DNA Day is celebrated on April 25th each year to commemorate the discovery of the iconic double helix structure by Rosalind Franklin, James Watson, Francis Crick, and Maurice Wilkins in 1953, as well as the complete sequence of a human genome in 2022 1,2. This day is dedicated to raising awareness about the importance of genetics and genomic research, as well as the role DNA plays in our lives.
In this context, the Cancer Research Group (CRG) at Universidad de Las Américas (UDLA) in Ecuador, and the Latin American Network for the Implementation and Validation of Clinical Pharmacogenomics Guidelines (RELIVAF-CYTED) focus their efforts on identifying new therapeutically actionable drug targets and oncogenic variants in diverse human populations affected by several types of cancer (breast, prostate, lung, liver, thyroid, brain, melanoma, stomach, colorectal, kidney, ovary, and bladder), particularly those of minority racial/ethnic groups that are significantly underrepresented in global cancer genomics research and clinical trials 3,4.
DNA is the fundamental molecule encoding genetic information crucial for the development, functioning, and reproduction of all known living organisms. The genetic code serves as a blueprint for protein synthesis, the building blocks of life, and the regulation of biological processes and signaling pathways 5. The characterization of DNA, enriched with the patient's clinical data and artificial intelligence, has enabled the development of precision oncology, an emerging field of medicine that aims to harness extensive genomic data to create personalized treatments for cancer patients 6,7. By analyzing a patient's tumor genomic signature, clinicians can pinpoint specific molecular vulnerabilities and design therapies that selectively target these anomalies. This strategy improves patient outcomes by reducing toxic side effects associated with traditional chemotherapy and enhancing treatment efficacy.
Advancements in DNA sequencing technologies and computational tools have accelerated the adoption of precision oncology in clinical practice. Next-generation sequencing (NGS) has enabled rapid and cost-effective analysis of patients' tumor DNA, uncovering abundant information on the underlying molecular drivers of cancer. Combined with sophisticated bioinformatics pipelines, NGS data can be used to guide the selection of targeted therapies and patient stratification in clinical trials 6.
Besides identifying targetable genomic alterations, precision oncology also involves developing innovative therapeutics to regulate specific molecular pathways involved in cancer progression. These therapies, ranging from small molecule inhibitors to immune checkpoint modulators and CAR T-cell therapies, are tailored to address each molecular feature of a patient's tumor 8.
Although promising, precision oncology faces challenges such as tumor heterogeneity, targeted therapy resistance, ethnic characterization, and limited access to cutting-edge treatments. Nonetheless, ongoing research and technological progress continue to pave the way for increasingly personalized and effective cancer treatment approaches, ultimately revolutionizing oncology and enhancing innumerable patients' lives 9.
In summary, advancements in DNA analysis should drive the pharmacogenomics field forward, optimizing drug therapy and promoting precision medicine by adhering to the “new six rights,” which entail providing the right dose of the right drug to the right patient with the right ethnicity at the right time and with the right treatment.
Happy DNA Day!
- Nurk, S. et al. The complete sequence of a human genome. Science 376, 44–53 (2022).
- Watson, J. D. & Crick, F. H. Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature 171, 737–738 (1953).
- Guerrero, S. et al. Analysis of racial/ethnic representation in select basic and applied cancer research studies. Sci. Rep. 8, 13978 (2018).
- Varela, N. M. et al. A new insight for the identification of oncogenic variants in breast and prostate cancers in diverse human populations, with a focus on latinos. Front. Pharmacol. 12, 630658 (2021).
- López-Cortés, A. et al. The close interaction between hypoxia-related proteins and metastasis in pancarcinomas. Sci. Rep. 12, 11100 (2022).
- Ballester, P. J. & Carmona, J. Artificial intelligence for the next generation of precision oncology. NPJ Precis. Oncol. 5, 79 (2021).
- López-Cortés, A. et al. Prediction of breast cancer proteins involved in immunotherapy, metastasis, and RNA-binding using molecular descriptors and artificial neural networks. Sci. Rep. 10, 8515 (2020).
- Sterner, R. C. & Sterner, R. M. CAR-T cell therapy: current limitations and potential strategies. Blood Cancer J. 11, 69 (2021).
- Shin, S. H., Bode, A. M. & Dong, Z. Addressing the challenges of applying precision oncology. NPJ Precis. Oncol. 1, 28 (2017).