Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.

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,

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Conflict of interest: C.A. Eichstaedt reports lecture fees from MSD, outside the submitted work; and has a patent “Gene panel specific for pulmonary hypertension and its uses” (European Patent ID: EP3507380) issued. C. Belge reports consulting fees, participation on advisory boards and lecture honoraria from Janssen and MSD/Bayer; travel support from MSD/Bayer, outside the submitted work. W.K. Chung reports scientific advisory board participation with Regeneron Genetics Center, outside the submitted work. E. Grünig reports grants from Actelion, Bayer, GSK, United Therapeutics, Novartis, Bellerophon, OMT, Pfizer and REATA; lecture fees and consultancy fees from Actelion, Bayer/MSD and GSK; travel support from Janssen; advisory board participation with MSD and Ferrer, outside the submitted work; has a patent “Gene panel specific for pulmonary hypertension and its uses” (European Patent ID: EP3507380) issued; and has also served in leadership roles for ADue and pH e.V., outside the submitted work. D. Montani reports grants from Acceleron, Janssen and Merck; consulting fees from Acceleron; lecture honoraria from Bayer, Janssen and Merck, outside the submitted work. R.C. Trembath reports lecture fees from Clinical Cases, outside the submitted work. N.W. Morrell reports employment and stock/stock options from Centessa Pharmaceuticals. All other authors have nothing to disclose.