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 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 <5% have actually received clinical testing. Although patients with PAH and their at-risk relatives typically feel relatively uninformed about testing for mutations in BMPR2 and at times are confused about their testing status, they nonetheless report that it is easy to decide about testing.
Jones
Diana L
DL
Department of Human and Organizational Development, Vanderbilt University, Nashville, TN, USA.
Sandberg
Joanne C
JC
Rosenthal
Mary J
MJ
Saunders
Robert C
RC
Hannig
Vickie L
VL
Clayton
Ellen W
EW
D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D003710:Demography; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000523:psychology* / Q000706:statistics & numerical data; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation
C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
Respiration. 2007;74(2):123-32
17318011
Chest. 2004 Jul;126(1 Suppl):14S-34S
15249493
J Am Coll Cardiol. 2004 Jun 16;43(12 Suppl S):33S-39S
15194176
N Engl J Med. 2003 Aug 7;349(6):562-9
12904522
Clin Chest Med. 2001 Sep;22(3):459-75
11590841
Genet Test. 2007 Summer;11(2):187-92
17627392
Prev Med. 2004 Dec;39(6):1107-14
15539044
Hum Mutat. 2004 Jun;23(6):632
15146475
Am J Med Genet. 1995 Jul 3;57(3):385-92
7677139
Am Heart J. 2006 Sep;152(3):521-6
16923424
Clin Genet. 1999 Jun;55(6):419-30
10450858
Clin Chest Med. 2007 Mar;28(1):43-57, vii-viii
17338927