Medical Genetics


Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

A genetic disorder is a genetic problem caused by one or more abnormalities formed in the genome.

Medicine is the science and practice of the diagnosis, treatment, and prevention of disease.

Genetics is the study of genes, genetic variation, and heredity in living organisms.

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Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care.


For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.


In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics.

The phenotype of an organism is the composite of the organism's observable characteristics or traits, including its morphology or physical form and structure; its developmental processes; its biochemical and physiological properties; its behavior, and the products of behavior, for example, a bird's nest.


Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Personalized medicine, precision medicine, or theranostics is a medical model that separates people into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on their predicted response or risk of disease.

Predictive medicine is a field of medicine that entails predicting the probability of disease and instituting preventive measures in order to either prevent the disease altogether or significantly decrease its impact upon the patient.

Gene therapy is the therapeutic delivery of nucleic acid polymers into a patient's cells as a drug to treat disease.

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