Identifying key factors for recurrence of genetic disorder: insights from Indian families with multiple affected children.

ABSTRACT: This study investigates the factors contributing to the recurrence of severe genetic conditions in multiple children of the same couple, focusing on a cohort of 26 families who had more than one child affected by the same genetic disorder. Conducted at a genetic clinic in India, the study employed a qualitative methodology guided by COREQ guidelines, using semi-structured interviews to explore the interplay of individual beliefs, healthcare provider practices, and systemic healthcare inefficiencies. The interviews were transcribed and analyzed using a combination of content analysis and grounded theory, which allowed for the identification of recurrent themes and emerging ideas. The study found that strong religious and cultural beliefs often led families to disregard medical advice, contr

SUBMITTER: Menon K 

PROVIDER: S-EPMC11950496 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature