Population Carrier Screening: Psychological Impact


The psychological consequences of carrier screening for genetic conditions can include impacts on self‐efficacy, self‐concept, anxiety and understanding. Studies suggest that individuals’ willingness to undergo screening and their psychological responses to screening are variable, influenced by factors relating to programme design, presentation of information and the awareness and understanding of the condition/s for which screening is being offered. The integration of education and genetic counselling into screening programmes can facilitate informed decision‐making and positive adjustment to carrier status thus minimising the potential for negative psychosocial impacts. This will become increasingly important as advances in genetic testing technology broaden the scope of population‐based screening.

Key Concepts:

  • Limited public knowledge and awareness of genetic conditions poses challenges for individuals’ decision‐making regarding population‐based carrier screening.

  • The design of a screening programme can have an important influence on uptake of the genetic test.

  • Genetic counselling can play an integral role in facilitating informed decision‐making about screening and empowering individuals to adjust and adapt to a carrier result.

  • It is necessary to incorporate creative modes of educating individuals who are considering screening regarding the conditions for which testing is being offered.

Keywords: genetic carrier screening; cystic fibrosis; Tay–Sachs disease; sickle‐cell anaemia; fragile X syndrome; psychological psychosocial; test uptake; decision‐making; genetic counseling

Figure 1.

Potential psychological impacts of population genetic carrier screening.



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Further Reading

Godard B, Ten Kate L, Evers‐Kiebooms G and Ayme S (2003) Population genetic screening programs: principles, techniques, practices and policies. European Journal of Human Genetics 11(suppl. 2): S49–S87.

Lewis C, Skirton H and Jones R (2011) Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing? Journal of Genetic Counseling 20: 80–97.

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Archibald, Alison D, and Wilfond, Benjamin S(Jul 2011) Population Carrier Screening: Psychological Impact. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005641.pub2]