What would you do? Specialists' perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination.
OBJECTIVE
To examine what cancer genetics specialists predict they would do personally if they were at 50% risk of carrying a mutation that predisposes to hereditary breast/ovarian cancer (BRCA1/BRCA2) and hereditary nonpolyposis colon cancer (HNPCC).


METHODS
Questionnaire survey of the membership of the National Society of Genetic Counselors (NSGC) Special Interest Group (SIG) in Cancer.


RESULTS
Of the 296 active members of the NSGC Cancer-SIG surveyed, 163 (55%) responded. Eighty-five percent predicted that if they had a 50% risk of carrying a BRCA1/BRCA2 mutation, they would pursue genetic testing. If they tested positive for a mutation at age 35, 25% predicted they would pursue prophylactic bilateral mastectomies and 68%, prophylactic oophorectomy. Ninety-one percent of respondents believe they would pursue genetic testing for HNPCC, and 17% would elect prophylactic colectomy; 54%, prophylactic hysterectomy; and 52%, prophylactic oophorectomy if they tested positive for a mutation. The majority (68%) would not bill their insurance companies for genetic testing because of fear of discrimination, and 26% would use an alias when undergoing testing. Fifty-seven percent of counselors would seek professional psychologic support to help them cope with the results of testing.


CONCLUSIONS
A large percentage of cancer genetic counseling providers predicted they would opt for prophylactic surgery at a young age if they carried a BRCA or HNPCC mutation, and most would seek professional psychologic assistance when undergoing testing. More than half of respondents would not bill their insurance companies for genetic testing, largely because of fear of genetic discrimination. The vast majority of those providers most familiar with cancer genetic testing and its associated medical, psychologic, and legal implications would still pursue genetic testing.
Matloff
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Department of Genetics, Yale School of Medicine, and Cancer Genetic Counseling Shared Resources, Yale Cancer Center, Yale University, New Haven, CT 06520-8028, USA. ellen.matloff@yale.edu
Shappell
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H
Brierley
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K
Bernhardt
B A
BA
McKinnon
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W
Peshkin
B N
BN
D000328:Adult; D000368:Aged; D001291:Attitude of Health Personnel; D001943:Breast Neoplasms / Q000191:economics / Q000235:genetics / Q000517:prevention & control; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000191:economics / Q000235:genetics / Q000517:prevention & control; D003657:Decision Making; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006306:Health Surveys; D006801:Humans; D019458:Insurance Coverage / Q000592:standards*; D008297:Male; D008408:Mastectomy; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000191:economics / Q000235:genetics / Q000517:prevention & control; D010052:Ovariectomy; D011287:Prejudice; D013315:Stress, Psychological; D014342:Truth Disclosure