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Personalised medicine and genetic testing

Introduction

Generally, different drugs are tested on a large number of people. Based on how their body reacts, an average is taken. This average is what is assumed to be the case for almost everyone. When administering drugs to patients with different kinds of diseases, we expect their bodies to react the same way to the drug as was tested on the administered patients. Ordinarily, these drugs do work out the same for a lot of people, but at the end of the day no two patients are alike. In Fact, there have been quite a few cases where patients have negative side effects from the intake of pharmaceutical drugs that their body did not react well to. 

To properly diagnose and give medication to a patient, we need to look at a couple of different approaches to figuring out the right medication or therapy to be given. Two of those approaches are genetic testing and environmental factors. Genetic testing allows for us to understand, on a deeper level, what diseases the patient is susceptible to and how different drugs react to their genes. To furthermore diagnose the patient, one must look at the environmental factors in which the patient has been surrounded their entire lives with. This will help us understand what has been in and out of their system and how it affects their susceptibility to certain diseases and drugs. This is where personalised medicine comes in. It is a form of specialised treatment that reads out an individual’s genetic information and tests the patient’s response to particular drugs.

In this article we will be discussing if genetic testing will be accurate enough to test out how certain drugs will affect each individual patient and if it can provide us with an accurate enough genetic profile that will be able to help in giving personalised medicine to patients. In doing so, it helps us in making treatment choices that’ll treat different kinds of illnesses and help patients stay healthier for much longer.

How it works

First of all, let’s get started on the basics. What is personalised medicine and how does it work? Drugs are tested on particular gene variants which are the same variants that some diseases are associated with. This test determines how the gene variant reacts to the drugs and then the dosage or the drug is adjusted based on that reaction (Adams, 2008).There are two things in particular that researchers focus on when testing out these drugs. Those are;  Pharmacokinetics—how much of a drug is needed to reach its target in the body, and Pharmacogenomics—how well the target cells react to said drug.

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Pharmacokinetics comprises of four different processes; Absorption—how a drug enters into the bloodstream after its intake, Distribution—has to do with where exactly the drug goes after being absorbed and how much of it actually reaches the target site, Metabolism—how the drug gets broken down in the body, this can be done immediately with the enzyme of the body or it may require some products that have their own pharmacologic action, meaning it’s own characteristics that make it medically effective. Without those characteristics, it would no longer be effective, Excretion— this is simply how the drug leaves the body.

Advancements

There are some really great advancements that we’ve made throughout the past few years in terms of our technology and research relating to genetics and how it helped us further our goals in personalised medicine. Some of them include the Human Genome Project. The aim of this project was to map out the entire human genome which would allow us to further understand our human genetic information in a much deeper manner. The completion of this project in 2003 has greatly accelerated the research on personalised medicine by allowing us to understand diseases and the way they respond to drugs on a genetic level (Stephen, 2024). Alongside the mapping out of the human genome, the technologies we have created have greatly reduced the cost of DNA sequencing. This has skyrocketed our research on specific genetic mutations that cause  genetic material in a short amount of time, while also reducing costs. The costs being reduced allows for us to analyse the genetics of individual patients to further understand how diseases and drugs work in the individual on a genetic basis so as to make and give accurate medication to the right patients. 

Advancements 2

With the advancements in genetic testing, we have recently come to the point where we can get our genetic information directly from a company without a physician’s involvement. This is called direct to consumer genetic testing or DTC. This first started back in 2007 with the emergence of  companies like 23andMe. This DTC has been a great help in getting more people to collectively join in on genetic testing, further developing our research. The more people that allow their genes to be tested, the more genetic information we will have on various different populations across ethnic, racial, cultural, and many other groups. This allows us to further understand the kinds of genetic mutations that possibly makes one group more susceptible to a disease than another. Though, there still isn’t a large enough data to be certain on what disease mutations cause what diseases and across which groups it affects most. With more research and more genetic testing being done, we will surely get more answers and as a result further advance our healthcare systems alongside it.

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Challenges

With any new research and technology comes challenges and complications, personalized medicine is no exception. In order to properly interpret genomic data, one needs to be skilled and have advanced knowledge on genetics and the technologies that are used to analyze them. On top of that, getting fully accurate untouched genetic results may be an issue because one would need to put  factors such as the environment, genetic interaction and much more. In getting a thorough layout of a person’s genetic information, one not only gets the information on disease mutations and the drug effects on them, but one also gains information on a person’s family, which is why there is rightly a great concern for privacy in this field of research. The genetic information of a person getting into the wrong hands is not only invasive but can also be dangerous. 

Healthcare, like many other fields in life, has its unfairnesses. Access to healthcare services is not an easy straightforward thing for many people. That may not change with personalized medicine being implemented into our healthcare system. Its implementation would greatly help a lot of people out when it comes to getting accurate medication to help battle many different illnesses in the best manner that can be done with our latest medicine and technology. But it is not a certainty that everyone will get that easy access to such necessary healthcare services. That is something we should actively look to improve in the very near future. Accessibility to healthcare is not the only concern that we should be worried about for the future of personalised medicine, there is also the issue of discrimination based on genetics. This could project itself into employment, insurance, education, etc. Genetic discrimination is where a person loses their opportunities whilst another person gains advantages on the likelihood of that person contracting certain diseases, or not, based on their genetic information. A person can lose their job opportunities and other things because of the probability of contracting a certain condition, and it is necessary to put in place laws that would protect those people in such cases.

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Conclusion

The integration of personalised medicine in our healthcare system is and would be an amazing progression in our health and wellness. Not only would it help us prevent and treat multiple different diseases and conditions based on the input we receive from different genetic sources from across the globe, but it can also greatly help in reducing the cost of public and private healthcare costs. With this comprehensive genetic information on patients, the hospital and patients themselves would not have to do so many different tests to pinpoint a certain illness that is ravaging the patient’s body. It would be much quicker and cost effective to locate and treat. 

Of course as we discussed above, nothing comes without its challenges, but if the patients, healthcare providers, lawmakers, etc put their heads together, personalized medicine will be a great leap into a brighter future for all citizens of the world. Even though a lot is left, in terms of the work needed to take personalized medicine to the next level, as long as it is taken one at a time and we continue pursuing progress we as a collectively can make personalised medicine the norm of the future and ensure everyone receives quality healthcare services that aim at improving our everyday lives.

Bibliography

Adams, J. (2008). Can doctors predict who should take certain medications and who will suffer side effects? With personalized medicine, physicians may be able to use genetic profiles to make treatment choices

Brittain, H. K., Scott, R., & Thomas, E. (2017). The rise of the genome and personalised medicine. 

Scott, S., Abul-Husn, N., Obeng, A. O., Sanderson, S., & Gottesman, O. (2014). Implementation and utilization of genetic testing in personalized medicine. 

Stephen M. (2024). The Role of Genetics in Personalized Medicine: Advancements, Challenges, and Ethical Considerations

Strianese, O., Rizzo, F., Ciccarelli, M., Galasso, G., D’Agostino, Y., Salvati, A., Del Giudice, C., Tesorio, P., & Rusciano, M. R. (2020). Precision and Personalized Medicine: How Genomic approach Improves the Management of cardiovascular and Neurodegenerative Disease.

Wertheimer, A. (2017). Personalized medicine using genetic testing.

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