
美國醫學遺傳學和基因組學學會(ACMG):APOE基因檢測不應作為阿爾茨海默病的預測性檢測
美國醫學遺傳學和基因組學學會關于基因檢測的建議中給出了五條建議:
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1. Do not order a duplicate genetic test for an inherited condition unless there is uncertainty about the validity of the existing test result.?
除非懷疑結果的有效性,否則不要重復針對同一個遺傳特性購買基因檢測。
2. Do not order APOE genetic testing as a predictive test for Alzheimer disease.?
不要購買APOE基因檢測,作為阿爾茲海默癥的風險預測。
3. Do not order MTHFR genetic testing for the risk assessment of hereditary thrombophilia.?
不要購買MTHFR基因檢測來評估遺傳性血栓的風險。
4. Do not order HFE genetic testing for a patient without iron overload or a family history of HFE-associated hereditary hemochromatosis.?
沒有離子過量或者HEF相關的血色索沉著病家族史的人,不要購買HEF基因檢測。
5. Do not order exome or genome sequencing before obtaining informed consent that includes the possibility of secondary findings.
如果知情同意書中沒有包括二次發現的可能,不要購買外顯子或者全基因組測序。
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全文鏈接:https://www.acmg.net/docs/ACMG_ChoosingWisely_Final.pdf
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謝謝 @BioStar 提供
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1. Do not order a duplicate genetic test for an inherited condition unless there is uncertainty about the validity of the existing test result.?
除非懷疑結果的有效性,否則不要重復針對同一個遺傳特性購買基因檢測。
2. Do not order APOE genetic testing as a predictive test for Alzheimer disease.?
不要購買APOE基因檢測,作為阿爾茲海默癥的風險預測。
3. Do not order MTHFR genetic testing for the risk assessment of hereditary thrombophilia.?
不要購買MTHFR基因檢測來評估遺傳性血栓的風險。
4. Do not order HFE genetic testing for a patient without iron overload or a family history of HFE-associated hereditary hemochromatosis.?
沒有離子過量或者HEF相關的血色索沉著病家族史的人,不要購買HEF基因檢測。
5. Do not order exome or genome sequencing before obtaining informed consent that includes the possibility of secondary findings.
如果知情同意書中沒有包括二次發現的可能,不要購買外顯子或者全基因組測序。
?
全文鏈接:https://www.acmg.net/docs/ACMG_ChoosingWisely_Final.pdf
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謝謝 @BioStar 提供
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