Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample.
OBJECTIVE
Despite the increasingly widespread availability of BRCA1 and BRCA2 genetic testing, little is known about the psychologic impact of such testing in the clinical setting. The objective of this study was to examine the long-term psychologic impact of receiving BRCA1/2 test results within a clinic-based testing program.


METHODS
The participants were 279 high-risk women who underwent genetic counseling and testing for alterations in the BRCA1/2 genes. At baseline (before genetic testing) and at 6 months after the disclosure of mutation status, we measured perceived risk for breast and ovarian cancer, cancer-specific distress, and general distress. We examined the impact of the test result on each of these outcomes at the 6-month follow-up. Analyses were conducted separately for probands and their relatives who were unaffected with cancer.


RESULTS
We found no effect of test result among affected probands. Among unaffected relatives, we found that participants who received definitive negative test results exhibited significant reductions in perceived risk and distress compared with participants who received positive test results. Importantly, relatives who received positive test results did not exhibit increased distress or perceived risk.


CONCLUSIONS
These results suggest that clinic-based BRCA1/2 testing can lead to psychologic benefits for individuals who receive negative test results. At 6 months after disclosure, those who receive positive or uninformative test results do not exhibit increased psychologic distress or perceived risk.
Schwartz
Marc D
MD
Department of Oncology, Georgetown University, and Lombardi Cancer Center, Washington, DC 20007, USA. schwartm@georgetown.edu
Peshkin
Beth N
BN
Hughes
Chanita
C
Main
David
D
Isaacs
Claudine
C
Lerman
Caryn
C
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics / Q000523:psychology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D012307:Risk Factors; D013315:Stress, Psychological