Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH - Institut de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition Accéder directement au contenu
Article Dans Une Revue European Respiratory Journal Année : 2023

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

Christina Eichstaedt
  • Fonction : Auteur
Catharina Belge
  • Fonction : Auteur
Wendy Chung
Stefan Gräf
Ekkehard Grünig
  • Fonction : Auteur
David Montani
Rozenn Quarck
Jair Tenorio-Castano
  • Fonction : Auteur
Richard Trembath
  • Fonction : Auteur
Nicholas Morrell
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-04073486 , version 1 (18-04-2023)

Identifiants

Citer

Christina Eichstaedt, Catharina Belge, Wendy Chung, Stefan Gräf, Ekkehard Grünig, et al.. 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, 2023, 61 (2), pp.2201471. ⟨10.1183/13993003.01471-2022⟩. ⟨hal-04073486⟩
7 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More