The Henry T. Lynch Symposium: Advances in Hereditary Cancer took place last week in Omaha – it was highly informative and moving. The outpour of love and admiration for Dr. Lynch and his work was overwhelming. This post is basically a summary of the most important take-aways from the conference. These comments were extracted from the talks which were presented — the presenter’s name can be found in parentheses.
- Lynch syndrome registries increase the quality of care for Lynch syndrome patients (Vasen).
- Those with mutations MSH6 and PMS2 have lower rates of colorectal cancer and endometrial cancer in comparison to those with the other Lynch mutations (Vasen).
- For those with MSH6, the risk for other cancers is lower in comparison to other mutations (Vasen).
- Psychological and emotional issues regarding a Lynch syndrome diagnosis still exist today; however, improved screening measures and confirmation and clarity of risk some of the uncertainty have been reduced (Snyder). G’s note: I disagree, I think this is dependent upon whether or not people have access to genetic counseling and what their family history with cancer looks like. Socioeconomic disparities are all too common and are very problematic for many — not everyone has access to doctors who are well-versed in Lynch screening.
- There is federal protection for those with hereditary cancer syndromes for health insurance and employment discrimination; however, this is not applicable for those seek life insurance or long term disability insurance (Snyder). G’s note: Please go here for more info: http://www.eeoc.gov/laws/statutes/gina.cfm
- As more people are being tested, more people are being testing with VUS’s -> variance of unsignificance (Snyder). G’s notes: This can be very problematic and stressful and this is why I encourage people to seek out genetic counseling. If you live in a rural area, genetic testing companies such as Informed DNA can provide you with phone consults; please go to www.informeddna.com/ for more information.
- There will be about 132,70000 new cases of colorectal cancer in the U.S. in 2015; about 4,000 of them will be the result of Lynch syndrome (Hampel).
- A website to check out: lynchscreening.net. Mission: To promote universal Lynch Syndrome screening on all newly diagnosed colorectal and endometrial cancers (Hampel).
- There are challenges within families for getting them to get genetically tested – lack of communication, not everyone lives in the area, no follow-up to determine whether or not people pursued genetic counseling or testing (Hampel).
- Hampel attended a family reunion in 2014 for a family with Lynch syndrome and was able to test 20 at-risk relatives (Hampel). G’s note’s: this was a stellar “thinking outside of the box approach” for the genetic testing of families.
- A prophylactic colectomy at age 25 for those with Lynch syndrome offers a survival rate benefit of 1.8 years compared to having frequent colonoscopies. The special circumstances for this procedure is recommended for include: difficult colonoscopy, poor compliance — meaning the patient will not be vigilant with getting their screenings, a high psychological fear of cancer, and a high occurrence rate of early onset cancer within one’s family (Church). G’s note: you’re better off getting an annual colonoscopy instead of removing your colon. The quality of your life may change significantly, losing your colon can make you incontinent, hold implications for your sex drive, and many people complain of chronic pain. You want to consider keeping your healthy colon for as long as possible.
- Colonoscopy for those with Lynch syndrome should be between the ages of 20-25 or 2-5 years prior to earliest case of colorectal cancer; should be repeated every 1-2 years (Lanspa). G’s note: there is tremendous disagreement about the frequency of colonscopy for those with Lynch syndrome, Mayo recommends annual scopes.
- Endoscopes and colonscopes have improved in order to detect polyps; chromoscopes (scopes with dye) are far more successful for detecting polyps than regular scopes. (Lanspa). G’s note: Please be sure your doctor(s) are using chromocolonoscopy and chromoendoscopy for your scopes! The dyes used for these scopes seem are more promising. There is still no established surveillance technique, which is a big problem.
- Asprin is highly effective in the prevention colon polyp formation: 600 mg/day for 2 years reduced Lynch syndrome cancers at 5 years by over 50% (Burn).
- Obesity increases your chances of developing colon cancer (Burn).
- Asprin prevents cancer and according to Sir John Burn, taking aspirin is as safe as having a regular colonscopy; start with a low dose of aspirin and see how well you tolerate it – then work your way up. Your chances of fatality due to taking a high dose of aspirin increase dramatically after age 70 (Burn). G’s note: Please talk to your doctor first!
- Olopage gave the most interesting, enlightened talk of the conference and discussed how the “one size fits approach” to genetics is inappropriate — sound familiar? We need to reach poor women, African-Americans, Hispanics, and Latinas as they are more likely to die from cancer in comparison to other populations (Olopage).
There was not much talk on other preventative measures such as diet, exercise, stress reduction and I believe it would have been wonderful to have a psychologist who is seasoned in dealing with those with hereditary cancer syndromes — many doctors simply don’t understand the emotional gravity of what it’s like for patients to have a hereditary cancer syndrome.
I managed to attend both days of the conference and on the third day was able to sit down with Dr. Lynch to discuss the swath of issues surrounding Lynch syndrome – here in the United States and abroad. I am hoping we can collaborate with doctors, genetic counselors, and other advocates very soon to address these issues. I’ve said it before and will say it again, Lynch syndrome will never get its props like B-R-C-A until we’re all on the same page and present a united front — just like most of the B-R-C-A community.
Another thing which I would like to bring your attention to … I have another charming genetic mutation called Familial Hypercholesterolemia. The reason I bring this is up is because #FH Awareness Day in September 24, 2015 and it, like Lynch syndrome, it is in dire need of attention.
FH “is an inherited disorder that leads to aggressive and premature cardiovascular disease. This includes problems like heart attacks, strokes, and even narrowing of our heart valves. For individuals with FH, although diet and lifestyle are important, they are not the cause of high LDL. In FH patients, genetic mutations make the liver incapable of metabolizing (or removing) excess LDL. The result is very high LDL levels which can lead to premature cardiovascular disease (CVD).” For more information, please go to => https://thefhfoundation.org for more information. (Source: https://thefhfoundation.org)
On a final note, we had our #Hcchat on September 9th; please click here to read the transcript: