TABLE 2.

Utility of genetic testing in pulmonary arterial hypertension (PAH)

Prognostic information	Provides more accurate prognostic information
	Identifies conditions with associated features (TBX4, ENG, ACVLR1) to tailor care
Personalised treatment	More precise classification and tailored treatments based on genetic mutations (e.g. EIF2AK4)
Familial risk assessment	Clarifies risk for family members (both increased and not increased risk)
	Informs family planning and monitoring strategies
Early diagnosis of asymptomatic family members	Identifies heritable forms of PAH
	Enables early detection and intervention, potentially improving disease outcomes
Research and clinical trials	Enhances understanding of PAH pathogenesis for future genetic therapies
	May allow for patient stratification of responders and adverse outcomes in clinical trials