What patients and their relatives think about testing for BMPR2

Area of Science:

• Genetics
• Cardiology
• Public Health

Background:

• Clinical genetic testing for BMPR2 mutations is available for pulmonary arterial hypertension (PAH).
• Understanding patient perspectives on genetic testing is crucial for informed decision-making and genetic counseling.

Purpose of the Study:

• To assess the attitudes and knowledge of individuals affected by or at risk for PAH concerning BMPR2 genetic testing.
• To identify factors influencing knowledge and decision-making regarding genetic testing in PAH patients and their relatives.

Main Methods:

• Structured telephone interviews were conducted with 119 individuals with PAH or at risk.
• Participants were recruited from a pulmonary hypertension clinic, a familial PAH registry, and support groups.

Main Results:

• 64% reported minimal knowledge of BMPR2 testing.
• Having an affected family member and using the internet were linked to greater self-assessed knowledge.
• Most found the decision about testing easy, with a key motivation being to inform their children.

Conclusions:

• Patients with PAH and at-risk relatives often feel uninformed and confused about BMPR2 testing status.
• Despite knowledge gaps, individuals generally find the decision-making process for genetic testing straightforward.