A recent article in OncLive published in May of 2013 and entitled Genetic Experts Views On Testing/ Prophylactic Surgery only hit the tip of the iceberg in respect to hereditary cancers and patient views.
Cited within the article was, “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 HNPCCmutation 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 HNPCCmutation 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.”
Those of us with Lynch syndrome do indicate a confidence in colonoscopy and have personally experienced the removal of polyps and lesions as well as of recently, due to advocacy efforts, have the opportunity to see the positive effects within others and the resulting cancer prevention. As well, in the past fifteen years of advanced technological advances in gastroenterological screening, more polyps and lesions are discovered. The need for resection, though a choice, is not all that necessary anymore.
We have had fifteen years to see others live as a result of the removal of polyps and lesions before they can develop into cancers. This exposure has been even more enhanced with social networking and advocacy efforts. Once a community of individuals which remained in the closet, our families are coming out, realizing our condition is somewhat common and not rare, but more underdiagnosed. Hopes for longevity are enhanced with accelerated technological advances in science for care. With effective intervention, most don’t see a need to engage in resection until a cancer is realized, as most are found in the earliest of stages, with regular cancer screenings. With great medical teams and evolving technology, the uncertainty is alleviated and trust is established.
However, the situation is far different with the women’s cancers of Lynch syndrome. Despite all the studies and research, there is yet to be released to the medical profession a good test to detect endometrial and ovarian cancers. Johns Hopkins may have recently discovered a good test, but it is a while before it will reach the marketplace and to those of us who are desperate for it.
As a result, there are no standards of care established to screen women for endometrial, ovarian or breast cancers of the Lynch syndrome. The thought is standards cannot be developed because there is no scientific evidence current screening tests are effective. Therefore, women have little other option for protection of themselves and in opting for life, most do undergo resection of the uterus, the ovaries and if a Lynch subset of breast cancer is in existence or breast cancer is prevalent in the family, sometimes, the breast.
Ob-Gyns are not up to par on the diagnosis and the management and care of those with the Lynch syndrome. They are uncomfortable with anything involving an organ outside their realm of expertise. Though comfortable with testing women for BRCA1 and BRCA2 and knowledgable about that condition, many are reluctant to diagnose and care for women with Lynch syndrome.
Also explored in this article was 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.
The concensus regarding anonymity in genetic testing with respect to health insurance would undoubtedly be true as most the individuals tolled were diagnosed with Lynch syndrome or BRCA and their testing was most often paid for by insurance. They had a personal experience with it…however, there are still some concerns of those regarding anonymity in genetic testing and who do test anonymously. However, today, it is still a major issue, with our children and those without a steady insurance or income. There is little fear of getting insurance as a result of the GINA legislation and federal and state protections. However, fear is still very real about the cost of insurance.
The fear is valid and needs to be resolved. We saw, with the Affordable Care Act, those at highest risk for colorectal cancer, be charged copays, sometimes reaching a thousand dollars, if a polyp was removed. Despite the fact those with Lynch syndrome face an average of 37 colonoscopies and 37 endoscopies during their lifetimes and the average person over fifty experiences 3 colonoscopies, the Federal government acted to protect those over fifty, and not those with the Lynch syndrome, despite the colonoscopy being a preventative test.
Lynch syndrome has no strong supportive lobby as does those with hereditary breast cancer. It has no large corporations supporting it as does those with hereditary breast cancer. Though the proportion of the population affected by Lynch syndrome is the same as that with breast cancer, those with breast cancer are diagnosed three to five times more often than those with the Lynch syndrome, resulting in the continuing circle of cancers evolving within families.
“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." was stated within the article.
The big question is why wouldn’t researchers still ask those questions, since many of the concerns still exist and after fifteen (15) years, there is still a severe under diagnosis of Lynch syndrome and little advancement in the issues surrounding the women’s cancers. This is especially in light of the fact there are no standards of care for women or large advanced clinical trials for Lynch syndrome, to date, to discuss the issues of women and Lynch syndrome.
The one thing which was made truly obvious in this article is most individuals with Lynch syndrome are educated, informed and savvy. They know their risks, discuss them extensively with family members and their medical team, keep up to date with the most recent studies, work hard to protect themselves by making necessary life changes in diet, exercise and attitude, participate in regular cancer screening and become involved in advocacy efforts. As a result, today, we live.
Due to the evolution of the internet and the advent of advocacy, much has changed, however there is still very immense need in education, diagnosis of those affected, the development of guidelines for ongoing screening and the concerns of discrimination, for those with the neglected condition of Lynch syndrome.