Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
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DOI：
10.1183/13993003.01471-2022
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发表时间：
2023-03
影响因子：
24.3
通讯作者：
Morrell, Nicholas W.
中科院分区：
文献类型：
--
作者：
Eichstaedt, Christina A.;Belge, Catharina;Chung, Wendy K.;Graef, Stefan;Gruenig, Ekkehard;Montani, David;Quarck, Rozenn;Tenorio-Castano, Jair A.;Soubrier, Florent;Trembath, Richard C.;Morrell, Nicholas W.
肺动脉高压（PAH）是一种罕见疾病，可能由（可能）致病性种系基因组变异引起。除了最常见的疾病基因 BMPR2（骨形态发生蛋白受体 2）外，现在还已知一些基因（其中一些属于不同的功能类别）容易导致 PAH 的发生。因此，专科和非专科临床医生以及医疗保健专业人员越来越多地面临一系列关于对 PAH 患者和/或相关家庭成员进行基因检测的必要性、方法以及益处/风险的问题。我们提供基于共识的方法来建议遗传咨询和评估当前疾病基因检测的最佳实践。我们提供了一个框架和通过遗传咨询过程向患者和亲属提供的信息类型，并描述了目前已知的待分析的疾病致病基因。将分子遗传学检测纳入 PAH 患者管理方案的好处包括识别被其他诊断方法错误分类的个体、优化表型特征以聚合结果数据（包括在临床试验中），以及重要的是通过级联筛查、检测健康的因果变异携带者，并对其进行定期评估。应为特发性、厌食症引起的、先天性心脏病相关的和遗传性 PAH 以及肺静脉闭塞性疾病患者提供遗传咨询和基因组检测，包括该病症的所有疾病基因 https://bit.ly/3ga3HEc
Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits/risks of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. Benefits of including molecular genetic testing within the management protocol of patients with PAH include the identification of individuals misclassified by other diagnostic approaches, the optimisation of phenotypic characterisation for aggregation of outcome data, including in clinical trials, and importantly through cascade screening, the detection of healthy causal variant carriers, to whom regular assessment should be offered. Idiopathic, anorexigen-induced, congenital heart disease-associated and heritable PAH, and pulmonary veno-occlusive disease patients should be offered genetic counselling and testing with a gene panel including all disease genes for the condition https://bit.ly/3ga3HEc
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影响因子：
5.8
作者：
Pfarr N;Fischer C;Ehlken N;Becker-Grünig T;López-González V;Gorenflo M;Hager A;Hinderhofer K;Miera O;Nagel C;Schranz D;Grünig E
通讯作者：
Grünig E
影响因子：
30.8
作者：
Eyries, Melanie;Montani, David;Soubrier, Florent
通讯作者：
Soubrier, Florent
影响因子：
5.8
作者：
Eichstaedt CA;Song J;Benjamin N;Harutyunova S;Fischer C;Grünig E;Hinderhofer K
通讯作者：
Hinderhofer K
影响因子：
168.9
作者：
Berger, Rolf M. F.;Beghetti, Maurice;Humpl, Tilman;Raskob, Gary E.;Ivy, D. Dunbar;Jing, Zhi-Cheng;Bonnet, Damien;Schulze-Neick, Ingram;Barst, Robyn J.
通讯作者：
Barst, Robyn J.
影响因子：
9.6
作者：
Best, D. Hunter;Sumner, Kelli L.;Elliott, C. Gregory
通讯作者：
Elliott, C. Gregory