While we may share common experiences, such as exposure to the same virus, our individual responses can vary dramatically. One person might develop severe symptoms, while another may remain entirely unaffected. The same goes for allergies and other health conditions. These differences stem from the fundamental variations encoded within our genes, making each of us unique in our biological makeup.
Personalized medicine, also known as precision medicine, is an emerging approach that seeks to unlock the secrets of these individual variations and to customize healthcare. By understanding the unique genetic makeup, lifestyle, and environmental factors that shape each person, we can move from a “one-size-fits-all” approach to healthcare towards more effective targeted treatments. [1]
The concept of personalized medicine arose with the launch of the foundational Human Genome Project (HGP), which believed that understanding the human genome was crucial to unlock the secrets of how our bodies respond to diseases, paving the way to breakthrough discoveries in medicine research. Likewise, the personalized medicine approach decodes the individual variation puzzle using diverse sequencing technologies; not only to know our genomic makeup, but also to know behind our genes and the molecules involved in the different chemical reactions that take place inside our bodies.[1]
Unveiling the Benefits
Optimizing Diagnosis: Using genetic markers to improve diagnostic accuracy, predicting disease progression, and tailoring treatment plans accordingly.
Targeted Treatments: No more trial and error. By matching drugs to individual genetic profiles and molecular signatures, personalized medicine unlocks targeted therapies, maximizing effectiveness while minimizing side effects.
Disease Prevention and Risk Assessment: The power of individual data gives us the ability to predict disease susceptibility and implement preventive measures. Tailored prevention strategies and early intervention have become possible, empowering individuals to take control of their health before potential threats arise. [1] [2]
Challenges and a Call to Action
While the promise of personalized medicine is bright, challenges remain. Ensuring patient data privacy and security is paramount, demanding robust ethical frameworks and informed consent protocols. Cost remains a hurdle, and regulatory landscapes need to adapt to embrace this evolving field. Yet, the potential benefits outweigh these challenges. From public health advancements and accelerated research, to cost-effectiveness eventually, personalized medicine stands to revolutionize healthcare on a global scale. [2]
From Dream to Reality: Mila’s Story
Mila Makovec was just six years old when Batten disease, a devastating neurological condition, began stealing her childhood. The disease, typically taking lives in early adolescence, promised only darkness; yet, Mila and her family refused to succumb. Doctors at Boston Children’s Hospital conducted genomic and molecular characterization for samples from Mila to identify the disease-causing mutation. After they managed to identify it, they were able to develop a customized treatment for her. The results were astounding; reduced seizures, improved strength, and newfound alertness. Mila's story is a testament to the transformative power of personalized medicine; a beacon of hope that illuminates the path toward a future where healthcare embraces the unique symphony of each individual. [3]
Personalized medicine is still in its preliminary stages, but it has the potential to reshape the healthcare sector. As we succeed to unravel the puzzle of human biology, we are at the cusp of a revolutionizing healthcare future.
References
Goetz LH, Schork NJ. Personalized medicine: motivation, challenges, and progress. Fertil Steril. 2018 Jun;109(6):952-963. doi: 10.1016/j.fertnstert.2018.05.006. PMID: 29935653; PMCID: PMC6366451.
Naithani N, Atal AT, Tilak TVSVGK, Vasudevan B, Misra P, Sinha S. Precision medicine: Uses and challenges. Med J Armed Forces India. 2021 Jul;77(3):258-265. doi: 10.1016/j.mjafi.2021.06.020. Epub 2021 Jul 3. PMID: 34305277; PMCID: PMC8282516.
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. PMID: 31597037; PMCID: PMC6961983.
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