Human Genetics

Genetic Testing and screening are fundamental tools in modern medicine that allow the detection of changes in genes, chromosomes, or proteins, providing insights into an individual’s genetic makeup. Genetic testing is used to diagnose inherited disorders, determine carrier status, and evaluate the risk of developing certain diseases later in life. These tests can be conducted at different stages, including prenatal testing before birth, newborn screening shortly after birth, and predictive or diagnostic testing in childhood or adulthood. Common techniques include DNA sequencing, polymerase chain reaction (PCR), chromosomal analysis, and microarray testing, which help identify mutations, deletions, or duplications associated with genetic conditions.

Genetic Screening focuses on identifying at-risk individuals at a population level for conditions like sickle cell anemia, cystic fibrosis, and Tay–Sachs disease, enabling early intervention and preventive measures. The information gained can guide personalized treatment, inform reproductive decisions, and support precision medicine strategies. However, genetic testing and screening also raise important ethical, legal, and social concerns, such as privacy, data protection, informed consent, and potential discrimination based on genetic information. Despite these challenges, they remain a cornerstone in advancing human genetics research and improving healthcare outcomes.