Precision medicine is based on giving the correct treatment to the right patient at the right time. For appropriate treatment, it mainly looks for genomic information. By enabling the precise sequencing of many genes simultaneously, Next-generation sequencing (NGS) technologies are potentially transforming medical practice. Although there is still much debate on the clinical efficacy, this technology is becoming more widespread in oncology. Modern artificial intelligence (AI), especially deep learning, holds promise for improving the accuracy of variant calling, improving variant prediction, and making electronic health record (EHR) systems in NGS-based diagnostics more user-friendly. The influence of NGS on cancer patients is examined in this research based on preliminary data. The present obstacles that prevent all patients with the genetic mutation associated with a particular therapy from receiving that therapy are also highlighted. Additionally, it examines the current level of AI in NGS-based genetics, emphasizing its limitations and potential future approaches. Lastly, the research focusses on the three primary ethical domains: informed consent, privacy, and outcome review.

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Next-Generation Sequencing of Human Genomes: Ethico-Legal Challenges with Regard to Data Security

  • Abhisikta Basu,
  • Keya De Mukhopadhyay

摘要

Precision medicine is based on giving the correct treatment to the right patient at the right time. For appropriate treatment, it mainly looks for genomic information. By enabling the precise sequencing of many genes simultaneously, Next-generation sequencing (NGS) technologies are potentially transforming medical practice. Although there is still much debate on the clinical efficacy, this technology is becoming more widespread in oncology. Modern artificial intelligence (AI), especially deep learning, holds promise for improving the accuracy of variant calling, improving variant prediction, and making electronic health record (EHR) systems in NGS-based diagnostics more user-friendly. The influence of NGS on cancer patients is examined in this research based on preliminary data. The present obstacles that prevent all patients with the genetic mutation associated with a particular therapy from receiving that therapy are also highlighted. Additionally, it examines the current level of AI in NGS-based genetics, emphasizing its limitations and potential future approaches. Lastly, the research focusses on the three primary ethical domains: informed consent, privacy, and outcome review.