title: Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing?
abstract: Receiving the results of genetic carrier testing may have an impact on the psychosocial health of the individual. Numerous studies have been conducted to assess the psychosocial effects of carrier status for a range of conditions. To systematically review research focused on the psychological and social impact of carrier testing on individuals in order to identify factors affecting the impact of carrier testing results, and discern areas where further research is needed. Twenty relevant papers meeting criteria for inclusion in this review were found. The main themes identified across these studies included: anxiety, guilt and stigmatization, effect on family relationships, effect on self image, active coping mechanisms and reproductive issues. Variables related to the psychosocial effect of carrier testing included whether the carrier has an affected child, mode of inheritance, genetic counseling, and life stage. A key finding concerns carriers who already have an affected child; they are more likely to experience guilt and self-blame, and change their reproductive plans compared to carriers without affected children. Additionally, some participants reported clinical features of the disorder for which they were being tested. Genetic counselors may erroneously assume that parents with affected children are aware of their own carrier status in the absence of testing, and they may offer inadequate support. Additionally, counselors should attempt to address patient misconceptions related to their health and carrier status.
authors.affiliation: Genetic Alliance UK, Unit 4D Leroy House, 436 Essex Road, London, UK. celine@geneticalliance.org.uk
authors.forename: Celine
authors.initials: C
authors.lastname: Lewis
authors.forename: Heather
authors.initials: H
authors.lastname: Skirton
authors.forename: Ray
authors.initials: R
authors.lastname: Jones
mesh_terms: D000223:Adaptation, Psychological; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans