Knowra Genetic screening Genetic screening Genetic screening tests people without symptoms for genetic variants or conditions associated with elevated health risk. It can be offered to individuals, families, or defined populations.
Genetic testing : Analysis of DNA, chromosomes, or gene products to detect genetic variation or diagnose genetic conditions. Screening is one use of genetic testing, applied before symptoms appear.
Newborn screening : Public-health testing of newborns for conditions where early detection can prevent serious harm. It is a widely established population-based application of genetic screening.
Diagnostic genetic testing : Genetic testing used to explain symptoms or confirm a suspected genetic condition. Unlike screening, it begins with symptoms or a specific clinical suspicion.
Genetic counseling : A process that helps people understand genetic information, its implications, and available choices. Counseling supports informed decisions before and after screening.
Next-generation sequencing : A set of methods that sequence many DNA fragments simultaneously, enabling rapid analysis of large genomic regions. Sequencing can identify variants included in genetic screening panels.
Carrier screening : Testing people for genetic variants that could be passed to children and cause inherited disease. It identifies reproductive risk in people who usually have no symptoms.
Predictive genetic testing : Testing an asymptomatic person for a variant associated with future disease, often because of family history. It is usually directed at an individual or family, rather than offered to a population.
Informed consent : Voluntary agreement to a medical procedure after understanding its purpose, risks, benefits, and alternatives. People need to understand possible findings and consequences before genetic screening.
Genotyping : The determination of which genetic variants an individual carries at selected sites in the genome. Many screening tests check a predefined set of variants rather than sequence whole genomes.
Cascade testing : Targeted genetic testing offered to relatives after a disease-associated variant is found in a family. A screening result can prompt testing among relatives who may share the variant.
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