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Widespread Genome Sequencing Promises and Downsides

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As we rapidly progress through the new millennium genetics comes down from pages of since-fiction novels into our lives. What we thought was not possible only 30 years ago now can be done in a matter of days. I am obviously talking about genome sequencing. But let’s not get ahead of ourselves and start from the beginning.

The History of Genome Sequencing

DNA was first isolated by Swiss physician Friedrich Miescher in 1869 when he discovered a microscopic material on the waste bandages. In 1878 German biochemist Albrecht Kossel isolated five primary nucleic bases or what he called “non-protein component of nuclein”. Later, in 1909 American biochemist Phoebus Levene discovered the chemical components of RNA to be sugar, base and phosphate nucleotide. He then went on to identify sugar in DNA to be deoxyribose in 1929 and suggested that DNA was a short, consequently repeating strings of nucleotides linked together via phosphate groups. First suggestion that inherited traits came from DNA and that DNA uses semi-conservative replication came from Russian biologist and a pioneer of modern genetics Nikolai Koltsov in 1927. Frist to prove that DNA carries the genetic information however was Frederick Griffith in 1928 when he proposed an experiment where one form of bacteria was transformed into the second form of bacteria by simply mixing dead cells of the first one with the living cells of the second one. 15 years after Griffith experiment in 1943 Oswald Avery, Colin MacLeod and Maclyn McCarty have carried out similar experiment to arrive to similar conclusion. Finally, in 1952 Alfred Hershey and Marthna Chase had confirmed that DNA indeed carries genetic material. At that time, it was believed that RNA was only found in plant cells where as DNA was found only in animal cells, but in 1933 while studying virgin sea urchin eggs Jean Brachet suggested that DNA was found in nucleus and RNA in present exclusively in cytoplasm of all cells. First X-ray image of DNA was taken by William Astbury in 1937, this image showed that DNA had a regular structure. You probably wouldn’t know all these names, but their work was essential for two scientists who in 1953 suggested what now is accepted to be the first correct double-helix model of DNA. Obviously, I am talking about Francis Crick and James Watson who worked together in Cavendish Laboratory in Cambridge University for two long years before coming up with this ingenious idea for DNA structure. Here I must also mention Rosalind Franklin and Raymond Gosling who used X-ray diffraction to capture an image of DNA, without their work it would take much longer for Watson and Crick to make their discovery. Later, in 1957 Crick presented the central dogma of molecular biology, which essentially predicted relationship between DNA, RNA and proteins.

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After the big discovery genome sequencing was just the matter of time and technology. Although first attempts were made only using organisms with very short DNA sequence in 1990 US government (nearly 40 year after the big discovery by Watson and Crick) launched the Human Genome Project (HGP). The aim of this project was to determine the sequence of nucleotide bases that make up the human DNA. Just over decade later on April 14, 2003 National Institutes of Health announced to the world that HGP was complete. Just to let know that now you can sequence you whole genome in a day and it will cost you a 1000$, when back in 1990 it took 13 years and cost US government $2.7 billion. As you can clearly see from these numbers consumption of both time and money have dropped dramatically since human genome was first sequenced. The reason for this change being next generation sequencing (NGS) or High-throughput methods. NGS are methods of sequencing DNA that came after initial methods of sequencing and enabled sequencing of DNA on a large scale with much smaller time and money consumption. There are multiple methods that are included in NGS, but not all of them may be used in mass genome sequencing. The first NGS technology was massive parallel signature sequencing (MPSS) that was developed in 1990, but it was so complex no laboratory would use it. First applicable NGS technology was preformed to sequence genome of E. coli in 2005. This was Polony sequencing, it provided >99.9999% accuracy and cost only 1/9 of the previous methods. There were some methods that couldn’t withstand the marked and were discarded as being non-competitive like 454 pyrosequencing. There are other methods: Illumina (Solexa) sequencing, combinatorial probe anchor synthesis (cPAS), SOLiD sequencing, Ion Torrent semiconductor sequencing, DNA nanoball sequencing, Heliscope single molecule sequencing, single molecule real time (SMRT) sequencing and Nanopore DNA sequencing. Also, there are multiple methods being developed as I write this sentence, some examples of them are tunnelling currents DAN sequencing, Sequencing with mass spectrometry ect.

The Problems of Genome Sequencing

With all these new methods we are practically entering the age of genetics where every human will have their genome sequenced when they are borne and were medicine will become dependent on genetics more and more every year. Today medical professionals treat diseases after the fact but as we move on to the era of genetic medical profiling, they are going to be preventing diseases that the person is most likely to get rather then waiting for these diseases to strike. Just to clarify, genome sequencing and further analysis will allow us to identify diseases that the person is most likely to get throughout his life. With further advances in this field people are going to live longer and better than they have ever lived before. Ethically speaking this is a clear advantage of a widespread genome sequencing. Although some people might be against this kind of information being shared between doctors or even collected from them in the first place. There might be all kinds of legal issues associated with using genome sequencing in medical establishments e.g. some/any religion might prohibit the use of genome sequencing to be used for medical purposes, if all hospitals are going to be working using new preventive therapies that require genetic sequencing some people might think that they are being forced to give up their genetic information to be treated, also some people might think that medical staff will develop some sort of prejudice against people how have particular traits in their genetic code (i.e. race, heritage ect.). I can’t see any drawbacks from having genetic sequencing in medical establishments except for decrease in personnel in other medical fields. As preventive medicine will take hold and become more and more popular larger number of medical students will be drawn to it and thus decreasing number of medical professionals in other fields. Its may be an issue as not all diseases can be prevented, some of them (mostly once that are introduced to the organism via foreign agent) can only be treated only after one gets the disease(Foster and Sharp, 2006). Regardless of advantages that genome sequencing will bring us there are multiple ethical issues associated with it. Inform consent is the first issue with any genetics-related tests/methods but widespread genetic sequence may take this issue to another level. First, people who are undergoing genetics sequencing must properly understand what they are signing up to, but due to the complicity of the subject it is rather difficult for scientists to properly explain to an ordinary person what is going on. Also, due to the nature of genetic sequencing scientists do not know the exact information they might get out of these tests, so people will often get the information they never wanted to know. Some people who undergo genetic sequencing might get their hopes up because they will misinterpret information they receive from the scientist taking the consent and think that after the testing they will know absolutely everything there is to know about them. This might cause some legal friction when experiment is done. In addition, genetic sequencing requires equipment for processing very large quantities of data for every person undergoing the procedure, this comes with some risks, one of them being the loss of private information due to computer/human error.

This creates a big problem as no one would want their private genetic information to be disclosed to the public. Secondly, there is an issue with returning results to the patients. Data produced by whole genome sequencing is huge and returning it all to the subject might not be efficient or even logical as most of it doesn’t hold any clinically or otherwise related information. Next question we must ask is who will determine the exact amount of information that participants will get after all tests are done? This question poses a serious ethical issue to be discussed further in my essay. Thirdly, some information produced after all tests are done may hold very important information that is relevant to relatives of the subject (e.g. genetic disease that runs in the family). If such information is present in the results should relatives be informed without subject’s consent or should relatives be left in blissed ignorance? Fourthly, if information obtained during the genetic sequencing reviled to be very unusual and present a very big interest for research will previously signed consent be enough to allow scientists to study it or consent will have to be re-signed? It will be next to impossible to anticipate what kind of unusual information may be found in genetic material of one person, so it is next to impossible to create a consent form that will cover everything, that said it will be even harder to explain what subject consenting to if such consent form was ever created. This presents us with another dilemma. How specific should consent forms be? Should they cover only specific information determined at the beginning of the experiment? This way it will be easier to explain to subject what he is consenting to but at the same time it will limit the amount of useful information that experiment can potentially produce. Or should consent forms cover all the data produced by the experiment? This way scientists will be able to use unexpected bits of data at their pleasure, but it will take ages to explain all the intricates of consent form to the subject(Pinxten and Howard, 2014). Next big concern is data handling. Frist, all sequenced data must be stored somewhere to be analysed but how long should it be allowed to store such information? Doubtless that some subjects will want to be kept in loop for new methods/treatments, but should people be re-contracted if they want to receive this information? If this information will be stored in medical facilities than they would need an upgrade in electronic storage capacity because as of now they are not capable of handling this amount of data. Finally, there are obvious safety concerns regarding data storage of high-priced data. As I’ve mentioned before, you wouldn’t want blueprints to your body to be stolen, so should sequences be kept on hospital servers where they could be easily lost or stolen, or should they be sent to safer (and more expensive) location for safekeeping? Secondly, DNA sequence does not provide a lot of information to an ordinary person, it must be analysed first. Team consisting of several highly qualified (and expensive) scientists must analyse this raw data to produce meaningful results, therefor cost of obtaining such results will be very high, so only several percent of population will be able to acquire meaningful results. Does that mean that only rich will be allowed to live longer and better life? Thirdly, sharing acquired data may be beneficial to both scientists and subjects, but increase in sharing may result in breach of privacy and confidentiality (Pinxten and Howard, 2014).

As I’ve mentioned earlier another issue is returning results back to the subject. First, results will vary from subject to subject in usefulness, thus what results should subjects receive? Should results that are not clinically significant be returned? If only significant results should be returned how can one determine what result is to be considered significant. Some results can be hard to interpret due to the large number of variables involved and therefor is very hard to determine strict guidelines for what should be considered significant and what should be considered non-significant. Second, when scientists get results back, they get a full genetic code of a person and it may revile something unusual: potentially harmful sequences that needs to be addressed clinically or sequences that presents potential interest for further research. If scientist recognises such a sequence but it falls outside initial research objective should this finding be reported back to the subject? Should scientists even have access to this sort of information? I’ve touched this point earlier in a broad sense but now I am going to discuss this further. Termes used to describe this sort of findings have many names like phenomenon, unanticipated findings or off-target results. All these different names might confuse some people, but the problem remains: should off-target results be returned to the subject? Even though some methods can be used to restrict focus of the experiment on the sequence that is being investigated scientist still didn’t agree on which one should be used and should they be used at all. Different institutes propose different tactics on how to handle this sort of ethical issues. American College of Medical Genetics recommends that researcher should return the results that can be advantageous to the subject medically as it is our moral duty to help a fellow human if his life is in danger, even if initial goals of the experiment was focused in a different area and consent form signed by the subject clearly prohibits other areas of his genetic code to be explored. ACMG also states that this king of action may only be taken if results were obtained due to incidental or unanticipated results coming up during the experiment. This approach might provide “bad” scientist with an opportunity to screen for mutation without getting a consent from the subject.(McGuireCaulfield and Cho, 2008). However another approach proposed by Gliwa and Berkman concluded that incidental data that might help subjects should not be returned as it puts excess moral burden on researchers, although they accept that their conclusion might change as whole genome sequence technology becomes chipper and easier to carry out (Burke et al., 2013). In Europe different recommendation apply. Controverting ACMG European Society of Human Genetics recommends that filters and other sources are used to prevent researchers from finding unanticipated results. These different opinions show that debates on the matter are still ongoing and results of these debates are still unclear. Finally, companies leave the finals decision on which results should be returned and which results should be kept away from subjects to stakeholders. This presents an important ethical issue as voices of stakeholders may prevent subject from return of results to the subject on subject’s request.

Even if legally speaking stakeholders have every right to keep this information from subjects, is it ethically correct to allow shareholders to decide which parts of the experiment they can withhold from the subject? Research shows that subjects prefer their results to be returned to them when/if incidental findings are presented and are more likely to participate in an experiment if returning of such results is mentioned in a contract. Furthermore, survey taken from the subjects of genetic experiments shows that subjects believe that researchers will return incidental findings when these findings might affect health of the subject despite any contract signed before the experiment. Another survey shows that researchers would also be inclined to return incidental findings that may affect subject’s health. This survey was taken from 16 specialists that were put in 99 common conditions. Results clearly show that most of the specialists shift towards giving results back to subjects. Specialists were inclined to disclose about two thirds of all findings, although some of them were more reluctant to disclose such information than others. Criteria that will sway specialists to disclose incidental findings were also considered but failed to produce any certain results. Other surveys taken from different specialists produced more opinions including an opinion that there should be a limit to data that researchers have to disclose(Pinxten and Howard, 2014).


In conclusion I would like to say that genome sequencing is too young and still has no ethical strict guidelines and it will take humanity some time to establish them. As with all new technology genome sequencing may be considered dangerous at first but as people will gradually adapt to its existence it will become one of the greatest technological advancements of our time. Now that we have this technology its just a matter of adjusting it to our laws and ethical regulation, so everyone can feel safe providing their genetic information for medical treatment or to research. This day will come but now we must review each ethical and legal issue with all care that we can master to avoid issues that might present in the future. One thing that can be said for certain is that worldwide genome sequencing will be affecting our lives more and more with each passing year.


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