Genetic Screening for Disease-related Characteristics

Genetic screening is the application of a test on people for the systematic early detection or exclusion of a hereditary disease, a genetic predisposition to a disease, or to determine whether a person carries a predisposition which may produce a hereditary disease in their offspring. Genetic screening looks for stable characteristics, meaning that repetition of the test is seldom needed and prediction of disease is possible long before its manifestation. Frequently, test results are relevant for family members and reproductive decisions. Target groups may consist of individuals or couples. An example of screening of individuals is neonatal screening; for instance, for phenylketonuria (PKU), but screening can be performed much earlier (prenatal screening and pre-implantation screening) or later (school children, adults). An example of couple screening is screening for carriers of cystic fibrosis (CF), which can be performed prenatal, preconceptional, and in some setting, even pre-marital. Cascade screening is a special case of screening, in which one takes advantage of the family structure. Next to benefits of screening one should be aware of numerous possibilities of psychosocial harm. Many individuals and groups, therefore, have worked on the development of criteria that should be fulfilled for screening in general and genetic screening in particular.