Olivera 1

Angela

Mrs. Harris

English I Pre-AP

9/8/2017

Genome Sequencing

Genome sequencing is decoding the human genome to understand the data within the DNA. Genome

sequencing has been tried out in the past but only for specific genes. This was originally thought as being a

smarter way of decoding DNA data since it was thought that the rest of the DNA codes were useless. However,

the Human Genome Research Project has came up with the map of the whole human genome. This has

significantly widened the possibilities that science can do now. Some of the options made possible now are a

better understanding of a virus, how it works with the specific organism, and creating a unique drug that

functions specifically for that individual.1

Genome sequencing has made it easier for a patient to know if they have the gene for a disease. This, in

the long run, will be beneficial because the patient or doctor can be prepared for when the virus is activated. In

the past, they used Southern blot analysis by prescribing specific diets to newborn babies. This isn’t useful for

future reference due to it only prevents phenylketonuria. As time passed, more developments in techniques for

discovering diseases has improved. Although all of that is important, that only works if the virus is already out

and has been spread throughout the population. However, this can find the virus and, in due time, prevent it

from spreading.

Genome sequencing has also helped to fight diseases with gene therapy. Gene therapy removes genes

that harm with working replicas. Genome sequencing has helped gene therapy by bringing new DNA to the host

cell.2 With research and experiments, researchers are discovering more ways to treat diseases. Some of the ways

that have been successful are inactivating a mutated gene, introducing a new gene with one that helps battle the

diseases, and replacing the mutated gene with a healthier version. However, this method is very risky and not

1
"Human Genome Project – HOPES Huntington's ... - Stanford University." 26 Oct. 2010,
http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/human-genome-project/. Accessed 12 May. 2017.
2
"Has the Human Genome Project Delivered for Healthcare? - NCBI - NIH." 24 Oct. 2012,
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4523167/. Accessed 15 May. 2017.
 Olivera 2

yet approved to be safe. It is sought out as a resort to try and aid diseases that have no other cures made. Also,

the brain is not very friendly with new incoming DNA, therefore there are many times when the implanted gene

is refused and destroyed.3

This is made by mapping the viruses’ genome to see if there have been some major mutations. Since

viruses like the influenza also evolve, there will be changes. Some changes are minimal but others are major. If

the changes are major, they could end up making the past vaccine not compatible with combating this new

version of the virus. This is also helpful and is used to prevent or treat animal diseases as well. For the virus

influenza, only 2 gene segments are completely mapped out to explain what the virus's outer protein coat is

composed of. This shows how the virus reacts to certain antidotes, what similarities are in the past viruses that

have vaccines, and if it is linked to any animal disease.4

Genome sequencing has improved the way drugs are made. This is explained through

pharmacogenomics. Pharmacogenomics is pharmacology and genomics combined to make the chemical

makeup of the drug safe, effective, and useful to the organisms that will utilize it. This, with rare and severe

diseases, can be very useful as it will allow for the drug to be specific to an individual. Most common drugs

taken now a days usually have side effects that end up harming the organism more than it is actually helping.

This new field will make the drug be sure to have a positive impact rather than no reaction at all. With this

option being new, it is obvious that it’s still in clinical trials, but in the near future, as this gets approved, it will

provide a wide rage of solutions and cures to many problematic diseases that affect the mass population.5

Gene sequencing has also helped discover evidence of gene evolution. This is possible by sequencing

the human genome and the genome of another animal. With both genomes sequenced, you can identify the

genes that are similar and those who differentiate humans from other animals. When traced back enough, it is

possible to end up with similarities that explain who our ancestors are and, in theory, find out what creature

3
"What is gene therapy? - Genetics Home Reference." 9 May. 2017, https://ghr.nlm.nih.gov/primer/therapy/genetherapy.
Accessed 15 May. 2017.
4
"Influenza Virus Genome Sequencing and Genetic Characterization ...." 1 Jun. 2015,
http://www.cdc.gov/flu/professionals/laboratory/genetic-characterization.htm. Accessed 16 May. 2017.
5
"What is pharmacogenomics? - Genetics Home Reference." 9 May. 2017,
https://ghr.nlm.nih.gov/primer/genomicresearch/pharmacogenomics. Accessed 15 May. 2017.
 Olivera 3

made all others. Aside from this, genome sequencing can also help detect which genes are crucial for life. Also

identifies the set of genes that set humans aside from all other animals. 6

The human genome sequence has been completed. This allows all scientists and researchers to make a

guaranteed effective cure for an illness. The only problem now is to understand what all the segments make and

how they work. In the future, this will be beneficial for monitoring the genome of an individual to see any

progression of a virus or disease. This will also help dieticians by creating a specialized diet that will help the

patient stay healthy and avoid any dormant viruses to not be activated.7

Although all of these are wonderful benefits, with every good there is a bad. Limitations should be

considered since viruses and bacteria do live inside of us and some are hard to find. With many groups and

organizations recreating or creating DNA sequences, it’s highly possible that they may copy some work from

the others.8 Also, since DNA evidence shows we are related to other animals, there will not be an entire human

genome that is exclusively human.9 Going back to the organizations that make the DNA sequences, it is

possible that misreads in nucleotide segments may occur. With this being said, there isn’t really a one true

complete and correct human genome sequence.

This leads to DNA contamination which is a major limitation to genome sequencing. This happens when

DNA from other organisms are included into the DNA sequence of the human genome that is being used. There

have been ways to minimize the total amount of errors occurring in the sequence process. To find the insertions

researchers searched possible mutations and compared them against the NCBI nucleotide database. When doing

this, it’s very clear that half the sequence has been contaminated with other creatures. Although that number is

6
"What did the Human Genome Project accomplish? - Genetics Home ...." 9 May. 2017,
https://ghr.nlm.nih.gov/primer/hgp/accomplishments. Accessed 16 May. 2017.
7
"Human Genome Project Completion: Frequently Asked Questions ...."
https://www.genome.gov/11006943/human-genome-project-completion-frequently-asked-questions/. Accessed
16 May. 2017.
8
"Limitations of next-generation genome sequence assembly - NCBI - NIH." 21 Nov. 2010,
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115693/. Accessed 16 May. 2017.
9
"Genetics | The Smithsonian Institution's ...." http://humanorigins.si.edu/evidence/genetics. Accessed 16 May. 2017.
 Olivera 4

big, half of the sequences have been categorized as new human sequences. These could possibly be fragmented

genes, duplicates, or missing genes.10

In conclusion, human genome sequencing has been beneficial for many aspects of the world today. This

has helped find all types of diseases and helped cure them. In the future, there will be less deaths due to

unexpected viruses, less medication that benefits certain individuals, and a better choice instead of the one size

fits all drugs. Genome sequencing has not only helped the lives of humans but also animals as well. This, with

great steady progress, will change the lives of countless creatures living on this Earth. All the things that

genome sequencing helped to advance will be made possible in the future for all types of diseases. Although

gene therapy and gene testing have only been in clinical trials, pharmacogenomics has been available for

specific diseases. Thanks to the work done in the past, we’ll have a better future.

10
"Limitations of next-generation genome sequence assembly - NCBI - NIH." 21 Nov. 2010,
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115693/. Accessed 16 May. 2017.
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Work Cited

Ex:

Author last name, first. “Title of article” date created. Name of magazine or journal. Website url date used

(7/4/2017)

● Liou, Stephanie. "Human Genome Project." HOPES. N.p., 26 Oct. 2010. Web. 07 Apr. 2017.

<http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/human-genome-project/#what-was-the-human-

genome-project>.

● "Human Genome Project Completion: Frequently Asked Questions." National Human Genome

Research Institute (NHGRI). N.p., n.d. Web. 24 Apr. 2017.

<https://www.genome.gov/11006943/human-genome-project-completion-frequently-asked-questions/>.

● Sivam, Vanessa. "Has the Human Genome Project Delivered for Healthcare?" Annals of Medicine and

Surgery. Elsevier, 2012. Web. 24 Apr. 2017.

<https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4523167/>.

● "What is gene therapy? - Genetics Home Reference." U.S. National Library of Medicine. National

Institutes of Health, n.d. Web. 15 May 2017. <https://ghr.nlm.nih.gov/primer/therapy/genetherapy>.

● "What is pharmacogenomics? - Genetics Home Reference." U.S. National Library of Medicine. National

Institutes of Health, n.d. Web. 15 May 2017.

<https://ghr.nlm.nih.gov/primer/genomicresearch/pharmacogenomics>.

● "What did the Human Genome Project accomplish? - Genetics Home Reference." U.S. National Library

of Medicine. National Institutes of Health, n.d. Web. 16 May 2017.

<https://ghr.nlm.nih.gov/primer/hgp/accomplishments>.

● "Influenza Virus Genome Sequencing and Genetic Characterization." Centers for Disease Control and

Prevention. Centers for Disease Control and Prevention, 01 June 2015. Web. 16 May 2017.

<https://www.cdc.gov/flu/professionals/laboratory/genetic-characterization.htm>.
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● Alkan, Can, Saba Sajjadian, and Evan E. Eichler. "Limitations of next-generation genome sequence

assembly." Nature methods. U.S. National Library of Medicine, Jan. 2011. Web. 16 May 2017.

<https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115693/>.

● Smithsonian's National Museum of Natural History. "Genetic Evidence." Genetics | The Smithsonian

Institution's Human Origins Program. N.p., 01 Mar. 2010. Web. 16 May 2017.

<http://humanorigins.si.edu/evidence/genetics>.