Medical Genetics

Medical Genetics is the branch of medicine focused on diagnosing and understanding conditions caused by changes in a person’s genes or chromosomes. It covers hereditary conditions, birth defects with a genetic basis, and inherited risk factors for diseases such as certain cancers or heart conditions.

This branch often works through genetic counseling and testing rather than direct treatment, helping patients and families understand what a genetic finding means, how it may affect other family members, and what monitoring or preventive steps might be appropriate. A referral to this branch may follow a family history of a hereditary condition, an abnormal prenatal screening result, or a diagnosis suspected to have a genetic cause.

Because a genetic diagnosis often points to a condition managed by a different specialty, care is typically coordinated closely with the relevant branch, such as oncology for a hereditary cancer risk or cardiology for an inherited heart condition. Genetic counseling also plays an important role in helping patients make informed decisions about testing and next steps, including for family planning.