Why the study?
Clinicians increasingly face questions regarding the need for, approaches to, and benefits or risks of genetic testing for PAH patients and related family members as multiple predisposing genes are recognized.
This consensus statement standardizes the application of genetic testing in pulmonary arterial hypertension, emphasizing next-generation panel sequencing and comprehensive family screening.
Clinicians should now offer genetic counselling and NGS panels to PAH patients; extends prior evidence by standardizing a minimum 12-gene panel for diagnosis.
(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.
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Eichstaedt et al. (2022) studied Pulmonary arterial hypertension. Genetic counselling and testing was evaluated. Genetic counselling and next-generation sequencing panels including BMPR2 and at least 11 other strong-evidence genes are recommended to optimize diagnosis and clinical management in patients with pulmonary arterial hypertension.
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