Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods

Abstract

Objective: To explore public perceptions of preconception and prenatal recessive carrier testing.

Design: Qualitative, descriptive.

Setting: Chat rooms located in four websites targeted to those who are pregnant or planning a pregnancy.

Participants: Anonymous comments (N = 1925) in online chat rooms.

Methods: The Centers for Disease Control and Prevention's (CDC) Analytic validity, Clinical validity, Clinical utility, Ethical, legal, social implications Model Process (ACCE) for evaluating a genetic test guided this deductive-inductive content analysis.

Results: Participant perceptions of the clinical utility of recessive carrier screening with universal carrier panels are multidimensional. Data analysis revealed four a priori deductive themes present in the data. Secondary inductive analysis produced 20 themes, which exceeded the scope of the CDC's ACCE Model Process for assessing the clinical utility of a genetic test.

Conclusion: Participant perceptions of carrier testing are important to consider in the clinical utility of carrier testing. Participant perceptions of clinical utility vary from those of the CDC's ACCE Model Process and should be considered in evaluation of the clinical utility of recessive carrier testing in the preconception and prenatal populations.

Keywords: carrier screening; chat room; genetic testing; preconception; pregnancy; prenatal; social media.