Application of a framework to guide genetic testing communication across clinical indications.
Application of a framework to guide genetic testing communication across clinical indications.
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DOI：
10.1186/s13073-021-00887-x
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发表时间：
2021-04-29
期刊：
影响因子：
12.3
通讯作者：
Buchanan AH
中科院分区：
文献类型：
--
作者：
Hallquist MLG;Tricou EP;Ormond KE;Savatt JM;Coughlin CR 2nd;Faucett WA;Hercher L;Levy HP;O'Daniel JM;Peay HL;Stosic M;Smith M;Uhlmann WR;Wand H;Wain KE;Buchanan AH
遗传信息在整个医疗保健领域越来越重要。传统的遗传咨询 (GC) 可能会限制遗传信息的获取，并且可能会超出某些个人所需的信息和支持。我们报告了一个框架的应用和临床意义，以持续整合对患者最有用的遗传学专业知识。临床基因组资源 (ClinGen) 同意和披露建议 (CADRe) 工作组设计了用于指导基因测试前后沟通的细则。使用一套标准的测试指征，测试前和测试后的评分标准适用于 40 种遗传条件或具有不同特征的测试模式，包括外显率水平的变异性、临床可操作性以及支持基因与疾病关系的证据。最终的沟通建议经小组协商一致达成。针对 478 个独特的条件指示或测试指示对确定了通信建议。对于一半的条件和适应症（238/478），有针对性的讨论（中等沟通深度）是测试前和测试后对话的建议起始沟通水平。建议对没有个人病史的个体进行成人发病的神经退行性疾病的预测试，并在基因检测显示分子诊断时对大多数情况进行后测试，因为这些情况可能具有更高的复杂性和不确定性。对于更直接的病症和适应症（例如家族性高胆固醇血症；家族变异测试），建议采用简短的沟通方法。 CADRe 建议为临床医生确定测试前和测试后沟通的深度提供指导，从战略上使患者的预期需求与起始沟通方法保持一致。对于许多测试和适应症，建议进行较短的有针对性的讨论或简短的沟通。较长的传统GC咨询将保留给情况更复杂和不确定的患者，在这些情况下，详细的信息、教育和心理支持可能是最有益的。 CADRe 通信框架的未来研究对于确定 CADRe 知情护理是否支持优质患者体验，同时改善整个医疗保健中遗传信息的获取至关重要。在线版本包含可在 10.1186/s13073-021-00887-x 获取的补充材料。
Genetic information is increasingly relevant across healthcare. Traditional genetic counseling (GC) may limit access to genetic information and may be more information and support than some individuals need. We report on the application and clinical implications of a framework to consistently integrate genetics expertise where it is most useful to patients. The Clinical Genome Resource’s (ClinGen) Consent and Disclosure Recommendations (CADRe) workgroup designed rubrics to guide pre- and post-genetic test communication. Using a standard set of testing indications, pre- and post-test rubrics were applied to 40 genetic conditions or testing modalities with diverse features, including variability in levels of penetrance, clinical actionability, and evidence supporting a gene-disease relationship. Final communication recommendations were reached by group consensus. Communication recommendations were determined for 478 unique condition-indication or testing-indication pairs. For half of the conditions and indications (238/478), targeted discussions (moderate communication depth) were the recommended starting communication level for pre- and post-test conversations. Traditional GC was recommended pre-test for adult-onset neurodegenerative conditions for individuals with no personal history and post-test for most conditions when genetic testing revealed a molecular diagnosis as these situations are likely higher in complexity and uncertainty. A brief communication approach was recommended for more straightforward conditions and indications (e.g., familial hypercholesterolemia; familial variant testing). The CADRe recommendations provide guidance for clinicians in determining the depth of pre- and post-test communication, strategically aligning the anticipated needs of patients with the starting communication approach. Shorter targeted discussions or brief communications are suggested for many tests and indications. Longer traditional GC consultations would be reserved for patients with more complex and uncertain situations where detailed information, education, and psychological support can be most beneficial. Future studies of the CADRe communication framework will be essential for determining if CADRe-informed care supports quality patient experience while improving access to genetic information across healthcare. The online version contains supplementary material available at 10.1186/s13073-021-00887-x.
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影响因子：
45.3
作者：
Hadley, DW;Jenkins, JF;Palmer, CGS
通讯作者：
Palmer, CGS
DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
7.4
作者：
Musunuru, Kiran;Hershberger, Ray E.;Sturm, Amy C.
通讯作者：
Sturm, Amy C.
影响因子：
6.7
作者：
Gonsalves, Stephen G.;Dirksen, Robert T.;Biesecker, Leslie G.
通讯作者：
Biesecker, Leslie G.
影响因子：
1.9
作者：
Hoskovec, Jennifer M.;Bennett, R. L.;Wicklund, C. A.
通讯作者：
Wicklund, C. A.