Conference: 2008 International PHA Conference and Scientific Sessions
Release Date: 06.20.2008
Presentation Type: Abstracts
Jones D.L., Sandberg J.C., Rosenthal M.J., Saunders R.C., Hannig V.L., Clayton E.W.
Vanderbilt University and High Point University, USA
BACKGROUND: Clinical genetic testing is available for mutations in BMPR2 associated with pulmonary arterial hypertension (PAH). This study assesses attitudes of individuals affected by or at risk for PAH regarding genetic testing
METHODS: Structured telephone interviews with 119 individuals affected by or at risk for PAH recruited from pulmonary hypertension clinic at Vanderbilt, Vanderbilt familial PAH registry, attendees at 2006 PHA meeting, and a local PAH support group.
RESULTS: 64% reported knowing little or nothing about BMPR2 testing. Predictors of greater self-assessed knowledge included having an affected family member and learning about BMPR2 testing from the internet. Most respondents reported that while they spent some time thinking about being tested for BMPR2, they had little trouble deciding. The most frequently cited reason for testing was to provide information for their children. About 20% said they had been tested, even though <5% have actually received clinical testing.
CONCLUSIONS: Although patients with PAH and their at-risk relatives typically feel relatively uninformed about testing for mutations in BMPR2 and are at times are confused about their testing status, they nonetheless report that it is easy to decide about testing.