute and can be overturned if disclosure is in the public interest. (Cooney, 2018)[26]

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Another relevant court issue that has affected English laws on duty of care relating to confidentiality is ABC V St George’s Healthcare NHS Trust [2017]. In this case, the claimant’s father was incarcerated for the manslaughter of his wife and suspected to have Hutchinson’s Disease. The Father was then given a prognosis of Hutchinson’s Disease in August 2009 that the father requested be ‘kept confidential’ from the claimant and her sisters. Shortly after this, the claimant announced to her father that she was pregnant. In November 2009, a genetic test confirmed that the father had Hutchinson’s Disease, after which his care providers held a consultation with him to explore the possibility of informing his daughters of his positive diagnosis. The father responded by saying that he ‘does not want his daughters to know about it, especially the pregnant one until she gives birth some time in 2010’ as ‘he felt they might get upset, kill themselves, or have an abortion’. In April 2010, the claimant gave birth to a daughter and later in August that year, her father’s daughter was accidentally informed of her father’s diagnosis, resulting in the claimant seeking a genetic test that confirmed that she had Hutchinson’s Disease. The claimant alleges that she was owed a duty of care by the defendants due to the nature of the claimant as a single mother with an only child, hence claiming that if she had known the diagnosis whilst she was pregnant, she would have terminated the pregnancy to prevent the child from having a bad quality of life (due to Hutchinson’s) but also to prevent the child from ending up as an orphan (due to the degradation of the claimant as a result of the condition, a claim which the judges declared was arguable  (ABC V St George’s Healthcare NHS Trust, 2017)[27]. As a result of this trial, this led to the conclusion that the Defendants had a duty of care to third parties and that a person’s autonomy surrounding medical information can be trumped, in certain circumstances, if there is liable reason and in the interest of third parties.

Finally, recent scientific studies have found that although participants of genome projects (such as the 1000 Genome Project) have their identity protected through the use of a sample numbers rather than identifiers such as names, their identities can be extrapolated from genetic information data sets available in the public domain. This can be done by profiling and analyse STRs (Short Tandem Repeats) on the Y chromosomes from these data sets and consulting publically available genealogy databases that contain a participant’s genetic information, allowing for the identification of their surname. The combination of their surname with other publically available data such as age and state allows for the inference of the identity a participant of a genomic project. Due to the nature of the technique used, relying solely on free, online resources that can be accessed by all, this had led to controversy in which genomic projects and the public release of their findings/data sets could result in a breach in individual confidentiality despite attempts made to anonymise this information. (Melissa Gymrek, 2013)[28]


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[1] I have used this document as it is the original source, written by Mendel himself, the father of Modern Genetics. Therefore, it will accurately demonstrate his results.

[2] W.F.R Weldon received the Fellow of the Royal Society. As a result, this means his work would be a reliable source of knowledge.

[3] Bailey has a B.A in Biology and has been a biological editor since 1997, with textbooks such as Kaplan AP Biology referencing her work. Therefore, the wide scale use of her work for educational purposes means her work is likely to be a reliable source of knowledge.

[4] This source is relatively accurate as it is the original source in which Walter Fleming recorded his discoveries. However, as I was unable to find official English translations of this work online, I had to rely Google Translate. Therefore, this plus the complexity of Fleming’s language could affect the accuracy of how I interpret his findings.

[5] Sutton’s discoveries in the reference paper led to the development of the Boveri-Sutton Chromosome theory, which is still used and accepted today. This therefore, means this source is reliable.

[6] This source is reliable as it is written by F.Sanger, who discovered the Sanger Method itself. Therefore, this plus the fact that this source is the paper in which Sanger released his findings, means it is a reliable source of information.

[7] This source is reliable as it is a narrative account by I.R Lehman, one of the scientists who worked with Kornberg on his discovery of DNA polymerase. Therefore, due to his active role in the discovery, his source is a reliable source of information.

[8] This source is a leaflet published by Jackson Laboratory that details information on Genetic Tests. As Jackson Laboratory is a well-respected organisation in America, this means that the information contained in the source is likely to be very credible. However, the source itself lacks scientific detail that is present in scientific academia, therefore hindering the depth of information I can extract from the source.

[9] This website was published 3 days before I found the source. Therefore, the relevance of the source’s creation combined with the fact it is from the USA’s National Library of Medicine means it is a credible and useful source.

[10] The power point from which I got my information from is used to teach Medicine in an Iranian University and is written by Pooria Gill, who has a PhD in Nanobiotechnology. Therefore, due to her expertise and the educational usage of this source, the information from this power point is relevant.

[11] This source is written by many Doctors, notably Wilson H. Miller Jr and George Chong who both have PhDs. As a result of this high level of education, this means that their research is a reliable source of information

[12] ThermoFisher Scientific is a well-known biotechnological company in the USA that is well respected in the scientific community. As this information is on ThermoFisher’s official website, considering their credibility amongst scientists, this means the information provided is likely to be accurate.

[13] This source is useful due to the educational intent of the website eHow combined with the fact that the author is currently pursuing a Bachelor’s in Biology, providing an educational foundation for the information (that is not his own research), thus resulting in an accurate source.

[14] This source is the official Human Rights Act that is currently in enforcement in the UK and treated with the uppermost respect due to their nature of confirming individual rights. Therefore, due to the relevance of the act and the obedience to this by the nation, this means this statute is a reliable and useful source of information.

[15] This source is a document released by the General Medical Council which is responsible for overseeing medical professionals in the United Kingdom whilst regulating their responsibilities. Therefore, due to the authority of this council relating to Medicine, this document released by them is likely to be an accurate source of information.

[16] This source was produced by a branch of the U.S. Department of Health & Human Service, which is a branch of the U.S. Federal Government. Therefore due to the authority and credibility of the U.S. Government, this means this source is a reliable source of information.

[17] This source was produced for an educational purpose by the University of Waikato. Therefore, due to the prestige of this university, being in the top 1.1% of universities worldwide, this results in the source being reliable and trustworthy.

[18] This source is a valid source of information as it is from the Clinical Medicine & Research journal and is written by a qualified doctor. Therefore, due to the educational context of the author (Elizabeth McPherson MD) and the fact that this article has been peer reviewed, this means that this source is very reliable for information.

[19] This source is from the Embryo Project Encyclopedia. Therefore, due to the education purpose of the Encyclopedia by recalling factual events, this means the information provided about Sheldon Reed is likely to be very accurate.

[20] This source is from the World Health Organisation, a specialised agency of the United Nations. Therefore, due to the authority and reputable nature of the WHO, it is a useful and reliable source of information.

[21] This source was written by Debra G.B Leonard, who has a PhD in Pathology. Therefore, due to her education background and the fact that her paper was published in a leading peer-reviewed clinical journal, this means her work is a reliable source of information.

[22] This website was written and produced by the National Human Genome Research Institute, a leading organisation in the area of human genetics. Therefore, due to their prevalence and reputation within the science community, they are a reliable source of information.

[23] This website was written and produced by Genomics England, which is owned by a specialised branch of the UK Government. Therefore due to the authority and credibility of the U.K. Government, this means this website is a reliable source of information.

[24] This article was produced by a medical correspondent of BBC News. Therefore, due to his speciality in scientific and medical fields plus the credibility of BBC news as a major news provider in the UK, this article is likely to be a reliable source of information.

[25] Swarb.co.uk website is a UK database of important and relevant legal cases that have impacted UK laws. As a result of their expansive collection of cases, they are likely to be a reliable source of legal knowledge.

[26] This PowerPoint is a resource created by Dr Enya Cooney, who has a degree in Medicine and Medical Ethics and Law. Therefore, due to her education in the medical field, specifically on legal and ethical matters, this means her resources are likely to be a reliable source of information.

[27] This case report is the official report of the case. Therefore, due to the formality of this document and its function as the primary source of information about this case, it is a very reliable source of information about this case.

[28] This peer-reviewed source is produced by the American Association for the Advancement of Science, the world’s largest multidisciplinary scientific society. Therefore, due to the peer- reviewed nature of nature of the journal and the precedence of the American Association for the Advancement of Science within the scientific community, this article is likely to be a very reliable source of information.


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