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Scientific and Ethical Aspects of Human DNA Databases

2537 words (10 pages) Essay in Sciences

08/02/20 Sciences Reference this

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What is DNA?

One of the most important biological molecules an organism possesses is one that carries information. These information carriers are not only vital for the synthesis of further biological molecules (proteins) which contribute to the function of the organism but also the transfer of information from generation to generation. Without this, the natural evolutionary process of a species would cease leading to possible extinction. DNA and RNA, the universal genetic code for all living organisms acts as this cellular language and exists as bases or nucleotides. A simple biological molecule consisting of a deoxyribose sugar (present in DNA) bonded with a phosphate group and a nitrogenous base. These bases fall into two further categories: the pyrimidines; consisting of cytosine, thymine and uracil (Uracil being present in RNA) and the purines; adenine and guanine. These monomers then polymerise to form the DNA double helix; essentially the cells’ entire instructions for proper function.

The importance of DNA within an organism is especially clear when there is a fault present. Faults arise as a result of a mutation, where bases alter their order or are deleted/added entirely to a base sequence. These form frameshift or nonsense mutations and in turn alters the translation of base sequence to polypeptide chain. This will likely inhibit protein function causing the resulting metabolic pathway to be non-functioning. Mutations are essential in ensuring that both phenotypic and genotypic variation is continued to the next generation- however in many organisms; mutations could have detrimental consequences. (1)

What are DNA databases?

DNA databases are slowly but surely becoming common within both a forensic and medical setting. With the public having more of an interest in their own genetic make-up, DNA databases, which are shared databases containing the entirety of a person’s genome, are growing exponentially. They present a wide range of uses and are thought to have been one of the greatest impacts in forensic science. (1)  Whilst this may seem like an incredible step forward in the scientific world, it has appealing sides including genetic discrimination and the possible security risks attached to having your personal information stored. 

DNA databases and their positive impact in medical diagnosis.

 A very important aspect DNA databases have, are their uses in the improvement of understanding of various genetic diseases. Duchenne Muscular Dystrophy is a genetic condition that causes the degeneration of muscle tissue due to a lack of dystrophin. A fault present on the dystrophin gene on the short arm of the X chromosome means that dystrophin cannot be produced. A lack of this protein causes an excess of Ca ions to permeate the sarcolemma (2) and subsequent cascade of stress induced reactions follow, leading ultimately to cell death. This condition was first observed by Guillaume Benjamin Amand Duchenne in the 1860s however real research was started in the 1980s. (3) Due to the condition being hereditary and sex linked, mothers could be screened for the presence of the faulty gene against the DNA database. This would enable parents to have a more informed decision when family planning, to avoid unnecessary pregnancy termination or to plan for necessary child care down the line.

 The implementation of a shared DNA database is necessary for the acceleration of medical research. In 2012 the cost to encode a person’s full genome was £650, now in 2018 the price has undoubtedly gone down. This has encouraged scientists to greatly explore the possibilities of gene sequencing. With almost a surplus of genetic information available, this could be essential for the uncovering of genetic diseases. It also enables pharmaceutical companies to have more genetic information and therefore drug production could be more efficient. The Global Alliance have undertaken the task of collecting all the anonymised genetic information and storing them in DNA databases. These are not open to the public so reduced risk of data breaches or genetic discrimination. (4)

 Propositions were even approved for there to be an entire DNA databank for people under the NHS. These, put forward by the Human Genomics Strategy Group, says that everyone in the NHS should have their genes sequenced. This has a multitude of benefits including the testing of pregnant women’s blood for trisomy risk. (5) (6)

Again, this would greatly increase the rate at which medical advances were made, so would have a greater impact on the diagnosis and prognosis of genetic diseases.

DNA databases and their contribution to forensic science.

One of the biggest impacts DNA Databases have had is that on forensic science. On October 13th 1998, the FBI began its nationwide DNA database and as of April 2017, this DNA database has aided in around 358,069 investigation. The evidence acquired by the DNA database has aided in clearing the name of 350 individuals – some of which were on death row. Similarly, the DNA database meant that the perpetrators of crimes were correctly identified. In most cases these people had gone on to commit other sexual offences/murders. (7) (8) (9)

DNA databases can also make links between groups of people through unsolved cases. More often than not criminals do not remain in one geographic area as the police force do, so a DNA database (like that used by the FBI) would be able to locate someone who had done a crime in one state even though they are at present living in a completely different one. This greatly reduces the chance of unsolved crime cases from lingering on, and would offer some closure to the affected parties.

It is clear that DNA databases are instrumental to modern day forensics however they do have some limitations.

Possible discrimination with the use of DNA databases

 Also could reduce racial stereotyping, already a significantly larger proportion of male POC are being arrested within the united states, using DNA databases could eradicate any bias as police teams would be basing suspects purely on DNA evidence.

 

DNA sequences and privacy

Issue of privacy is one that frequently crops up when arguing the case for DNA sequencing and databases and lot of the time they can be disproved.  In some databases, such as the 13 CODIS core, scientists make use of the STR loci which are non-coding regions of human genome. (1) They have no link with the genetic “health” of a person so means that the data stored on a DNA database is only relevant for matching DNA to person and cannot be used against them.

Secondly data stored on the US DNA Database does not link a person’s characterizing data with their DNA- only the source of the DNA, e.g. Palm Beach County Crime Laboratory. Only the individuals who analysed and submitted the DNA to the national DNA database would have access to the person’s personal details.

Ethical negatives of human DNA databases in crimes

If a human DNA database was to be established that included samples of individuals who had not committed any prior crimes, it could be argued that rather than more cases being solved, there would be a greater chance of incorrect accusations of innocent people. Not only this, but these wrongly accused individuals would have their DNA profile stored permanently, (some even occupying a criminal record for life) which is evidently ethically unjust. ‘S and Marper V United Kingdom’ (2008) is a case that illustrates this. S was arrested at 11 years of age for attempted theft of a bike and Marper was charged with harassment, but both were later acquitted.(10) Their DNA profiles remained on the national DNA database and many years later it was decided that their samples could not be destroyed but anonymised. This highlights how unreasonable the system could become if children who commit petty crimes have their lifelong record tarnished, because of their DNA being on a national system.

Although, in some cases such as in 2003 when Michael Little suffered fatal injuries and his perpetrator “was the first person in the world to be convicted following identification through a familial search of a DNA database”(11),  this is not always the case. This is due to the fact that, with a wider DNA database, if authorities are unable to locate a DNA match in a crime they may turn to looking at partial DNA matches in familial searching. This method creates a suspect without a direct cold hit being located.(12) This in turn could lead to the disastrous situation of the perpetrator’s innocent close relatives such as siblings being falsely accused for a crime. In actual fact, there is insufficient evidence to show that if the national DNA database had samples from those who had never been convicted of any crimes that more crimes could be solved.10

Costs of expanding human DNA databases

The financial viability of obtaining a human DNA database can be argued to be impractical as it is extremely expensive. Not only would taxpayers be forced to pay for a database which not all of them would agree with but, with the growing global population, including DNA profiles from everyone of each country would be very difficult. In addition to this, maintaining a human DNA database such as paying for high quality facilities and equipment, as well as fully trained staff costs large sums of money. Without secure financial investors, this is not a viable option.

 

Scientific errors in human DNA Databases

Errors in DNA sequencing are not uncommon, and DNA is susceptible to this in public human databases. For example, whilst studying fungi groups of Phoma, Amanita and Helotiales, researchers used bioinformatic search tools for sequencing and found many clear mistaken identities in each group of fungi.(13) Although much of these errors could have been due to unexplained anomalies, many were caused by human errors such as mislabelling or misidentification. Similarly, in humans, this presents the idea that without high standards of laboratory practices and responsible staff, cross-contamination and poor handling could potentially jeopardise an impeccable DNA database. This also implies that the scientific debate links to the ethical aspects as a flawed DNA database could lead to a greater chance for forensic tests on suspected criminals giving false results thus not helping more criminals get caught.

 

Privacy of individuals on a human DNA database

Establishing a universal DNA database is controversial as it invades every individual’s privacy. It would mean a person’s appearance, health conditions and any genetics diseases, would be on record exposed to any types of research or testing. By losing control of their personal data, it could essentially be accessed by anyone. For example, inherited conditions would be a key target for discrimination by employers or insurance companies. In a study undertaken in the USA “a total of 205 genetic professionals reported that at least one patient or family member had been refused employment or life insurance on the basis of carrier status or genetic predisposition”(14).Genetic discrimination is already apparent without a national DNA database. The potential prevalence of it with a widespread DNA database could be detrimental to the lives of those with inherited health issues. For example, those with life shortening diseases like Huntington disease would be unfairly refused life insurance.

Expanding the national DNA database reiterates the fact that every person’s DNA profiles could essentially be accessed by anyone. Even with laws implementing privacy protection, no one could ever be certain as to whether the DNA database would be vulnerable to cyber-attacks or hacking or even misused by the police, government or criminals. This could lead to framing innocent people or further discrimination against minority groups as it would be much simpler to pinpoint people from certain racial groups. There is also a central concern that DNA database could be used for lifelong ‘genetic surveillance’(9). This means that people fear that their autonomy would be compromised, and they could be seen as a ‘suspect’ before they had even committed a crime, which is clearly unfair.

Would a human DNA database be scientifically and ethically beneficial for society?

Overall, there are evidently many benefits to establishing a human DNA database such as obtaining greater scientific knowledge about genetic diseases like Duchenne Muscular Dystrophy, positive contributions to forensic science and advancements in medical research. On the other hand, it would be a greatly expensive process, it could lead to more false accusations of innocent people and could affect the lives of many if insurers discriminate against those with genetic diseases. In conclusion, all the scientific and ethical pros and cons that need to be weighed to ultimately decide if a national DNA database is both suitable and practical to maintain.

References

(1) Genetics Analysis and Principles, Robert J Brooker, 5th Edition (2012)

(2) Duchenne Muscular Dystrophy: Pathophysiological Implications of Mitochondrial Calcium Signalling and ROS Production. Bern University.  May 2012

(3)  Muscular Dystrophy Assosciation

(4) Guardian August 2016

(5) Guardian January  2012

(6) (Report published January 2012 https://www.gov.uk/government/news/report-highlights-benefits-of-genomic-innovation)

(7) Federal Bureau of Investigation, CODIS – NDIS Statisticshttps://www.fbi.gov/services/laboratory/biometric-analysis/codis/ndis-statistics

(8) Innocence Project, DNA Exonerations in the United States, https://www.innocenceproject.org/dna-exonerations-in-the-united-states/ (2017)

(9) Universal DNA databases: a way to improve privacy? Journal of Law and the Biosciences, 2018 Volume 4, Issue 3, 1 December 2017, pages 637-647

(10) Marcus Smith, Universal forensic DNA databases: Balancing the costs and benefits, 2018, Vol.43(2) Pg 132

(11) Sheldon krimsky and Tania Simoncelli, Genetic Justice DNA Data Banks, Criminal Investigations and Civil Liberties, 2011, Columbia University Press, chapter 4, Pg 64

(12) Sheldon krimsky and Tania Simoncelli, Genetic Justice DNA Data Banks, Criminal Investigations and Civil Liberties, 2011, Columbia University Press, chapter 4, Pg 65

(13) Rytas Vilgalys, Taxonomic Misidentification in Public DNA Databases, The New Pytologist, Oct 2003, Vol.160, No.1, Pg 4-5

)14) Populations and genetics: legal and socio-ethical perspectives, Bartha Maria Knoppers, Martinus Nijhoff Publishers, 2003, Brill Academic Publishers, Pg 608

 

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