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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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新生児のスクリーニングの拡大 ゲノム配列解析による早期対応可能な疾患

Alban Ziegler1, Carrie Koval-Burt1, Denise M Kay2

  • 1Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.

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|October 24, 2024
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まとめ

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科学分野:

  • ゲノミクス
  • 公衆衛生
  • 新生児医学

背景:

  • 伝統的な新生児スクリーニング (NBS) は,すべての遺伝疾患を特定する上で限界に直面しています.
  • 様々な人種や民族の集団におけるNBSのゲノム配列決定の実現可能性は十分に理解されていません.

研究 の 目的:

  • 多様なニューヨーク市の人口におけるゲノムによるNBSの受容性,実行可能性,結果を評価する.
  • 全新生児における希少疾患に対するゲノム検査 (GUARDIAN) の中間結果を報告する.

主な方法:

  • 156の早期発症遺伝疾患のゲノムシーケンシングと99の神経発達障害の選択スクリーニングを含む前向きな観察研究.
  • ニューヨークの様々な人種や民族の 新生児を登録しました
  • 親が報告した人種と民族のデータを収集した.

主要な成果:

  • NYCの多様性を反映した参加率で 72.0%を達成しました.
  • 配列決定の成功率は99.6%です
  • 3.7%の検診陽性率を報告し,現在NBSではない状態を特定しました.

結論:

  • 標的型ゲノム配列化は,多様な集団におけるNBSで実現可能である.
  • ゲノムによるNBSは,治療可能な追加の状態を特定することによって,既存のスクリーニングを補完することができます.
  • 一般化性と臨床効果を確認するには,さらなる研究が必要である.