Genomic Diagnostics and Genetic Counselling of Pediatric 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. Specifically, we seek to address the following overarching questions: How can healthcare systems incorporate cultural competence into pediatric genomic counselling? What innovative models enhance understanding and trust among families from different cultural backgrounds? What ethical frameworks are needed to ensure justice and inclusivity in pediatric genomic diagnostics? How can genetic counselling help in achieving these?To foster an inclusive and global evidence base, this collection of thematic articles for Frontiers in Pediatrics welcome contributions from clinicians, genetic counsellors, researchers, bioethicists, psychologists, public health professionals, and policymakers. Through collaboration across countries and disciplines, this research topic aims to advance the global dialogue on equitable pediatric genomic care. To gather further insights into culturally attuned genomic pediatrics, we welcome articles that address, but are not limited to, the following themes:• Culturally responsive frameworks for pediatric genetic counselling and family communication• Implementation of genomic diagnostics in low-resource, rural, migrant, or indigenous communities• Communication of genetic uncertainty, consent, and secondary findings across cultural and linguistic divides• Family decision-making, parental expectations, and child participation in diverse social settings• Ethical, legal, and social implications of foetal genomic testing in varied cultural contexts• Integrating digital tools, policy mechanisms, and workforce training to support inclusive genomic services• Community engagement and co-design approaches to strengthen public trust in genomic medicine • The system barriers that impeded timely genetic diagnosis and approaches to effectively address these barriers• What models of genetic counselling best incorporate cultural beliefs, linguistic barriers, family and community dynamics?• Which innovative approaches help foster trust and understanding among families from diverse cultural backgrounds?This research topic will explore how pediatric genetic counselling and genomic diagnostics are delivered and evaluated across varied cultural and healthcare settings. The overreaching goal is to illuminate the clinical, social, ethical, and policy considerations necessary to build equitable, family and community centered models of genomic care. Topic editors: Qurratulain Hasan, Sucheta Bhatt, Preetha J Shetty, CATHERINE LYNN T. SILAO Source: https://www.frontiersin.org/research-topics/81221/genomic-diagnostics-and-genetic-counselling-of-pediatric-cases-in-culturally-diverse-settings