Submit Your Paper:  Genomic Diagnostics and Genetic Counselling of Paediatric Cases in Culturally Diverse Settings

Pediatric rare diseases affect millions of children around the world, with an estimated 50-70% of rare conditions presenting in children. Majority of pediatric rare diseases have an underlying genetic etiology. Genomic advances are revolutionizing pediatric medicine by enabling earlier and more accurate identification of genetic and rare diseases. Pediatric genetic counselling plays an essential role in helping families interpret complex genomic data, navigate emotional and ethical challenges, and make informed medical and reproductive decisions. However, despite remarkable diagnostic progress, many children—especially those from culturally, linguistically, or socioeconomically diverse backgrounds—experience unequal access to genomic testing and counselling services. Differences in cultural beliefs, levels of health literacy, family dynamics, and societal values significantly influence decision-making - these disparities remain a critical barrier to achieving equitable and inclusive pediatric genomic healthcare.

This research topic aims to examine how pediatric genetic counselling and genomic diagnostics are delivered, experienced, and evaluated within diverse cultural contexts across the globe. The broader objective is to explore clinical, social, ethical, and policy dimensions that can inform equitable, family-centered models of care.

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