International Journal of Applied Technology in Medical Sciences

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Vol. 4 No. 2 (2025): International Journal of Applied Technology in Medical Sciences

The role of genetic counselling in managing inherited disorders in neonates

  • Muhammad Ilyas
  • Saima Zaheer
  • Muhammad Aatif
  • Jamshaid Javed
Submitted
December 5, 2025
Published
2025-12-29

Abstract

The existence of inherited disorders among newborns creates substantial difficulties for perinatal healthcare organisations, leading to increased mortality rates and negative developmental outcomes, in addition to elevated morbidity. According to researchers, genetic counselling represents an essential interdisciplinary approach that enhances diagnostic processes and supports decision-making by working with families experiencing such conditions (Resta et al., 2006; Skirton and Patch, 2013). The management of inherited disorders in newborn infants through genetic counselling necessitates evaluation from various perspectives, including clinical administration, ethical considerations, and psychosocial challenges (Biesecker and Peters, 2001).Through a rigorous review of contemporary literature and clinical guidelines, this study delineates the responsibilities of genetic counsellors in risk assessment, interpretation of genomic data, emotional support, and interdisciplinary collaboration (Skirton and Patch, 2013). The research examines how genetic counselling contributes to early identification, presents various intervention strategies, and facilitates long-term family planning efforts (Ormond, 2013). Legal and ethical aspects are thoroughly analysed, with a focus on the informed consent process, cultural sensitivity, and the potential for genetic-based discrimination (Middleton, Morley and Parker, 2014). The article also addresses persistent challenges such as a shortage of trained professionals, inconsistency in practice standards, and complexities in genome interpretation (Abacan et al., 2019). Finally, it explores two emerging trends in the field: the integration of artificial intelligence in counselling tools and the expansion of genomic screening applications (Topol, 2019). This article advocates for the implementation of comprehensive genetic counselling services within standard neonatal care protocols, as these enhance clinical outcomes and support families in navigating complex genetic scenarios.

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