Jon’s oncologist referred him to a genetic counselor – so we met with her yesterday.

I had been looking forward to it, but wasn’t really sure what to expect since neither of us have any experience doing this sort of thing. The verdict: extremely interesting – and painless. She gathered thorough family and medical history stuff, gave a quick lesson (with pictures!) on genes, DNA, etc. and then jumped into genetic syndromes associated with colon cancer.

I hadn’t thought about this sort of thing until today when she explained it, but cancer is generally considered sporadic, familial or hereditary.
Sporadic: occurs by chance; typically no relatives with the same type of cancer.
Familial: likely caused by a combo of genetic and environmental risk factors; no patten; risk is not clearly passed from parent to child, but one or more relatives usually have the same type of cancer.
Hereditary (maybe 5-10% of cases): an altered/broken gene is passed down from parent to child.

Jon has zero family history of colon (or related – uterine, stomach, kidney, etc.) cancer (that we’re aware of), so it would seem that his tumor was just a freak thing (sporadic) – but his situation is considered “early onset” – and potentially aggressive – indications that something hereditary might be going on.

Lynch Syndrome (aka Hereditary Nonpolyposis Colorectal Cancer) is the mostly likely culprit given his early onset and lack of polyps (hence the nonpolyposis part – he had just one small polyp in addition to his tumor as opposed to 100’s – which apparently happens) – IF there is a hereditary culprit. She ran the numbers in whatever software she uses and determined that he has something like a 7.8% chance of having a hereditary mutation. Sounds low, but it’s generally not that low when you compare to the rate of men his age who present with colon cancer.

The risk of colorectal cancer if carrying a mutation? 82%
The general population risk? 2%

If Jon has a mutation, his kids and parents have a 50% chance of having the same mutation – and other relatives are obviously at risk.

So – we chose to go ahead with the initial phase of the testing (all of which is currently (meaning until Jan 1 – we have a high-deductible health plan/HSA that will be starting over) covered 100% by our insurance because of Jon’s risk – thankfully – because it could wind up in the $5k range). (We asked if someone – like me, for example – could come in and be tested for ALL genetic issues and were told that it would likely be $10k+ … and insurance plans won’t cover unless there is identified risk. Plus there are the emotional implications, etc.)

Should Jon have a mutation, we’ll have a lot to think about given the increased risk for other cancers. One option already presented? Removal of his entire colon.

We’ll have a lot to think about re: his (ages 17-23) kids, too. It was recommended that they all also undergo testing if he has a mutation, of course, given the 50% chance they carry the same. If they also carry a mutation? Colonoscopies (and other screenings) begin yearly at age 20. The counselor indicated that they generally don’t test kids younger than 18 since there’s no childhood risk – but that we’d have to assess emotional maturity – and let them decide, of course.

The implications, in general, are just … astounding … and heartbreaking.

We asked about future insurance coverage – one big issue we were concerned about for all involved – and learned about the 2009 Genetic Information Nondiscrimination Act (GINA) that protects from discrimination by health insurers and employers based on genetic information. HIPAA obv also helps. NOT protected – supplemental things like life insurance.

It’s a lot to absorb and think about.

Not knowing isn’t really an option … so we wait some more.

Edited to add: this is sort of a depressing thing, huh? Maybe I should stop with the cancer posts?