What is the purpose of carrier screening in genetics?

The purpose of carrier screening in genetics is to identify heterozygotes for serious disorders. This type of screening is performed to determine whether an individual carries one copy of a gene mutation that, when present in two copies (one from each parent), can lead to a genetic disorder. This is particularly important for autosomal recessive conditions, where both parents need to be carriers for there to be a risk of having an affected child.

Carrier screening is commonly conducted for specific genetic diseases, such as cystic fibrosis or sickle cell disease, especially in individuals with a family history or those from populations at higher risk. By identifying carriers, healthcare professionals can provide couples with information about their reproductive options, potential risks to their offspring, and available interventions or prenatal testing.

Other options presented do not align with the primary purpose of carrier screening. Assessing the physical health of newborns focuses on immediate health issues rather than genetic status. Diagnosing cancer at an early stage is typically related to screening for specific types of cancer, not genetic carrier status. Evaluating environmental influences on health pertains to external factors affecting health rather than genetic predispositions, which carrier screening specifically addresses.