What Patients and Their Relatives Think About Testing for BMPR2

Clinical genetic testing is available for mutations in BMPR2 associated with pulmonary arterial hypertension (PAH). The aim of this study is to assess attitudes of individuals affected by or at risk for PAH regarding genetic testing. Structured telephone interviews were conducted with 119 individual...

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Bibliographic Details
Published in:Journal of genetic counseling 2008-10, Vol.17 (5), p.452-458
Main Authors: Jones, Diana L., Sandberg, Joanne C., Rosenthal, Mary J., Saunders, Robert C., Hannig, Vickie L., Clayton, Ellen W.
Format: Article
Language:English
Subjects:
Attitudes
Biomedical and Life Sciences
Biomedicine
Bone Morphogenetic Protein Receptors, Type II - genetics
Clinical Psychology
Demography
Ethics
Female
Genetic counseling
Genetic disorders
Genetic predisposition testing
Genetic Predisposition to Disease
Genetic testing
Genetic Testing - psychology
Genetic Testing - utilization
Gynecology
Human Genetics
Humans
Hypertension, Pulmonary - genetics
Male
Middle Aged
Mutation
Original Research
Public Health
Pulmonary hypertension
Respiratory diseases
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Summary:Clinical genetic testing is available for mutations in BMPR2 associated with pulmonary arterial hypertension (PAH). The aim of this study is to assess attitudes of individuals affected by or at risk for PAH regarding genetic testing. Structured telephone interviews were conducted 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. Sixty-four percent 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 through 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
ISSN:1059-7700
1573-3599
DOI:10.1007/s10897-008-9172-1