Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome

Area of Science:

• Disability Studies
• Genetics
• Sociology

Background:

• Discussions on prenatal testing for Down syndrome often exclude the perspectives of individuals with Down syndrome.
• Understanding these perspectives is crucial for ethical and informed decision-making regarding genetic screening.

Purpose of the Study:

• To explore the views and experiences of individuals with Down syndrome concerning prenatal testing.
• To incorporate the lived experiences of individuals with Down syndrome into the discourse on prenatal diagnostics.

Main Methods:

• Qualitative research employing semi-structured interviews with eight individuals with Down syndrome.
• Analysis using Interpretative Phenomenological Analysis (IPA) and Foucauldian Discourse Analysis.

Main Results:

• Interpretative Phenomenological Analysis revealed themes of "a devalued condition and a valued life" and "a question of 'want?'".
• Foucauldian Discourse Analysis identified discursive practices of "social deviance" and the "tragedy and catastrophe" associated with Down syndrome births.

Conclusions:

• Individuals with Down syndrome offer valuable insights for prenatal testing discussions.
• Clinical practice should consider the information provided to prospective parents and the psychological impact of prenatal testing on individuals with Down syndrome.