Abstract

The aim of this Grounded Theory study was to assess the motivation and outcomes of carrier testing. Qualitative semi-structured interviews were conducted with participants who had undergone carrier testing for autosomal recessive, X-linked conditions and chromosome translocations. Reproductive empowerment emerged as the central phenomenon. A desire to manage risk was the main motivator for carrier testing, and information gathering the main facilitator. Participants were then able to make informed decisions, regain control over their reproductive risk and pass on information to family members. These findings support a patient-reported outcome measure of empowerment currently being developed for genetic services.

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