Genetic counseling

Genetic counseling helps people understand genetic information, assess inherited risks, and make informed decisions about testing and care. It combines risk assessment, education, and support without prescribing personal choices.

Pedigree chart: A diagram that records family relationships and traits across generations. Counselors use it to identify inheritance patterns and organize family health history.
Prenatal genetic testing: Testing during pregnancy that assesses fetal genetic or chromosomal conditions. Counseling helps explain screening and diagnostic options, limits, and possible results.
Genetic testing: Analysis of DNA, chromosomes, or gene products to identify genetic variants or other changes. Testing produces information; counseling interprets its implications and supports decisions about it.
Genetic counselor: A healthcare professional trained to assess inherited risks and communicate genetic information. Genetic counselors commonly provide risk assessment, education, and psychosocial support.
Autosomal dominant inheritance: A pattern in which one altered copy of a gene can cause a genetic condition. Recognizing this pattern helps explain why a variant may affect multiple generations.
Family history: A record of health conditions and other traits among a person's biological relatives. It helps estimate inherited risk before or alongside genetic testing.
Carrier screening: Testing to identify people who carry genetic variants that can cause inherited conditions in their children. Counseling helps interpret reproductive risks and discuss available choices.
Genetic screening: Testing offered to groups to estimate the chance of a condition, rather than diagnose it in each person. Counseling helps distinguish a screening estimate from a confirmed diagnosis.
Medical geneticist: A physician specializing in diagnosing and managing genetic disorders. Medical geneticists may work with counselors to evaluate diagnoses and coordinate care.
Autosomal recessive inheritance: A pattern in which a condition usually occurs when a person inherits altered copies of a gene from both parents. This pattern frames carrier results and reproductive risk discussions.

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