title: The role of distress in uptake and response to predisposition genetic testing: the BMPR2 experience.
abstract: This study examines psychological determinants and effects of participating in genetic testing among persons diagnosed with or at risk for developing primary pulmonary arterial hypertension. Longitudinal data were drawn from orally administered surveys with 70 affected or at-risk individuals concerning their thoughts, feelings, and decision making about testing for mutations in BMPR2. Distress was measured by use of the Impact of Events Scale. Variations in tolerance for ambiguity were also examined. Although uptake of testing was low, as is common for incompletely penetrant mutations that lack clear therapeutic interventions, we found that those who participated in testing evidenced greater reduction in distress compared to those who had not participated in testing, irrespective of test result. No differences in tolerance for ambiguity by testing status were found. Participation in genetic testing, irrespective of test results, may be particularly beneficial to individuals who may have genetic mutations and who are experiencing high levels of distress.
authors.affiliation: Department of Human Services and Rehabilitation, Western Washington University, Bellingham, Washington 98225, USA. diana.jones@wwu.edu
authors.forename: Diana L
authors.initials: DL
authors.lastname: Jones
authors.forename: Ellen W
authors.initials: EW
authors.lastname: Clayton
mesh_terms: D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D065627:Familial Primary Pulmonary Hypertension; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics / Q000523:psychology*; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors; D013315:Stress, Psychological
chemical_list: C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
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