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. 2025 Feb;16(1):57-71.
doi: 10.1007/s12687-024-00756-1. Epub 2024 Nov 30.

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

Kriti Menon  1 , Vani Agarwal  2   3
Affiliations

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

Kriti Menon et al. J Community Genet. 2025 Feb.

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, contributing to the recurrence of genetic conditions. Additionally, significant gaps in healthcare provider knowledge and inadequate reproductive counseling were identified as critical barriers to timely diagnosis and prevention of recurrence. Another major theme was the inherent complexities of genetic diseases and genetic testing, where variable expression of conditions, delayed symptom onset, and limitations of genetic tests themselves often prevented early diagnosis and intervention. This research highlights the need for improved genetic literacy among healthcare providers, culturally sensitive counseling, and better integration of genetic services into the broader healthcare system. By addressing these barriers, the risk of recurrence can be significantly reduced, improving patient outcomes and family well-being. This study is one of the few in India to analyze such factors and underscore the critical need for targeted interventions at multiple levels.

Keywords: Genetic counseling; Genetic testing; Rare disorders; Recessive disorders; Recurrence.

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Conflict of interest statement

Declarations. Ethical approval: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. Approval to conduct this research was obtained from the Institutional ethics committee- Biomedical research, Indraprastha Apollo Hospitals, New Delhi. EC application no: IAH-BMR-022/05–24. Competing interests: The authors declare no competing interests.

Figures

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Fig. 1
Themes impacting risk of recurrence, and relevant interventions
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