Aside from the commonly observed BMPR2 gene (bone morphogenetic protein receptor 2), there are several other genes, each falling into distinct functional categories, that have been identified as contributors to pulmonary arterial hypertension development. This has led both specialized and general healthcare providers to encounter various inquiries about the necessity, methods, and potential outcomes of genetic testing for patients and their relatives. The International Consortium for Genetic Studies in Pulmonary Arterial Hypertension presents a consensus-driven set of guidelines for genetic counseling and outlines the current optimal practices for disease gene testing.
The paper includes two interesting tables:
- Main genes recommended to be included in genetic testing of pulmonary arterial hypertension (PAH) patients and their relatives
- Genetic counselling pathway for pulmonary arterial hypertension patients and their relatives.
Eichstaedt CA, Belge C, Chung WK, Gräf S, Grünig E, Montani D, Quarck R, Tenorio-Castano JA, Soubrier F, Trembath RC, Morrell NW; for PAH-ICON associated with the PVRI. “Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH”. Eur Respir J. 2023 Feb 23;61(2):2201471. doi: 10.1183/13993003.01471-2022. PMID: 36302552; PMCID: PMC9947314.
Full article available in English at this link on the European Respiratory Journal website
The French version can be found at this link on the Revue des Maladies Rares