Thank you for reading. Intended and dedicated to the patients and families affected with Lynch Syndrome, I hope this helps change guidelines for the better.
This is intended, and dedicated, to those affected with and by Lynch Syndrome. May this aid in helping change guidelines for the better.
The most common response I hear regarding Lynch Syndrome is that, "it's rare." Except it that it isn't. Lynch has the same 1 in 400 incidence as Hereditary Breast and Ovarian Cancer syndrome (HBOC). That's the syndrome caused by cancer-causing mutations in the two BRCA genes which, in contrast, get loads of attention. That's to the credit and bravery of those who have come forth and openly discussed BRCA; think Angelina Jolie.
RARE ISN'T THE PROBLEM
Rare is relative and in the realm of hereditary diseases, Lynch is quite common. The disparity in identification rates between HBOC and Lynch syndromes is alarming and in need of investigation. It's hard to determine the precise rates, but approximately 15% of patients who meet indications for BRCA testing have actually been tested. In my opinion that's a shame for all that should have been informed of their risks and life-saving options. For Lynch syndrome, it's nearer to ~3%. That's abysmal.
While any Gastroenterologist may have personal factors contributing to their hesitancies in adopting genetic testing it's their medical guidelines keeping them from overcoming their personal hurdles. Though, it's ironic that all cancer is genetic (not to be mistaken with hereditary) and anyone whose profession is largely built around cancer screening should have greater adoption of genetics in their practice. Yet genetic screening and testing is largely avoided and that's a mistake.
In order to make my case, consider the following facts:
85% of Colon Cancers that are caused by Lynch Syndrome arise from alterations in MLH1 and MSH2 genes
The average age of developing cancer from either of those two genes is 55-58 years old
As of May 2019, testing indications focus on cancer diagnosis before age 50
Before the age of 50! Let that sink in. A majority of colon cancer caused by Lynch happens between 55-58 years of age, but your doctor is looking for a personal diagnosis under 50 in order to be suspicious of Lynch. Add to the fact that colonoscopy has been monumentally successful in reducing mortality from Colon Cancer - it has singlehandedly succeeded in being the greatest reduction in cancer related death than any other medical procedure. That success has lead gastroenterologists to place immense trust in it's effectiveness but it has also caused them to drastically under-estimating Lynch as their foe. So even though colonoscopies helped catch cancer and lower mortality rates, Lynch largely remains unidentified and that's problematic.
Why is that problematic? Because lower mortality rates should no longer be the sole measure of success. Early detection, fewer treatment side effects, and reduction of secondary cancers should be the new standard. Especially when you consider that cancers which arise from Lynch are typically more aggressive. A lot more. Not only aggressive but persistent. Lynch cancers, after treatment surgically or medically, have up to a ~50% chance of returning; either in the same location or in another organ. Yet doctors are relying on their ability to treat rather than prevention and it's largely because guidelines are misdirecting them, or at least not properly incentivizing them to do so.
COST-EFFECTIVENESS
When you consider the cost to payers, the health system, and patient, testing is cheap. Patient's typically pay less than a $100 co-pay, and most labs offering these tests have significantly reduced the cost of testing and/or have outstanding patient assistant programs. The cost effectiveness for health systems has been demonstrated by QALY scores and you can read here that it is cost-effective to begin screening as early as 20 years old in patients not affected with cancer. So it's common, it's cost effective, and affordable but it's perplexing that guidelines have not adjusted.
There must be more to analyze to understand, so stick with me.
Consider that the very structure of our healthcare is modularized. Modularized in the sense that each specialist focuses on one anatomical and physiological aspect of our health. Gynecologists focus on female anatomy and reproductive health and Gastroenterologists focus on our abdominal digestive health. Cardiologists focus on cardiovascular health, and so-on and so-on. Therefore, a GI isn’t looking for Ovarian Cancer, just as a GYN isn’t looking for Colon Cancer. Ordinarily, this modularization makes perfect sense and works to our benefit. However, this has an unforeseen compounding and confounding consequence.when it comes to cancer syndromes. That's because there is significant overlap in cancer phenotype by genotype. Layman's terms: HBOC can cause Breast, Ovarian, Prostate and Pancreatic cancer, while Lynch can cause Colon, Endometrial, Gastric, Ovarian, and Pancreatic cancer. Meaning both syndromes cause diseases falling within the scope of each specialty, but neither speciality is aware and therefore doing nothing about it.
I wish I were done making my point, but I have three more punches to throw.
SCREENING FOR EARLY DETECTION
Consider a healthy 25-year-old woman. She unknowingly has Lynch syndrome. Without any major reason to, she's never even seen a gastroenterologist (GI). She's not "supposed" to see a GI for routine screening until age 45. She's likely to develop a cancer prior to that age. However, if she were tested and uncovered to be positive for Lynch syndrome she should receive a colonoscopy every year. That works out to be 60 colonoscopies by the time she turns 85. Ensuring that if she ever did get cancer, it would be caught an early and treatable stage without the gnarly side effects of chemo. Whereas otherwise she would only receive a scope every ten years beginning at 45. That's what guidelines dictate - in which case she may be dealing with terminal or aggressive cancer. That’s an enormous difference. A life-saving difference.
The answer on WHO should identify risk factors and test patients is straight forward: EVERYONE. Not pointing the finger to genetic counseling. Everyone beginning with primary care physicians and ending with oncologists, and including the radiologists and gastroenterologists in between. Everyone should work in concert. HOW is a workflow conversation, and while a bit more complex, is not an impossible endeavor. I'll post and hyperlink an article soon on some workflow suggestions I've implemented in the past with immense success.
WHAT SHOULD YOU DO
Gastroenterologist's contact ACG, and AGA for a swift, and long overdue update of their guidelines. Gynecologists: don't depend on your colleagues there are too many variables puncturing that safety net.Patients: share more information about cancer(s) on both sides of your family, and don't neglect to mention relatives to have survived cancer or are deceased. The more they know about your family history, the better they can positively impact your future health and vitality. Try reading up on here for more information.
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