Year: 2025
Type: article
Abstract: The Swiss scientist Friedrich Miescher first identified deoxyribonucleic acid (DNA) in 1869, marking the beginning of genetic research. Subsequent studies led to the discovery of DNA’s composition and structure, culminating in Watson and Crick’s 1953 model of its three-dimensional, double-helical structure. DNA’s functional units, genes, encode proteins essential for biological processes, and variations in DNA sequences are classified as polymorphisms or mutations based on their population frequency. Advances in genetic research have facilitated the development of cytogenetic, biochemical, and molecular tests, enabling the precise analysis of genetic material. These tests provide valuable information for personalized medicine, particularly in pharmacogenomics and predictive medicine. Once considered an exclusive domain of specialized medicine, genetic testing is now becoming an integral component of clinical practice. Technological advancements, declining costs, and increased understanding of DNA’s role in disease susceptibility have contributed to its growing accessibility. Genetic testing holds significant potential in primary care, offering insights into disease predisposition, optimizing drug therapy, and enabling early interventions. However, despite its promise, the integration of genetic testing into routine medical practice remains a challenge due to concerns related to clinical utility, ethical considerations, and the need for physician education in genetics. A key question persists: does genetic testing offer practical benefits for routine patient care, or does it remain largely theoretical? This review aims to explore the role of genetic testing in primary care, assessing its potential advantages while addressing challenges that may hinder its widespread adoption. By evaluating the current state of genetic testing, this analysis seeks to determine whether it represents a transformative tool in modern medicine or an evolving field with yet-to-be-fulfilled promises.
Source: Konuralp Tıp Dergisi
DOI: 10.18521/ktd.1635787
Author: Nevena Ivanova
Institution: Medical University Plovdiv
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4416596119