Whole Genome Sequencing

Whole Genome Sequencing is a procedure where the entire genome is sequenced as well as all of the DNA being sequenced as well. It is possible to determine the exact order of the nucleotides as well. Whole Genome Sequencing is currently the fastest method to sequence the whole genome. It is a method on perhaps finding a single genetic disorder in the genome to determine either the person has a disease or not. By knowing this, it will be possible to find out the antibiotics or treatment you can get to cure the disorder. Either it be eating something specifically or even getting more exercise.

I think the greatest advancement from Whole Genome Sequencing is finding a cure or an antibiotic for a disease. After testing for Whole Genome Sequencing, it will show if there has been a genetic disorder within the DNA and with that information, it can be determined that these specific observations are recorded for a specific disease. And with it, we can start the process for making a cure for that disease. One example is about actor, Angelina Jolie. Angelina Jolie comes from a family that has Breast Cancer running through her family tree and after getting her genome sequenced, it has been official that she has had that same genetic disorder, ultimately meaning that she has been diagnosed with Breast cancer. At the end, she had decided that she will get her breasts surgically removed so that the cancer cannot spread. So this is a positive impact WGS had on a person, letting her dodge a bullet using this procedure.

The most common way that Whole Genome Sequencing is used is diagnosing patients with genetic disorders. It helps to identify the ones that doctors cannot catch through standard materials or symptoms. One example of this case is about a young boy named Harrison Snow. Although this is not a case that has been solved just with WGS but it has been identified already with symptoms, but it is a great example of showing the possibilities for curing a disease with WGS. Harrison was born with a very rare muscular disease that comes up around 1 in 500,000 people that did not allow him to easily speak, swallow, or breathe. After sequencing, it was known that Harrison was diagnosed with Congenital Myasthenic Syndrome. The family was told that there are only 5 types of drugs that can help cure this disease. And Harrison has started taking a specific syrup called Albuterol syrup and after around 4 weeks, it was possible to see a drastic change in his personality. Harrison’s mother, Susan exclaims that, “He has a ton of energy…we can hardly make him sit down to watch a TV show these days! He is talking much better, he is swallowing without issue, his breathing is slower and deeper.  We have been so encouraged by the changes.” With this example, we can see the positive outcome that has come to Harrison’s family and the aspect that makes it even better is that nothing that required pain was included. Just a liquid that is drunk made a huge difference. We can see how much the use of biotechnology has improved on saving lives.

This form of biotechnology is a potential life saving, planet curing procedure in my opinion. Although this form of biotechnology has not been completely mastered and life-saving at the moment, I have a hunch that it will in the future. December of 2019, novel Coronavirus has been found and so far, it has taken almost around 2.5 million peoples’ lives and around 112 million peoples’ everyday lives. It is a deadly virus and there are vaccines coming out, but there will be more of this kind of things in the future. Since WGS shows us the genetic mutations that have happened in the body, with that we can see what COVID has changed in the human genome. With this method, we can compare the genomes with positive and negative tested people and find out the transmission of the virus. And with that info, we can create vaccines and cures and also, be able to prepare for future viruses. Although this may be a very useful method, WGS is incredibly expensive and it takes a bit of time as well. As well as gathering the materials are extremely difficult to do as specific sequencing tools are not available.

As this form of biotechnology has evolved over the past years, it has been saving more and more lives by the year. And it will continue to do so as scientists and doctors will have a better understanding about these genetic mutations and how we can fix them.

Sources

“Rare Disease Patient Success Stories.” Rare Genomics Institute, www.raregenomics.org/success-stories.