感染症におけるメタゲノム次世代配列化:臨床的応用,翻訳的課題,および将来の方向性

Ayman Elbehiry¹, Adil Abalkhail¹

¹Department of Public Health, College of Applied Medical Sciences, Qassim University, P.O. Box 6666, Buraydah 51452, Saudi Arabia.

Diagnostics (Basel, Switzerland)

|August 28, 2025

まとめ

メタゲノム次世代配列化 (mNGS) は,難しい感染症の広範な病原体検出を提供します. このレビューでは,mNGSのワークフロー,課題,および臨床統合の将来の方向性について詳細に述べています.

科学分野:

* 感染症診断
* 臨床微生物学
* ゲノミクスとバイオインフォマティクス

背景:

* 次世代メタゲノミクスシーケンシング (mNGS) は,臨床サンプルから直接,さまざまな病原体を仮説なしで検出することを可能にします.
* mNGSは,新しい,厳格な,多微生物感染を特定し,抗菌剤耐性 (AMR) 遺伝子を特徴づけることで,従来の方法を補完します.
* その可能性にもかかわらず,mNGSは,トランスレーションと採用の課題のために,臨床微生物学の不足に直面しています.

研究の目的:

* mNGSの臨床実施を阻害する翻訳上の課題をレビューする.
* サンプル処理から生物情報分析まで,mNGSのワークフローの包括的な概要を提供する.
* 倫理的,経済的,規制上の障壁を調査し,mNGS統合の将来の方向性を概説する.

主な方法:

* サンプル処理,宿主DNAの枯渇,シーケンシング,バイオインフォマティクスを含むmNGSのワークフローの包括的なレビュー.
* 汚染やヒトDNAの干渉などの変動源の分析
* 臨床試験 (MATESHIP,GRAIDS,DISQVER,NGS- CAP) の実用的な証拠の検討

主要な成果:

* mNGSの実施における主要な課題:ワークフローの変動性,汚染,宿主DNAの干渉,耐性遺伝子アノテーションの不一致.
* 臨床採用における倫理的,法的,プライバシー,経済的,規制上の障壁を調査した.
* 大規模試験データによる臨床的関連性が強調された.

結論:

* mNGSは感染症の診断を,特に重症治療や困難な症例において,大きく変化させる可能性を秘めています.
* ワークフローの標準化,バイオインフォマティクスの一貫性,規制上の障害への対処は,より広範な臨床採用に不可欠です.
* 将来の方向には,AI,マルチオミック,クラウド分析,そして,強化された診断と感染管理のためのポータブルシーケンシングが含まれます.

キーワード:

抗菌剤耐性の監視感染症診断次世代メタゲノムシーケンシング公衆衛生

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