Medicover Genetics 1st DNA Essay Competition Winners

Here you can read the winning essays from the first, annual DNA essay competition on the subject of “How unfolding the DNA code can help with precision medicine”.

In first place was Christina Miltiadou from The GC School of Careers in Nicosia, Cyprus, and in second place was Ekaterina Smoliar from IMS Private School in Limassol, Cyprus.

Find out more about the competition in our newsroom.

First Place – Decoding life: the power of unfolding the DNA 
by Christina Miltiadou, The G C School of Careers, Nicosia, Cyprus

Introduction

Precision medicine, a rapidly growing field, is an approach to healthcare that tailors medical treatments, using individual patient information to customize medical care, taking into account their unique genetic makeup, environment, and lifestyle factors. The human genome, which is the complete set of DNA of our cells, provides a vast amount of information that can be used to develop personalized treatment plants. Due to recent technological advances, and the completion of the Human Genome Project, unfolding the DNA code has become a crucial component of precision medicine, as it holds such fundamental information about our development. DNA sequencing can now be done quickly and efficiently, opening up new opportunities for researchers and healthcare professionals to use genomic information to diagnose and treat diseases with greater precision.

What is the DNA?

DNA, usually found in the nucleus of a cell, contains the genetic instructions for the development, functioning, and reproduction of all living organisms. It is made of four types of nucleotides: adenine, cytosine, guanine, and thymine. The sequence of these nucleotides along the length of DNA molecules determines the genetic code, which contains the information necessary for protein formation and other molecules required for life processes. While all living organisms of the same species have nearly the same genetic code, the areas, which are activated, and quoting for protein formation are different for each individual. Activated areas of our genetic code are determined by inheritance, environmental, and lifestyle factors. This activation and deactivation of different areas of our DNA are what differentiates us from one another.

The Human Genome Project

One of the most important advances in medicine has been the ability to sequence the human genome. Completed in April 2003, the Human Genome Project’s completion ‘provided fundamental information about the human blueprint’ [1]. DNA sequencing has become a rather simple and cost-friendly process that provides researchers with information about an individual patient, allowing them to identify genetic mutations or variations that may increase the risk of certain diseases or affect the patient’s response to certain treatments.

Application in precision medicine

By analyzing a patient’s DNA sequence, doctors can identify genetic mutations that may predispose them to certain diseases or affect their response to certain medications. For example, a genetic mutation in the BRCA1 or BRCA2 genes is associated with an increased risk of breast and ovarian cancer. By identifying this mutation, doctors can provide more personalized and effective treatments for these patients. Other examples of diseases may include heart disease, diabetes, and Alzheimer’s disease. Through comparing and analyzing our DNA, mutant genes can be identified early on, and doctors and medical professionals can provide personalized preventative measures to reduce the risk of developing these diseases.

Another use of DNA analysis is targeted therapy. Targeted therapy uses drugs that specifically target the proteins produced by mutated genes. In research published in 2018, about precision medicine and its progress, a drug known as ivacaftor is currently being used to treat people with cystic fibrosis, a respiratory disease, caused by a genetic defect in the CFTR gene. There are multiple forms of this mutation, leading to different types of defects in the CFTR gene. Through DNA sequencing and analysis, it was discovered that ‘ivacaftor is only used for the small subset of DF patients whose CFTR mutations lead to this specific gating problems’ [2]. This discovery has helped make treatment for CF much more effective. Despite all the immediate benefits of DNA analysis and its potential to improve immediate treatment plans for patients, analyzing the DNA code can also help advance medical research by identifying new genetic targets for drug development and improving our understanding of the underlying causes of diseases in the long term.

Conclusion

Conclusively, by understanding the genetic code that makes each of us unique, doctors can provide more personalized and effective treatments for a wide range of diseases. This can help make medical treatments more accurate and less invasive, as well as help us understand the root of diseases, potentially helping us find treatments and cures for diseases such as cancer which will increase our standard of living. Hence, the unfolding of the DNA code has the potential to revolutionize the practice of medicine and improve the health outcomes of millions of people around the world.

References

[1] The Human Genome Project, https://www.genome.gov/human-genome-project.

[2] “Personalized medicine: motivation, challenges, and progress” Laura H. Goetz, M.D., Nicholas J. Schork, Ph.D., June 2018, https://www.fertstert.org/article/S0015-0282(18)30407-2/fulltext. Accessed 26/03/2023.

This article was published in its entirety and may contain errors or omissions. The information provided is strictly for the purposes of the DNA essay contest, and should not be used for decision-making.

Second Place – How unfolding the DNA code can help precision medicine
by Ekaterina Smoliar, IMS Private School Limassol, Cyprus

We are all different. Science explains it through the existence of unique genetic information passed to us from our ancestors and contained in our DNA. Functioning as a storage of genetic material and a new protein production mechanism, DNA is crucial for our growth, reproduction, and overall well-being. The importance of DNA made it one of the most scientifically studied topics.

From identity confirmation to ancient mysteries

Most of you may have already encountered DNA technologies in everyday life. For example, DNA profiling helps to prevent diseases and illnesses, such as diabetes, heart disease, and cancer through early detection of inherited genes. Likewise, DNA matching techniques are used in criminal investigation, ancestry, ancient mysteries, and adoption cases allowing adoptees to find their biological parents [1]. Also, we all eat fruits and vegetables which are genetically modified to increase plants’ resistance to diseases and pests.

Precision medicine matters

It is obvious that our differences are of vital importance in medicine. Though at present most medical treatments are designed for a standard patient, it is essential to personalize them to account for dissimilarities in our genes, microbiome, ecological factors, and lifestyles. For over 20 years precision medicine, also sometimes referred to as personalized or individualized, has been developing at a high pace. It is much more effective than the standard approach not only due to the individual risk of disease prediction and design of individual drugs, but also due to its potential ability to predict side effects and each patient’s response to treatment.

The time has come

Precision medicine has become possible mostly thanks to DNA sequencing. The first human genome cost nearly $2.7 billion and took 13 years to complete [2]. Modern tools made this process fast and inexpensive, costing as low as $399 [3] and being completed in hours, allowing scientists to get extensive databases of human genetic variations. This makes an individualized approach sometimes even cheaper than the standard average treatment.

Imagination is the limit

Except for sequencing, there is a great number of other directions of DNA decoding, which allows the development of new approaches to precision medicine. For instance, in their study [4], the researchers from the Institute for Research in Biomedicine in Barcelona made first-ever high-resolution images of the separation of two strands of DNA – the key process to understanding gene activity and designing drugs to correct it in the future. Now the research even goes to such fields as DNA and environment. In 2023 scientists from the University of Barcelona managed to identify DNA sequences that change in different environments because of acidity [5].

The future is now

Precision medicine isn’t just theoretical research. In some cases, it is already happening. A lot of clinical trials are being carried out to prove that precision medicine options may be more efficient than current medications. An extremely important direction of DNA research in precision medicine is pharmacogenetics, which studies genetic variation that influences response to drugs, and pharmacogenomics, which helps to design individualized treatment. For example, a test that evaluates multiple genetic variations of patients’ responses to antidepressants and antipsychotics. The 2015 study of 13,000 behavioral-health patients showed a $1,036 reduction in annual prescription costs for tested patients [6].

The most spoken of example of precision medicine is certainly cancer treatment. The newly accepted approach suggests that genetically alike tumors should be treated similarly. Researchers group them not by location in the body, but by their genetics. For example, a drug called imatinib works to treat leukemia only when the cancer cells have one particular genotype. So, doctors test people for it and give the drug only to those who tested positive [7].

Though cancer precision treatment remains the most popular topic, there are other examples of precision medicine advances, like HIV treatment based on determining virus strains and predicting patients’ drug resistance, or tuberculosis treatment considering patients’ genes that may make them more likely to suffer side effects from certain drugs [8]. Interestingly, microbes that live in human bodies can be studied with the same rapid DNA sequencing techniques as a human genome. These tools are lifesaving when used for patients in emergency rooms to identify a cause of disease in hours, providing doctors with proper treatment choices [9].

What’s next?

Though the research on unfolding the DNA code is very extensive, the transformation of theory into practice has not been ideal. Implementation of discovered methods is a great challenge in the development of precision medicine, not to forget privacy concerns. Another challenge we have to target is granting equal access to precision medicine to everyone [10]. Despite all the difficulties, precision medicine is a path to saving millions of lives in the future.

References

[1] 10 Most Common Uses of DNA in Everyday Life. From https://techgossip.org/10-most-common-uses-of-dna-in-everyday-life/.

[2] National Human Genome Research Institute. DNA sequencing costs: data from the NHGRI Genome Sequencing Program (GSP). Retrieved November 2, 2015. From http://www.genome.gov/sequencingcosts/.

[3] Whole Genome Sequencing Cost. From https://sequencing.com/education-center/whole-genome-sequencing/whole-genome-sequencing-cost.

[4] Pérez A. and Orozco M. First ever high-resolution observations of DNA unfolding. Institute for Research in Biomedicine, Barcelona, 2023. From https://www.irbbarcelona.org/en/news/first-ever-high-resolution-observations-of-dna-unfolding.

[5] Researchers identify DNA sequences that modify their structure according to the environment. Scientific, 2023. From https://www.irbbarcelona.org/en/news/scientific/researchers-identify-dna-sequences-modify-their-structure-according-environment.

[6] Winner. J.G. et al. (2015). Combinatorial pharmacogenomic guidance for psychiatric medications reduces overall pharmacy costs in a 1-year prospective evaluation. Current Medical Research and Opinion. Early online, 23 July 2015. doi:10.1185/03007995.2015.1063483. https://www.tandfonline.com/doi/full/10.1185/03007995.2015.1063483.

[7] Medically Reviewed by Robinson J. What Is Precision Medicine? MD, August 17, 2022. From https://www.webmd.com/cancer/precision-medicine.

[8] Bissonnette, L. & Bergeron, M.G. (2012). Infectious disease management through point-of-care personalized medicine molecular diagnostic technologies. Journal of Personalized Medicine 2, 20, 50-70. doi: 10.3390/jpm2020050. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251365/pdf/jpm-02-00050.pdf.

[9] Sibley, C.D., Peirano, G. & Church, D.L. (2012). Molecular methods for pathogen and microbial community detection and characterization: Current and potential application in diagnostic microbiology. Infection, Genetics and Evolution 12:3, 505-521. doi: 10.1016/j.meegid.2012.01.011. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106020/pdf/main.pdf.

[10] 20 Years of precision medicine in oncology. The Lancet, May 15, 2021. From https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)01099-0/fulltext#articleInformation.

This article was published in its entirety and may contain errors or omissions. The information provided is strictly for the purposes of the DNA essay contest, and should not be used for decision-making.