obligate carrier
Individual who must carry a pathogenic variant based on pedigree analysis, regardless of testing status. Key concept in genetic counseling.
Full Definition
A person who, based on family history and inheritance patterns, must be a carrier of a pathogenic genetic variant even if direct genetic testing has not been performed or is inconclusive. The obligate carrier status is determined through pedigree analysis when an individual has both an affected parent and affected offspring for an autosomal recessive condition, or when genetic segregation patterns definitively indicate carrier status. This concept is particularly important in genetic counseling for family planning decisions and in situations where direct testing may not be available, feasible, or informative due to technical limitations.
Usage
Usage note: Distinguish clearly from carriers identified through direct testing in genetic counseling contexts.
In Context
- "Pedigree analysis identified the mother as an obligate carrier for cystic fibrosis based on her affected child and affected father." — Genetic counseling session
- "The genetic counselor explained that obligate carrier status could be determined even without direct DNA testing." — Patient education materials