TY - JOUR
T1 - Genetic counselling and testing in pulmonary arterial hypertension
T2 - a consensus statement on behalf of the International Consortium for Genetic Studies in PAH
AU - PAH-ICON
AU - Eichstaedt, Christina A.
AU - Belge, Catharina
AU - Chung, Wendy K.
AU - Gräf, Stefan
AU - Grünig, Ekkehard
AU - Montani, David
AU - Quarck, Rozenn
AU - Tenorio-Castano, Jair A.
AU - Soubrier, Florent
AU - Trembath, Richard C.
AU - Morrell, Nicholas W.
AU - Aldred, Micheala A.
AU - Archer, Stephen L.
AU - Austin, Eric D.
AU - Badagliacca, Roberto
AU - Balanchandar, Srimmitha
AU - Barberà, Joan Albert
AU - Benza, Raymond L.
AU - Berger, Rolf M.F.
AU - Bogaard, Harm Jan
AU - Bonnet, Sébastien
AU - Boomars, Karin A.
AU - Boucherat, Olivier
AU - Chakinala, Murali M.
AU - Condliffe, Robin
AU - Damico, Rachel Lynn
AU - Delcroix, Marion
AU - Desai, Ankit A.
AU - Doboszynska, Anna
AU - Dooijes, Dennis
AU - Elliott, C. Greg
AU - Eyries, Melanie
AU - Subías, Maria Pilar Escribano
AU - Gall, Henning
AU - García-Aranda, Beatriz
AU - Ghio, Stefano
AU - Ghofrani, Hossein Ardeschir
AU - Hamid, Rizwan
AU - Hassoun, Paul M.
AU - Hemnes, Anna R.
AU - Hinderhofer, Katrin
AU - Houweling, Arjan C.
AU - Howard, Luke S.
AU - Humbert, Marc
AU - Kiely, David G.
AU - Kovacs, Gabor
AU - Langleben, David
AU - Lapunzina, Pablo
AU - Lawrie, Allan
AU - Loyd, Jim E.
AU - Machado, Rajiv D.
AU - Manzi, Giovanna
AU - Martin, Jennifer M.
AU - Michelakis, Evangelos D.
AU - Moledina, Shahin
AU - Newman, John H.
AU - Nichols, William C.
AU - Parra, Nuria Ochoa
AU - Olschewski, Andrea
AU - Olschewski, Horst
AU - Pandya, Dviya
AU - Papa, Silvia
AU - Pauciulo, Mike W.
AU - Paulin, Roxane
AU - Poscia, Roberto
AU - Prapa, Martina
AU - Provencher, Steeve
AU - Rabinovitch, Marlene
AU - Scelsi, Laura
AU - Seeger, Werner
AU - Shaukat, Memoona
AU - Sommer, Natascha
AU - Southgate, Laura
AU - Stewart, Duncan J.
AU - Sweatt, Andrew
AU - Swietlik, Emilia M.
AU - Tiwari, Hemant K.
AU - Torre, Roberto
AU - Treacy, Carmen
AU - Tura-Ceide, Olga
AU - Vizza, Carmine Dario
AU - Noordegraaf, Anton Vonk
AU - Welch, Carrie
AU - Wilkins, Martin R.
AU - Zamanian, Roham T.
AU - Zateyshchikov, Dmitry
N1 - Publisher Copyright:
Copyright ©The authors 2023.
PY - 2023/2/1
Y1 - 2023/2/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85148773368&partnerID=8YFLogxK
U2 - 10.1183/13993003.01471-2022
DO - 10.1183/13993003.01471-2022
M3 - Article
C2 - 36302552
AN - SCOPUS:85148773368
SN - 0903-1936
VL - 61
JO - European Respiratory Journal
JF - European Respiratory Journal
IS - 2
M1 - 2201471
ER -