Genetic Carrier Testing and Screening

Abstract Genetic carrier testing involves testing for the heterozygous status of a recessively inherited disorder in individuals who, apparently healthy themselves, have a high risk of passing on the genetic disorder to their offspring. Carrier testing enables couples of childbearing age to make informed reproductive decisions. Carrier tests are used by people who have a family history of an inherited disorder, partners of carriers and partners of individuals who have the disorder. A prerequisite for knowledge of a possible risk for relatives is the dissemination of information in the family. Carrier testing can also be offered as a screening test to persons who do not have an a priori increased risk of being a carrier based on family history. With new genetic technologies, it is possible to screen for a growing number of disorders simultaneously, allowing more diverse populations to benefit than traditional carrier screening for a limited number of conditions. Key Concepts Genetic carrier testing facilitates informed decision‐making for individuals and couples regarding family planning and reproductive options. Family disclosure of genetic information is a prerequisite to knowledge about the risk and availability of carrier testing. The uptake for carrier testing in high‐risk families is often lower than expected. To minimise (time) constraints and maximise reproductive options, carrier testing before conception is recommended. Carrier screening is the detection of carrier status in persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Advanced genetic testing technologies allow simultaneous screening for a growing number of disorders, regardless of ancestry.