Genetic Carrier Testing

Abstract

Genetic carrier testing includes tests for the heterozygous status of an inherited disorder in individuals who, although apparently healthy themselves, have a high risk of transmitting the genetic disorder to their offspring. Carrier testing will allow couples of childbearing age to make informed reproductive decisions. Genetic carrier tests are used by people who have a family history of an inherited disorder or carriership, reproductive partners of carriers and partners of individuals who have the disorder. A prerequisite for knowledge about a possible risk for relatives and the availability of testing is the dissemination of information in the family. Many factors impede the sharing of genetic information in families including lack of knowledge, persistent lay beliefs or poor relationships. In addition, several factors have been identified that interfere with decisions about genetic carrier testing, resulting in low uptake rates for carrier tests in high risk families. Key concepts Reproductive planning is the most important factor motivating genetic carrier testing. Family disclosure of genetic information is a prerequisite to knowledge about the risk and availability of carrier testing. Because of factors impeding the sharing of information in families and factors interfering with the decision about testing, the uptake for carrier testing in high‐risk families is often lower than expected. To minimize (time) constraints and maximize reproductive options, carrier testing before conception is advocated.