Lauren M. Green
“This was a very controversial issue in 1998, and it still is to some extent in 2012,” said Matloff. Those who would choose not to have the prophylactic procedure listed confidence in surveillance (33.3%), negative impact of surgery on body image and sexuality (22.2%), and the fact that the surgery would not provide 100% protection against recurrence (10.6%).
On the question of whether to undergo BRCA testing if risk for the mutation was determined to be 50%, a large majority of respondents to both surveys said that they would choose to be tested: 84.5% of those responding to the 1998 survey and all but two of the respondents in 2012 (99.1%). Among the reasons 2012 respondents gave for choosing to be tested were that the information would aid in medical management, it would be helpful to their families, and it would lessen uncertainty; 55.6% of the affirmative respondents said they would choose to be tested for the 50% probability that they would test negative.
Matloff added that she did not present data on whether BRCA
mutation carriers would have their ovaries removed, because the percentage was high in both surveys and not statistically significant.
The researchers also found statistically significant differences in attitudes toward prophylactic surgery for Lynch syndrome between the two surveys. When asked if they would choose prophylactic colectomy if positive for a deleterious HNPCC
mutation at age 35, only 16 respondents to the 2012 survey (7.4%) said they would, compared with 27 people (17.4%) who answered affirmatively in 1998. Respondents in 2012 indicated confidence in colonoscopy, lowered quality of life and body image, and a willingness to postpone surgery until detection of a lesion or polyp as reasons for this choice.
However, when the same question was asked with regard to removal of the uterus or ovaries due to an elevated Lynch syndrome risk, participants were more inclined to respond affirmatively. Nearly 80% of 2012 respondents said they would have their uterus removed if found to carry the HNPCC
mutation at age 35, compared with 54.1% in 1998. Similarly, nearly 78% of respondents in 2012 indicated that they would have their ovaries removed versus 52.4% in 1998.
The survey also explored the issue of anonymity in genetic testing with respect to health insurance, and the results indicate that respondents are for the most part confident that billing their insurance company for testing would not be detrimental, with 94.9% of the 2012 respondents replying that they would, compared with just 23.9% in 1998.
“I find this particularly interesting because I’m not sure we would even think to ask these questions in 2012, but these were top of mind in 1998,” Matloff observed.
Matloff explained that gauging the perspectives of experts on issues related to genetic testing and possible interventions is especially important, insofar as the specialists surveyed “arguably have the most education and clinical experience in cancer genetic counseling and testing.”
“We now know that genetic testing is well established, as compared with 1998, and that more clinicians know about BRCA and Lynch syndrome,” said Matloff. She added that more clinicians are treating patients who carry mutations, and they can see both the natural progression of disease and also the stress inherent for people who test positive, as well as the stress among unaffected carriers, as they undergo surveillance, chemoprevention, and prophylactic surgery.
1. Matloff E, Bonadies D, Brierley K, Moyer A. Changes in specialists’ perspectives on cancer genetic testing, prophylactic surgery and insurance discrimination: then and now. Presented at the Annual Clinical Genetics Meeting of the American College of Medical Genetics and Genomics; March 19-23, 2013; Phoenix, AZ; Abstract 27.