VA研究におけるゲノム医療 (GenoVA)
2022年9月29日 更新者：Jason Vassy、Boston VA Research Institute, Inc.
プライマリケアにおける一般的な疾患の多遺伝子リスクスコアリングの実用的な無作為化試験
この試験では、6 つの疾患 (冠動脈疾患、心房細動、2 型糖尿病、結腸直腸がん、乳がん、または前立腺がん) の少なくとも 1 つの遺伝的リスクが高い患者における多遺伝子リスクスコア検査の臨床的有効性を測定します。 24 か月以上の流行病または発生病の診断までの時間。
調査の概要
詳細な説明
今日のゲノミクスで最も差し迫った論争の 1 つは、多遺伝子リスク スコア (PRS) の臨床的有用性です。 PRS は、単一遺伝子疾患を超えてゲノム リスク テストの範囲を広げ、数百または数百万の遺伝子座からの情報を組み合わせます。各遺伝子座は、一般的な複雑な疾患のリスクに対して非常に小さな効果サイズを持ちます。 その結果、冠動脈疾患 (CAD)、2 型糖尿病 (T2D)、乳がんなどの状態に対する感受性の継続的な定量的危険因子が得られます。 より希少な単一遺伝子疾患バリアントと比較して、PRS は、疾患のリスクが大幅に高い人口の大部分を特定し、証拠に基づく予防と管理を促進する能力において、公衆衛生とヘルスケアにとって大きな変革の可能性を秘めています。 さらに、それらの予測能力は、限られた数の遺伝子バリアントのみを含む以前の PRS と比較して大幅に改善されました。 しかし、PRS とさまざまな一般的な疾患との関連性は十分に確立されていますが (臨床的妥当性)、この情報が患者の健康転帰に与える潜在的な影響 (臨床的有用性) については議論があり、十分に研究されていません。
この研究では、PCP によってスクリーニングされ、予防戦略が確立されている 6 つの一般的な疾患 (CAD、AFib、T2D、結腸直腸がん、前立腺がん、乳がん) に対する PRS の使用による有効性と実施結果を調べます。 このトライアルには 2 つの目的があります。
目的 1: 無作為化比較試験 (RCT) を実施して、少なくとも 1 つの疾患の遺伝的リスクが高い患者における PRS の臨床的有効性を決定します。これは、臨床管理の変化 (プロセスの結果) と、流行している疾患または発生した疾患の診断までの時間によって測定されます (臨床結果）24か月以上。
目的 2: PRS に関するプライマリ ケア プロバイダー (PCP) の知識と信念、医療における患者の活性化、服薬アドヒアランス、およびコストを含む、優先度の高いゲノム医療の実施結果を測定します。
研究の種類
介入
入学 (予想される)
1076
段階
- 適用できない
連絡先と場所
このセクションには、調査を実施する担当者の連絡先の詳細と、この調査が実施されている場所に関する情報が記載されています。
研究連絡先
- 名前：Jason L. Vassy, MD, MPH, SM
- 電話番号：857-364-2561
- メール：jvassy@partners.org
研究場所
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Massachusetts
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Boston、Massachusetts、アメリカ、02130-4817
- 募集
- VA Boston Healthcare System
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コンタクト：
- Jason L. Vassy, MD, MPH, SM
- 電話番号：857-364-2561
- メール：jvassy@partners.org
-
-
参加基準
研究者は、適格基準と呼ばれる特定の説明に適合する人を探します。これらの基準のいくつかの例は、人の一般的な健康状態または以前の治療です。
適格基準
就学可能な年齢
50年～70年 (大人、高齢者)
健康ボランティアの受け入れ
いいえ
受講資格のある性別
全て
説明
包含基準:
- 入学時年齢50～70歳
- -次の状態の既知の診断はありません。最初に国際疾病分類（ICD）コードまたはその他の電子カルテ（EHR）データによって検証済みの方法を使用してスクリーニングされ、その後、募集中に潜在的な患者参加者で確認されました：冠動脈疾患、心房細動、 2型糖尿病、大腸がん、乳がん、前立腺がん
除外基準:
次の場合、患者は不適格となります。
- 関心のある6つの疾患のうち少なくとも1つの既知の診断を受けている
- 50歳未満または70歳以上
- 妊娠している
- 投獄されているか、施設に収容されている
研究計画
このセクションでは、研究がどのように設計され、研究が何を測定しているかなど、研究計画の詳細を提供します。
研究はどのように設計されていますか？
デザインの詳細
- 主な目的：ふるい分け
- 割り当て：ランダム化
- 介入モデル：並列代入
- マスキング：独身
武器と介入
参加者グループ / アーム |
介入・治療 |
|---|---|
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実験的：多遺伝子リスク スコア (PRS) - 高リスク層
PRS高アームの患者参加者とその医療提供者は、結果に関する教育リソースとともに、ベースラインでの高PRS結果を受け取ります。
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冠動脈疾患、心房細動、2 型糖尿病、結腸直腸がん、乳がん (女性のみ)、前立腺がん (男性のみ) に関する臨床検査改善修正条項 (CLIA) 認定検査室からの多遺伝子リスク スコア レポートが一緒に提供されます。患者レベルおよび医療提供者レベルの教材を使用します。
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アクティブコンパレータ：通常のケア (UC) - 高リスク層
UC-high アームの患者参加者とそのプロバイダーは、24 か月の観察期間の後に、結果に関する教育リソースとともに、高 PRS の結果を受け取ります。
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冠動脈疾患、心房細動、2 型糖尿病、結腸直腸がん、乳がん (女性のみ)、前立腺がん (男性のみ) に関する臨床検査改善修正条項 (CLIA) 認定検査室からの多遺伝子リスク スコア レポートが一緒に提供されます。患者レベルおよび医療提供者レベルの教材を使用します。
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実験的：多遺伝子リスク スコア (PRS) - 平均リスク層
PRS平均アームの患者参加者とそのプロバイダーは、結果に関する教育リソースとともに、ベースラインでの平均PRS結果を受け取ります。
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冠動脈疾患、心房細動、2 型糖尿病、結腸直腸がん、乳がん (女性のみ)、前立腺がん (男性のみ) に関する臨床検査改善修正条項 (CLIA) 認定検査室からの多遺伝子リスク スコア レポートが一緒に提供されます。患者レベルおよび医療提供者レベルの教材を使用します。
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アクティブコンパレータ：通常のケア (UC) - 平均リスク層
UC 平均アームの患者参加者とその医療提供者は、24 か月の観察期間の後に平均 PRS 結果と、結果に関する教育リソースを受け取ります。
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冠動脈疾患、心房細動、2 型糖尿病、結腸直腸がん、乳がん (女性のみ)、前立腺がん (男性のみ) に関する臨床検査改善修正条項 (CLIA) 認定検査室からの多遺伝子リスク スコア レポートが一緒に提供されます。患者レベルおよび医療提供者レベルの教材を使用します。
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この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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一般的な複合疾患の新しい診断までの時間
時間枠：入学後24ヶ月
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この研究の主な結果は、研究期間中の6つの標的条件の未診断の一般的なケースとインシデントケースの両方の診断までの時間です。
この複合結果には、専門家のカルテ レビューによって判断された、臨床的に重要な診断のみが含まれます。
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入学後24ヶ月
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二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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診断テスト
時間枠：入学後24ヶ月
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登録以来、患者参加者が6つの標的疾患の追加の診断検査を受けたという証拠: 2 型糖尿病 (ヘモグロビン A1c、血糖値)、結腸直腸がん (大腸内視鏡検査、S 状結腸内視鏡検査、糞便血液検査、CT コロノグラフィー)、乳がん (マンモグラフィー、乳房 MRI、乳房超音波検査、乳房生検)、および前立腺がん (PSA 検査、前立腺生検) ）。
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入学後24ヶ月
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患者の活性化
時間枠：ベースラインおよび登録後24か月
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13 項目からなる患者活性化尺度の短い形式を使用して、ベースラインおよび研究終了時の調査で評価された、ヘルスケアの意思決定およびプロセスに参加するための自己申告による理解、能力、および意欲 (Hibbard、Health Services Research 2005)。
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ベースラインおよび登録後24か月
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医療費
時間枠：入学後24ヶ月
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管理データとマイクロコスト計算アプローチの組み合わせを使用して、介入のコストと、登録後 24 か月間のその後の患者レベルの医療費を推定します。
介入を提供するために必要なインフラストラクチャと人員の見積もりは、研究から経験的に導き出されます。
医療費は、請求および管理データから抽出されます。
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入学後24ヶ月
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服薬遵守
時間枠：ベースラインおよび登録後24か月
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3項目のVoils Medication Adherence Survey（Voils、Medical Care、2012）を使用して、ベースラインおよび研究終了調査で評価された、処方された薬の服用の自己報告。
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ベースラインおよび登録後24か月
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その他の成果指標
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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PRS に関するプロバイダーの知識と信念
時間枠：入学後24ヶ月
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半構造化インタビューでは、PRS リスク情報の参加プロバイダーの理解と有用性に関する定性的データを収集します。
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入学後24ヶ月
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血圧
時間枠：ベースラインおよび登録後24か月
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登録前または登録日、および登録後24か月前または登録日の医療記録に記録された最新の収縮期および拡張期血圧値。
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ベースラインおよび登録後24か月
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ボディマス指数 (BMI)
時間枠：ベースラインおよび登録後24か月
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登録前または登録日、および登録後 24 か月前または登録日の医療記録に記録された最新の BMI 値。
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ベースラインおよび登録後24か月
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アスピリンの使用
時間枠：ベースラインおよび登録後24か月
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処方箋または市販のアスピリンの自己申告による使用は、ベースラインおよび研究終了時の調査で評価されます。
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ベースラインおよび登録後24か月
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身体活動
時間枠：ベースラインおよび登録後 24 か月。
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自己報告された身体活動は、身体活動の迅速な評価を使用して、ベースラインおよび研究終了調査で評価されます。
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ベースラインおよび登録後 24 か月。
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アルコール摂取量
時間枠：ベースラインおよび登録後24か月
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自己報告されたアルコールは、行動危険因子監視システムの尺度を使用して、ベースラインおよび研究終了調査で評価され、序数の 5 項目のリッカート応答 (「まったくない」から「非常に頻繁に」まで) として記録されます。
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ベースラインおよび登録後24か月
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加工肉の消費量
時間枠：ベースラインおよび登録後24か月
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ベースライン調査と調査終了調査で評価された加工肉の自己申告摂取量。National Cancer Institute Eating Habits Questionnaire の食品頻度の質問を使用して評価され、5 項目のリッカート応答 (「まったくない」から「非常に頻繁に」) の序数として記録されます。 .
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ベースラインおよび登録後24か月
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低比重リポ蛋白コレステロール (LDL-C)
時間枠：ベースラインおよび登録後24か月
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登録前または登録日、および登録後 24 か月前または登録日の医療記録に記録された最新の LDL-C 値。
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ベースラインおよび登録後24か月
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喫煙状況
時間枠：ベースラインおよび登録後24か月
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自己報告された喫煙状況は、行動危険因子監視システムの測定値を使用して、ベースラインおよび研究終了調査で評価されます。
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ベースラインおよび登録後24か月
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リスク軽減薬の処方
時間枠：入学後24ヶ月
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24 か月の観察期間中の関連する処方薬の変更。これには、医療記録のレビューから抽出された、降圧薬、コレステロール低下薬、抗凝固薬、抗血小板薬、5 α レダクターゼ阻害薬、選択的エストロゲン受容体モジュレーター、アロマターゼ阻害薬が含まれます。
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入学後24ヶ月
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健康状態と生活の質
時間枠：ベースラインおよび登録後24か月
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ベースライン調査 (VR-12) から収集されたデータによる決定
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ベースラインおよび登録後24か月
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協力者と研究者
ここでは、この調査に関係する人々や組織を見つけることができます。
捜査官
- 主任研究者：Jason L. Vassy, MD, MPH, SM、Harvard Medical School (HMS and HSDM)
出版物と役立つリンク
研究に関する情報を入力する責任者は、自発的にこれらの出版物を提供します。これらは、研究に関連するあらゆるものに関するものである可能性があります。
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- Christensen KD, Vassy JL, Phillips KA, Blout CL, Azzariti DR, Lu CY, Robinson JO, Lee K, Douglas MP, Yeh JM, Machini K, Stout NK, Rehm HL, McGuire AL, Green RC, Dukhovny D; MedSeq Project. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. Genet Med. 2018 Dec;20(12):1544-1553. doi: 10.1038/gim.2018.35. Epub 2018 Mar 22.
- Barnett PG. An improved set of standards for finding cost for cost-effectiveness analysis. Med Care. 2009 Jul;47(7 Suppl 1):S82-8. doi: 10.1097/MLR.0b013e31819e1f3f.
- Vassy JL, Shrader P, Yang Q, Liu T, Yesupriya A, Chang MH, Dowling NF, Ned RM, Dupuis J, Florez JC, Khoury MJ, Meigs JB. Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States. Metab Syndr Relat Disord. 2011 Dec;9(6):475-82. doi: 10.1089/met.2011.0021. Epub 2011 Aug 17.
- Vassy JL, Shrader P, Jonsson A, Fox CS, Lyssenko V, Isomaa B, Groop L, Meigs JB, Franks PW. Association between parental history of diabetes and type 2 diabetes genetic risk scores in the PPP-Botnia and Framingham Offspring Studies. Diabetes Res Clin Pract. 2011 Aug;93(2):e76-e79. doi: 10.1016/j.diabres.2011.04.013. Epub 2011 May 12.
- Vassy JL, Durant NH, Kabagambe EK, Carnethon MR, Rasmussen-Torvik LJ, Fornage M, Lewis CE, Siscovick DS, Meigs JB. A genotype risk score predicts type 2 diabetes from young adulthood: the CARDIA study. Diabetologia. 2012 Oct;55(10):2604-2612. doi: 10.1007/s00125-012-2637-7. Epub 2012 Jul 11.
- Vassy JL, Dasmahapatra P, Meigs JB, Schork NJ, Magnussen CG, Chen W, Raitakari OT, Pencina MJ, Jamal SM, Berenson GS, Goodman E. Genotype prediction of adult type 2 diabetes from adolescence in a multiracial population. Pediatrics. 2012 Nov;130(5):e1235-42. doi: 10.1542/peds.2012-1132. Epub 2012 Oct 15.
- Vassy JL, Hivert MF, Porneala B, Dauriz M, Florez JC, Dupuis J, Siscovick DS, Fornage M, Rasmussen-Torvik LJ, Bouchard C, Meigs JB. Polygenic type 2 diabetes prediction at the limit of common variant detection. Diabetes. 2014 Jun;63(6):2172-82. doi: 10.2337/db13-1663. Epub 2014 Feb 11. Erratum In: Diabetes. 2018 Apr 18;:
- Vassy JL, Stone A, Callaghan JT, Mendes M, Meyer LJ, Pratt VM, Przygodzki RM, Scheuner MT, Wang-Rodriguez J, Schichman SA; VHA Clinical Pharmacogenetics Subcommittee. Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee. Genet Med. 2019 Feb;21(2):382-390. doi: 10.1038/s41436-018-0057-x. Epub 2018 Jun 1.
- Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Erratum In: Am J Hum Genet. 2016 Jul 7;99(1):246.
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- Brunette CA, Miller SJ, Majahalme N, Hau C, MacMullen L, Advani S, Ludin SA, Zimolzak AJ, Vassy JL. Pragmatic Trials in Genomic Medicine: The Integrating Pharmacogenetics In Clinical Care (I-PICC) Study. Clin Transl Sci. 2020 Mar;13(2):381-390. doi: 10.1111/cts.12723. Epub 2019 Dec 18.
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便利なリンク
- This link references a poster presentation at the annual American Medical Informatics Association (AMIA) in 2017 by authors Majahalme N, Miller SJ, Zimolzak AJ, and Vassy JL.
- This link references the National Veterans Health Equity report for FY2013, published by the VA Office of Health Equity.
- This link references the Surveillance, Epidemiology, and End Results (SEER) database from November 2017, published by the NIH.
- This link references the National Diabetes Statistics Report from 2017, published by the Centers for Disease Control and Prevention (CDC).
- This link references a book entitled "Systematic Methods for Collecting and Analyzing Multidisciplinary Team Based Qualitative Data," authored by Carey JW and Gelaude D.
- This link references a book entitled "Applied Thematic Analysis," authored by Guest GS, MacQueen KM, and Namey EE.
研究記録日
これらの日付は、ClinicalTrials.gov への研究記録と要約結果の提出の進捗状況を追跡します。研究記録と報告された結果は、国立医学図書館 (NLM) によって審査され、公開 Web サイトに掲載される前に、特定の品質管理基準を満たしていることが確認されます。
主要日程の研究
研究開始 (実際)
2020年7月17日
一次修了 (予想される)
2025年9月30日
研究の完了 (予想される)
2025年9月30日
試験登録日
最初に提出
2020年3月31日
QC基準を満たした最初の提出物
2020年3月31日
最初の投稿 (実際)
2020年4月2日
学習記録の更新
投稿された最後の更新 (実際)
2022年10月3日
QC基準を満たした最後の更新が送信されました
2022年9月29日
最終確認日
2022年9月1日
詳しくは
本研究に関する用語
追加の関連 MeSH 用語
その他の研究ID番号
- 0594
個々の参加者データ (IPD) の計画
個々の参加者データ (IPD) を共有する予定はありますか?
はい
IPD プランの説明
安全な VA サーバーに格納され、治験審査委員会 (IRB) を持つ外部の研究者のみがアクセスできるデータ リポジトリを通じて、匿名化された個人レベルの試験データを共有します。
IPD 共有時間枠
一次結果発表時
IPD 共有アクセス基準
アクセスは IRB の承認が条件となります
IPD 共有サポート情報タイプ
- 研究プロトコル
- 統計分析計画 (SAP)
- インフォームド コンセント フォーム (ICF)
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
いいえ
米国FDA規制機器製品の研究
いいえ
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