Pulmonary arterial hypertension (PAH) is a rare disease, which can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, termed bone morphogenetic protein receptor 2 (BMPR2), 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 health care professionals, are increasingly faced with a range of questions regarding the need for, approaches to and the benefits and 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 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.
- Eichstaedt, C. A.
- Belge, C.
- Chung, W. K.
- Gräf, S.
- Grünig, E.
- Montani, D.
- Quarck, R.
- Tenorio-Castano, J. A.
- Soubrier, F.
- Trembath, R. C.
- Morrell, N. W.
