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INTERNATIONAL CONGRESS OF

PharmacoGenetics

• Medical genetics

• Sogoltaher,^1,* Kimiyayarahmadi ,²
  
  
  
• Introduction: IntroductionMedical genetics is a vital branch of medicine that examines how genes influence health and disease, blending genetics—the study of heredity and variation—with medical applications to understand genetic impacts on individual outcomes. Its origins trace back to Gregor Mendel’s 19th-century pea plant experiments, which established inheritance principles, and evolved with the Human Genome Project, led by Francis Collins in the late 20th century, which mapped the human genome. This milestone has transformed modern medicine by enabling the identification of genetic variations linked to diseases. Today, medical genetics plays a crucial role in diagnosing genetic disorders, predicting risks, and developing personalized treatments. Technological advances allow physicians to interpret genetic data for targeted therapies, enhancing patient outcomes. As research deepens our understanding of genetic influences, it addresses health challenges, opening avenues to explore genetic disorders, testing, gene therapy, pharmacogenomics, and their ethical implications.
• Methods: MethodsMedical genetics employs diverse methods to study and treat genetic conditions. Genetic testing includes single-gene tests for specific mutations and multi-gene panel tests to assess multiple genes, while screening targets broader populations for risk factors. Gene therapy uses somatic and germ-line approaches, with CRISPR-Cas9 enabling precise gene editing to correct mutations, as seen in trials for cystic fibrosis and hemophilia. Pharmacogenomics analyzes genetic variations to predict drug responses, optimizing treatments like trastuzumab for HER2-positive breast cancer. Research methods, such as genomic sequencing and AI-driven data analysis, enhance pathway understanding. Studies by Gustavsson et al. (2020), Kessels et al. (2019), and Nwankwo et al. (2024) support these techniques, emphasizing early diagnosis, personalized medicine, and ethical considerations in applying these tools effectively.
• Results: ResultsThe application of these methods has yielded notable results. Genetic testing enables early detection of BRCA mutations, prompting preventive measures like surgeries, though false positives can cause anxiety. Gene therapy trials with CRISPR show promise in correcting genetic defects, improving outcomes for hemophilia and certain cancers, as reported by Karimanal and Bandaru (2024). Pharmacogenomics enhances treatment efficacy, tailoring antidepressants and cancer therapies to genetic profiles, reducing trial-and-error prescribing (Nwankwo et al., 2024). However, challenges include ambiguous test results, potential off-target gene edits, and variable patient responses. Ethical issues, such as privacy risks and unequal access, highlighted by Gustavsson et al. (2020), underscore the need for balanced implementation. These findings drive advancements while highlighting areas for improvement.
• Conclusion: ConclusionMedical genetics is revolutionizing healthcare by leveraging genetic testing, gene therapy, and pharmacogenomics to diagnose, predict, and treat diseases with precision. These methods improve patient outcomes through early interventions and personalized treatments, supported by technologies like CRISPR and AI. Yet, challenges such as ethical dilemmas, data privacy, and access disparities require careful management. Future directions involve expanding global access, refining gene-editing safety, and integrating AI for faster genetic analysis. By addressing these issues with ethical oversight and innovative research, medical genetics can fulfill its potential to enhance health equity and quality of life, marking a new era in personalized medicine as of September 10, 2025.
• Keywords: KeywordsMedical genetics, genetic disorders, genetic testing, gene therapy, pharmacogenomics, CRISPR