Medical Genetics

Medical genetics is a medical specialty that applies the principles of genetics and genomics to the diagnosis, management, and prevention of human disease. This field investigates the role of single genes, chromosomes, and complex genomic variations in both rare hereditary disorders, such as cystic fibrosis and Huntington's disease, and common multifactorial conditions like heart disease and cancer. Its clinical practice involves a wide range of activities, including diagnostic and predictive genetic testing, prenatal screening, pharmacogenomics to tailor drug treatments, and providing crucial genetic counseling to help individuals and families understand and adapt to the medical, psychological, and familial implications of genetic contributions to health.