Eichstaedt, C.A., Belge, C., Chung, W.K. orcid.org/0000-0003-3438-5685 et al. (8 more authors) (2023) Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH. European Respiratory Journal, 61 (2). 2201471. ISSN 0903-1936
Abstract
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.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © The authors 2023. This version is distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. (http://creativecommons.org/licenses/by-nc/4.0/) For commercial reproduction rights and permissions contact permissions@ersnet.org |
Keywords: | Humans; Pulmonary Arterial Hypertension; Genetic Counseling; Hypertension, Pulmonary; Mutation; Familial Primary Pulmonary Hypertension; Genetic Testing; Bone Morphogenetic Protein Receptors, Type II; Genetic Predisposition to Disease |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Infection, Immunity and Cardiovascular Disease |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 09 Jun 2023 12:06 |
Last Modified: | 09 Jun 2023 12:06 |
Status: | Published |
Publisher: | European Respiratory Society (ERS) |
Refereed: | Yes |
Identification Number: | 10.1183/13993003.01471-2022 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:199647 |