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Detection of Genetic and  Hereditary Disorders

Book Title: Molecular Diagnostics and Genomic Medicine: Transforming Healthcare with AI

Editors: Dr. Alok Kumar Srivastav, Dr. Priyanka Das, Dr. Babasaheb Ghodke, and Dr. Nikita Pathak

Chapter: 5

DOI: https://doi.org/10.59646/978-81-69297-97-4_5

Authors: Alok Kumar Srivastav, Priyanka Das, Babasaheb Ghodke, Nikita Pathak

Abstract

Molecular diagnostics has revolutionized the detection of inherited diseases by enabling precise identification of genetic variations underlying diverse disorders. The chapter explores fundamental mechanisms of genetic diseases, including loss- and gain-of-function mutations, genetic heterogeneity, and inheritance patterns. It examines advanced diagnostic technologies such as PCR, next-generation sequencing, chromosomal microarray analysis, and whole-genome sequencing for detecting single nucleotide variants, copy number changes, and structural abnormalities. Case studies, including Fragile X syndrome and von Hippel–Lindau disease, illustrate the molecular basis and diagnostic strategies for specific conditions. The role of hereditary cancer syndromes highlights the importance of multi-gene panel testing and risk assessment in clinical practice. Additionally, genetic counseling is emphasized as essential for interpreting results, assessing risk, and supporting patient decision-making. Together, these approaches enhance early diagnosis, personalized treatment, and preventive healthcare strategies.

Keywords: Inherited diseases, Genetic mutations, Next-generation sequencing, Genetic counseling, Hereditary cancer syndromes, Molecular diagnostics.

References

  1. Collins, F. S., Green, E. D., Guttmacher, A. E., & Guyer, M. S. (2003). A vision for the future of genomics research. Nature, 422, 835–847.
    https://doi.org/10.1038/nature01626
  2. Srivastav, A. K., Das, P., & Srivastava, A. K. (2024). Biotech and IoT: An Introduction Using Cloud-Driven Labs. Apress, Berkeley, CA.
    https://doi.org/10.1007/979-8-8688-0527-1
  3. Srivastav, D.A.K., Das, D.P. (2024). Emerging Technologies in Healthcare 4.0: AI and IoT Solutions. Apress, Berkeley, CA. https://doi.org/10.1007/979-8-8688-1014-5
  4. Goodwin, S., McPherson, J. D., & McCombie, W. R. (2016). Coming of age of next-generation sequencing technologies. Nature Reviews Genetics, 17, 333–351. https://doi.org/10.1038/nrg.2016.49
  5. Srivastav, A.K., & Das, P. (2025). Artificial Intelligence in the Production of Biotherapeutics: Principles, Practices and Standards (1st ed.). CRC Press. https://doi.org/10.1201/9781003624592
  6. Srivastav, D.A.K., Das, D.P. (2025). Nanobiotechnology: AI and IoT Applications and Emerging Implications. Apress, Berkeley, CA.
    https://doi.org/10.1007/979-8-8688-1775-5
  7. Metzker, M. L. (2010). Sequencing technologies—the next generation. Nature Reviews Genetics, 11, 31–46. https://doi.org/10.1038/nrg2626
  8. Srivastav, A.K., & Das, P. (2025). Introduction to Quality Systems. In: Artificial Intelligence in the Production of Biotherapeutics: Principles, Practices and Standards (1st ed.) (pp 138-164). CRC Press. https://doi.org/10.1201/9781003624592 -5
  9. Srivastav, D.A.K., Das, D.P. (2024). AI and IoT in Healthcare Operations Management. In Emerging Technologies in Healthcare 4.0: AI and IoT Solutions (pp. 269-291). Apress, Berkeley, CA. https://doi.org/10.1007/979-8-8688-1014-5_8
  10. Srivastav, D.A.K., Das, D.P. (2024). Future Perspectives and Challenges. In Emerging Technologies in Healthcare 4.0: AI and IoT Solutions (pp. 307-318). Apress, Berkeley, CA. https://doi.org/10.1007/979-8-8688-1014-5_10
  11. Srivastav, D.A.K., Das, D.P. (2024). Introduction to Healthcare 4.0. In Emerging Technologies in Healthcare 4.0: AI and IoT Solutions (pp. 1-22). Apress, Berkeley, CA. https://doi.org/10.1007/979-8-8688-1014-5_1
  12. Rahman, N. (2014). Realizing the promise of cancer predisposition genes. Nature, 505, 302–308. https://doi.org/10.1038/nature12981
  13. Srivastav, D.A.K., Das, D.P. (2024). Internet of Things in Healthcare. In Emerging Technologies in Healthcare 4.0: AI and IoT Solutions (pp. 59-113). Apress, Berkeley, CA. https://doi.org/10.1007/979-8-8688-1014-5_3
  14. Srivastav, A. K., Das, P., & Singha, T. (2024). AI and Biotech in Pharmaceutical Research: Synergies in Drug Discovery. Namya Press.
  15. Richards, S., Aziz, N., Bale, S., et al. (2015). Standards and guidelines for variant interpretation. Genetics in Medicine, 17(5), 405–424.
    https://doi.org/10.1038/gim.2015.30
  16. Srivastav, D.A.K., Das, D.P. (2025). Nanotechnology in Medicine. In: Nanobiotechnology: AI and IoT Applications and Emerging Implications (pp 303-311). Apress, Berkeley, CA. https://doi.org/10.1007/979-8-8688-1775-5_14