What defines a genetic disorder?

A genetic disorder is fundamentally characterized by an abnormality in the genetic makeup of an individual. This can involve mutations in specific genes, structural changes in chromosomes, or disorders caused by more complex interactions of multiple genes. These abnormalities lead to the malfunction of biological processes, resulting in various health issues or physical anomalies.

While health problems caused by genetic variation may have relevance to the overall concept of genetic disorders, the comprehensive definition focuses specifically on the abnormalities in genes or chromosomes that directly cause these health issues. In contrast, threats to biodiversity or infections do not pertain to the intrinsic genetic abnormalities that define genetic disorders. Therefore, the hallmark of a genetic disorder is its root in abnormal genetic material, making this definition precise and accurate.