Cascade screening

Cascade screening is the systematic testing of biological relatives after a heritable risk variant is identified in one family member. It uses family relationships to find people who may benefit from earlier monitoring or prevention.

Proband: The first person in a family to be identified with a condition or genetic variant relevant to an investigation. The proband’s finding usually initiates testing of relatives.
Familial hypercholesterolemia: An inherited disorder characterized by high low-density lipoprotein cholesterol and increased risk of premature cardiovascular disease. Identifying affected relatives enables earlier cholesterol treatment.
Population screening: The systematic testing of people in a defined population who may not have symptoms or known family risk. Cascade screening starts with a known familial variant rather than an entire population.
Genetic discrimination: Unfair treatment based on actual or presumed genetic information. Relatives may weigh concerns about privacy or discrimination before testing.
Genetic privacy: The protection and control of information about a person’s genetic characteristics. Sharing results across families raises questions about whose information may be disclosed.
Pathogenic variant: A DNA sequence change classified as causing or contributing to disease. Cascade testing targets the specific variant found in the proband.
Lynch syndrome: An inherited cancer predisposition syndrome caused by pathogenic variants in DNA mismatch repair genes. Relatives who carry the variant can begin appropriate cancer surveillance.
Prenatal screening: Testing during pregnancy that estimates the chance of selected fetal conditions. It concerns pregnancy-related risk, not identifying carriers across a family.
Informed consent: Voluntary agreement to a medical intervention after understanding its purpose, risks, benefits, and alternatives. Each relative decides whether to undergo testing with an understanding of its implications.
Family history: Information about health conditions and traits among a person’s biological relatives. Incomplete family histories can obscure who should be offered testing.

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