BRCA1/2 genetic testing in the community setting.
OBJECTIVE
BRCA1/2 genetic testing has been commercially available in the United States since 1996. Most published reports described BRCA1/2 testing as research studies at large academic centers, but less is known about testing in the community. This study evaluates the process and early outcomes of BRCA1/2 genetic testing as a clinical service in the community setting.


METHODS
Surveys were mailed to women in the United States whose health care providers ordered BRCA1/2 genetic testing from Myriad Genetic Laboratories from August 1998 through July 2000. Women tested at 149 large academic centers were excluded. Main outcome measures were demographic characteristics, recall of and satisfaction with the genetic testing process, and likelihood of pursuing cancer prevention strategies.


RESULTS
Among the 646 respondents, 414 (64%) had a personal history of cancer and 505 (78%) had at least one first-degree relative with breast and/or ovarian cancer. Most subjects (82%) recalled discussions of informed consent before testing (median time, 30 minutes). Genetic results were conveyed during an office visit (57%), by telephone (39%), or by mail (3%). More than 75% of respondents were "very satisfied with the counseling received." Cancer-free subjects with a germline mutation were more likely to consider prevention strategies after receiving the genetic results.


CONCLUSIONS
Virtually all respondents had a personal and/or family history of breast/ovarian cancer. Although pretest and posttest communications were not standardized, overall satisfaction with clinical breast cancer genetic testing was high. Additional follow-up will provide data on future cancer prevention practices and cancer incidence.
Chen
Wendy Y
WY
Department of Adult Oncology, Dana-Farber Cancer Institute, and Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA. wendy_chen@dfci.harvard.edu
Garber
Judy E
JE
Higham
Suzanne
S
Schneider
Katherine A
KA
Davis
Katie B
KB
Deffenbaugh
Amie M
AM
Frank
Thomas S
TS
Gelman
Rebecca S
RS
Li
Frederick P
FP
D000328:Adult; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control; D003376:Counseling; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008487:Medical History Taking; D008875:Middle Aged; D012307:Risk Factors; D011795:Surveys and Questionnaires; D014481:United States