冠動脈疾患の多遺伝子リスクスコアの評価と一致
Sarah A Abramowitz1,2, Kristin Boulier3, Karl Keat4
1Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia.
JAMA
|November 16, 2024
まとめ
冠動脈疾患 (CHD) のポリジェニックリスクスコア (PRS) は,集団のパフォーマンスが似ていますが,個人レベルでは大きく異なります. これは,臨床実務におけるリスクの不確実性を伝えるための改善された方法の必要性を強調しています.
科学分野:
- 遺伝学とゲノミクス
- 心血管疾患の研究
- 精密医療
背景:
- 冠動脈疾患 (CHD) のポリジェニックリスクスコア (PRS) は,臨床および商業的にますます使用されています.
- 既存のCHD PRSの個別レベルでの合意は,集団レベルでの同様のパフォーマンスではよく理解されていません.
研究 の 目的:
- 冠動脈疾患のポリジェニックリスクスコア (PRS) の個別レベルでの一致性を評価し,集団レベルでの比較可能なパフォーマンスを実証する.
- 個人の異なるPRSにおけるリスク予測の一貫性を特徴づける.
主な方法:
- 横断的な研究では,All of Us Research Program (AOU),Penn Medicine BioBank (PMBB),UCLA ATLAS Precision Health Biobankからのデータを分析した.
- 48 CHDのPRSを計算した. 個別レベルでの合意は,クラス内相関係数 (ICC) とLight κを用いて評価された.
- 集団レベルでのパフォーマンスは,Brierスコアと受信機オペレーター曲線の下の領域を比較することによって評価されました.
主要な成果:
- 48のPRSのうち46のPRSは,集団レベルでの予測が類似していたが,個人レベルでの合意は乏しかった (ICC=0.373).
- 20%の参加者は PRSのトップと最下位5%のリスクカテゴリーでスコアを上げました
- 異なるバイオバンクでの分析により,個々のレベルでの合意が欠け,異なる等価のスコアが得られました.
結論:
- 冠動脈疾患のPRSは,同様の集団のパフォーマンスで,個々のリスクの推定値に矛盾しています.
- 効果的な臨床使用には,個々のPRS予測に関連する不確実性を定量化して伝える方法が必要です.
- 患者のケアにおけるPRSの解釈と適用を洗練するためにさらなる研究が必要である.
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