There are about one million people in the United States with Lynch syndrome and yet, it is estimated that only 5 percent of this particular population is aware of the fact they hold one of the five Lynch syndrome genes.
Georgia Hurst is a patient advocate for those with Lynch syndrome. She has the MLH1 mutation and fortunately has never had any cancer. She is the co-creator of #GenCSM (Genetic Cancer Social Media) on Twitter, and her advocacy work has afforded her opportunities to write for medical journals, various websites and genetic testing companies, as well as collaborate as a stakeholder for the National Academy of Sciences: Genomics and Population Health Collaborative. Her loves include: her son, her dog, books, photography, long walks in the woods, and seeking out fungi after the rain. Her motto is: "There is enough misery in the world – there’s no need to contribute to it.”
There are about one million people in the United States with Lynch syndrome and yet, it is estimated that only 5 percent of this particular population is aware of the fact they hold one of the five Lynch syndrome genes. In a recent study, it was noted “Few patients whose families met clinical criteria for Lynch syndrome had undergone genetic testing, and only a small percentage of their doctors had given them appropriate screening recommendations.”
I cannot help but wonder if a consult with a certified genetic counselor would encourage far more families who meet the clinical criteria for Lynch syndrome to seek out genetic testing. A certified genetic counselor has the time and knowledge to explain the gravity of such a diagnosis in order for patients to decide if genetic testing is right for them.
A certified genetic counselor will discuss your family medical history with you to assess if you are a candidate for genetic testing – the term “counselor” is misleading in this context, and unfortunately, many people believe they will be participating in some sort of psychotherapy session. This is simply not the case. Certified genetic counselors should be able to assist you in finding doctors who are well-versed in Lynch syndrome. Frequent, meticulous screenings are crucial for cancer prevention or at the very least, catching cancers early in those with Lynch syndrome when they are most treatable. Please ask your doctor to a referral to a genetic counselor, or go here to find one: nsgc.org
or contact me and I will help you find one.
As a fierce advocate for those with Lynch syndrome, I am highly concerned with the Lynch syndrome population. Most of the people who reach out have been genetically tested by their doctors, when in fact, these well-meaning doctors should be referring these patients to certified genetic counselors. While these doctors may have good intentions, many of them truly do not understand the implications of having Lynch syndrome and what needs to be done for patients to reduce their cancer risks. The recent study mentioned above confirms this.
Genetic testing may provide them with some insight into their potential genetic destiny – but genetic testing is simply not enough. Many doctors are not providing their patients with accurate information, which would be helpful to patients in order for patients to reduce their cancer risks. Many people I speak with do not understood that this is an autosomal dominant mutation and there is a 50/50 chance that each one of their children may also have the gene. They also do not recognize that with proper surveillance and scopes, along with the prophylactic surgeries for particular mutations with some women with Lynch, they could lead long, healthy lives, possibly without cancer ever developing. If people truly understood the implications, perhaps then they could encourage other family members who may be at risk to seek out genetic counseling and genetic testing, too.
Furthermore, Lynch syndrome is solely not about colon cancer as many doctors still currently believe; a variety of organs can be affected, dependent upon which mutation you have. This is why I constantly insist on people seeking out certified genetic counselors. Those with Lynch syndrome need to be vigilant with their scopes and other screening measures.
I speak to many people with Lynch syndrome and the ones who concern me the most are the men. From my experience as an advocate, they are less likely to seek out a genetic counselor, are uncomfortable with the thought of having a colonoscopy and truly do not understand the full spectrum of their cancer risks. They tend to “bury their heads in the sand” more often than not and truly do not understand the gravity of the situation, usually until it’s too late. This is not specific to one socioeconomic or specific group – I see this across the board.
The biggest concern for most people that I speak with is the colonoscopy. Colon cancer, the one cancer which everyone with Lynch syndrome is at high risk for, is the most preventable, and yet many people are developing colon cancer and dying from it, simply because their doctors are not well-versed in Lynch syndrome screening measures or patients simply do no like the idea of the placement of the scope. Ellen Matloff, MS, CGC and president of My Gene Counsel, says, “Many people are concerned about the invasive nature of a colonoscopy. This is understandable. Most patients later recount that the scope itself was not painful or invasive as they’d feared, and that the meds given to them during the procedure worked well.”
According to Matloff, “There are five genes involved with Lynch syndrome, and the risks and recommendations with each differ. Be certain to have certified genetic counseling before and after testing, so you understand the facts about your test result and what it means for you and your family members.”
Having genetic testing and knowing you hold a mutation is not enough. Knowledge is only power when understand your cancer risks and can take actions to minimize them.