Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.

Abstract

Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage. Genetic testingand screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis andmanagement of children living with SCD, and in the identification of carriers of SCT. People with SCT are for the most part asymptomatic and mainly identified as through genetic testing or when they have a child with SCD.This qualitative study explored perceptions towards genetic testing for SCD and SCT in Cameroon, Ghana, and Tanzania. The results show a general preference for newborn screening for SCD overprenatal andpremarital/preconception testing, primarily due to its simpler decision-making process and lower risk for stigmatization. Premarital testingfor SCT was perceived to be of low public health value, as couples are unlikely to alter their marriage plans despite being aware of their risk of having a child with SCD. Adolescents were identified as a more suitable population for SCT testing. In the case ofprenatal testing, major concerns were centred on cultural, religious, and personal values on pregnancy termination. The study revealed a gender dimension to SCD/SCT testing. Participants mentionnedthat women bear a heightened burden of decision making in SCD/SCT testing,face a higher risk of rejection by potential in-laws/partnersif the carriers of SCT, as well as the possibility of divorce if they have a child with SCD. The study highlights the complex cultural, ethical, religious and social dynamics surrounding genetic testing for SCDand emphasises the need for public educationon SCD andthe necessity of incorporating genetic and psychosocial counselling into SCD/SCT testingprograms.