Perspectives on Cancer Genetic Testing,Prophylactic Surgery, and Insurance Discrimination
ABSTRACT & COMMENTARY
Synopsis: 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.
Source: Matloff ET, et al. J Clin Oncol 2000;18:2484-2492.
Matloff and associates have reported the findings of a questionnaire survey of the membership of the National Society of Genetic Counselors (NSGC) Special Interest Group (SIG) in Cancer. The purpose of their survey was 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). Of the 296 active members of the NSGC Cancer-SIG surveyed, 163 (55%) responded. Eight-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. Matloff et al concluded that 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. Furthermore, 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.
Comment by David M. Gershenson, MD
With the recent discovery of several cancer susceptibility genes and the dawning of the human genome project era, the world has become much more complex. The options and decisions facing all of us are expanding at a rapid rate. In the few years since the BRCA1/BRCA2 genes were discovered, we already have begun to learn valuable lessons. The initial predictions of cancer risk among BRCA1 mutation carriers were overestimated; this phenomenon was apparently related to the fact that high penetrance families were predominant in the early studies. Secondly, genetic testing became available before we had any idea how to manage women with a positive test. It is estimated that only about 50% of women to whom genetic testing for BRCA1/BRCA2 is recommended are taking this advice. Furthermore, we still don’t have any good data regarding the incidence of primary peritoneal cancer following prophylactic oophorectomy in these high-risk women. What are the psychological effects of such counseling and testing? Nevertheless, the findings of this survey study are extremely interesting. It is not particularly surprising that a high proportion of these genetic counselors would choose genetic testing or even prophylactic surgery if they were at high risk. However, the fact that 68% would not bill their insurance companies for genetic testing underscores the fact that federal legislation is needed to protect the public against genetic discrimination. With the completion of the human genome project, there is clearly more of an urgency for such legislation.
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