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<p>Next-generation sequencing (NGS)-based tests are being increasingly employed by clinicians for obtaining a genetic diagnosis in individuals and families with possible genetic disorders. However, there is a significant disparity in the genomic knowledge and skills of the clinicians employing these tests for care and management of families with rare genetic disorders. Through the current document, the Society for Indian Academy of Medical Genetics (SIAMG) aims to provide guidance and consideration in terms of the type of tests available, their appropriate applications, and result interpretation in order to make judicious use of these tests for rare disease diagnosis.</p>

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Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic Disorders

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年6月16日

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  • Anju Shukla,
  • Sameer Bhatia,
  • Mounika Endrakanti,
  • Deepti Gupta,
  • Amita Moirangthem,
  • Prajnya Ranganath,
  • Anju Shukla,
  • Sameer Bhatia,
  • Mounika Endrakanti,
  • Deepti Gupta,
  • Amita Moirangthem,
  • Prajnya Ranganath,
  • Neerja Gupta,
  • Ratna Dua Puri,
  • Madhulika Kabra

摘要

Next-generation sequencing (NGS)-based tests are being increasingly employed by clinicians for obtaining a genetic diagnosis in individuals and families with possible genetic disorders. However, there is a significant disparity in the genomic knowledge and skills of the clinicians employing these tests for care and management of families with rare genetic disorders. Through the current document, the Society for Indian Academy of Medical Genetics (SIAMG) aims to provide guidance and consideration in terms of the type of tests available, their appropriate applications, and result interpretation in order to make judicious use of these tests for rare disease diagnosis.