Document Type

Presentation

Publication Date

Fall 10-5-2026

Abstract

Background: Sickle cell disease (SCD) is one of the most common inherited genetic disorders worldwide and disproportionately affects individuals of African ancestry. Despite advances in genomic medicine, these populations remain underrepresented in genomic research, potentially limiting the equitable application of genetic discoveries. As genetic testing becomes increasingly integrated into clinical care, understanding patient and family perspectives is important for effective communication, informed decision-making, and implementation.

Objectives: To examine attitudes and preferences regarding genetic testing among adolescents with SCD and parents of children with SCD in order to inform communication strategies, informed consent, and patient- and family-centered care.

Methods: We analyzed survey data from the SCDGEN study (NCT04416178) involving 300 participants, including adolescents ages 13–18 with SCD (n = 100) and parents of children with SCD (n = 200). Participants completed a 15-item survey assessing attitudes, knowledge, preferences for information and disclosure, and concerns related to genetic testing.

Results: Participants were predominantly Black or African American (99.3%). Significant differences in attitudes toward genetic testing were observed between adolescents and parents. Parents reported greater familiarity with genetic testing, stronger preferences for sharing genetic information with children and extended family, and greater concern regarding potential implications of testing. Adolescents demonstrated lower scores across domains related to knowledge and positive attitudes, preferences for information and disclosure, and concerns and perceived risks. Group differences remained significant after accounting for within-family similarities and multiple comparisons. Composite measures demonstrated acceptable internal reliability (Cronbach’s α = 0.67–0.79).

Conclusions: Adolescents with SCD and parents of affected children differ in their attitudes and preferences regarding genetic testing. These findings highlight the importance of tailored, age-appropriate, family-centered communication that incorporates both adolescent and parent perspectives when discussing genetic testing, disclosure, and informed consent.

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