主流の医療における希少疾患のゲノムシーケンシング技術:現在の実施状況

Michael P Mackley¹, Pankaj B Agrawal², Sara S Ali²

¹Division of Clinical & Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada. michael.mackley@mail.utoronto.ca.

European journal of human genetics : EJHG

|August 22, 2025

まとめ

ゲノム検査は医療においてあらゆる年齢層で稀な疾患を検出するためにますます使用されています主流医療への統合は複雑で患者の利益のために重要な医療制度の改革と労働力の適応が必要です

科学分野:

ゲノミクスとバイオインフォマティクス
医療の実施科学
医学遺伝学

背景:

ゲノムシーケンシング技術 (エクソーム,ゲノム,標的パネル) が主流の医療に入っています.
実施は,適用とグローバルな管轄区域によって大きく異なります.
ゲノム検査は歴史的に専門的な臨床遺伝学サービスに限られています

研究の目的:

ゲノム検査の現行実施を概要として紹介する.
ルーティン診断,集中治療,新生児のスクリーニング,キャリアスクリーニングを含む主要なアプリケーションをレビューする.
遺伝学以外の臨床医,遺伝カウンセラー,そして労働力開発への影響について議論する.

主な方法:

ゲノム検査の実施に関する既存の証拠と模範研究のレビュー
医療システムへの統合に関する議論
主流のゲノミクスのための労働力と教育上の検討.

主要な成果:

ゲノム検査は日常的な診断から集中治療や新生児のスクリーニングまで様々な臨床環境で実施されています
統合の成功には遺伝学の診療所以外にもサービスを拡大し遺伝学の専門でない臨床医を巻き込む必要があります
遺伝カウンセラーの役割は極めて重要です

結論:

ゲノム技術を主流の医療に統合することは複雑で医療制度を大きく変える必要があります
多様なアプローチは標準化された評価と管轄区間の共有学習の必要性を強調しています
ゲノム検査による患者とシステムの利益を確保するために実施科学は不可欠です

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