Cancer and Genetic counseling

Hi. I wonder whether this thread could be moved to one of the general CANCER boards? (I think that might generate more responses.)

Disclaimer: I'm fairly ignorant; my goal in posting is to share useful general links with you ASAP.

My oncologist will soon refer me to a genetic counselor (I have pancreatic cancer; three of the nine offspring in my parents' generation died from cancer; and on my mother's side, four in my generation of 14 cousins have or had cancer).

My understanding, from skimming various websites (links below) is that the counselor helps to assess your risk for certain diseases by asking about your relatives' health problems and then compiling that data.

The consultation might be followed by a blood test and possibly other diagnostic tests; I think this is to determine whether you have a certain genetic mutation that is ?common to certain diseases?. With cancer so close to you (mother; twin), it seems likely that bloodwork will be done on you and that other types of monitoring (CT, MRI, PET) will be set up.

To the best of my knowledge, no diagnostic tool can say that a person *will* develop a disease; that said, some people use the results of genetic counseling to decide whether to have surgery prophylactically (e.g., some women with a significant family history of breast cancer and with a certain mutation choose to have a double mastectomy to avoid a future cancer that could kill them).

(Apologies if I'm wrong about anything in the two paras directly above; I do know that some people on the board I frequent most, for people with pancreatic cancer, know their genetic mutation. It's not yet clear to me whether knowing one's genetic mutation enables one's oncologist to semi-tailor treatment -- in other words, I don't know whether there is evidence that, say, a person with a certain mutation who has a particular type of cancer will respond better to Chemo Regimen 1 rather than Chemo Regimen 2; IIRC, some people with pancreatic cancer have posted about responding better to one regimen than to another BUT without necessarily noting anything about a mutation -- in other words, various factors determine the individual responses to a given remedy, and to repeat, I don't know whether any studies have yet correlated response to a given regimen with knowledge of a person's mutation.)

I got some kind of genetic test soon after diagnosis — they sent it off to the U.S. I never heard anything, so a few months later I logged into the U.S. lab's website and got my own result — it showed no known marker for generic predisposition, which is good news for my brothers and nephews (and probably why my oncology team never mentioned it).

Note that I do have stage 4 prostate cancer, so take the test results with a grain of salt. Genetic predisposition is just about odds, not about what you actually have.

This comment is strongly colored by my experience with pancreatic cancer, which is notoriously difficult to detect in the early stages.

***Please be super-proactive about your health.*** In retrospect, I wish I had known to say to my PCP (whom I saw after developing back pain and sometimes bloating after eating -- both of which are among the few symptoms of pancreatic), "One of my aunts died of pancreatic and another of ovarian. Can you make a referral so I can have a CT scan, and bloodwork to check for anything that indicates the likelihood of either of those cancers?"

Tumor markers in the blood aren't definitive, but the combo of pain, family history, bloodwork, and of course a CT scan would have meant earlier detection. And early, or earlier, detection make a difference.

ETA: I did have two ultrasounds to check for ovarian, but I was completely clueless about pancreatic. I do not know why, and I'm eager for others not to make a comparable mistake.

Hi @jdtay87, as @jk77 suggested, I've also added your question to the Cancer support group.

You may also be interested in this related discussion:
- Anyone else have CHEK2 gene mutation? And have had multiple cancers?
https://connect.mayoclinic.org/discussion/anyone-else-have-chek2-gene-mutation-and-have-had-multiple-cancer-sca/

Here's more information from Mayo Clinic about genetic counseling. https://www.mayoclinic.org/departments-centers/clinical-genomics/services
Excerpt: "A genetic counselor has advanced training in medical genetics and counseling. Genetic counselors help and support people as they navigate and seek information about inherited conditions that could potentially affect them or their families. Genetic counselors often meet with patients and their families before and after genetic testing. Genetic counselors work in different areas of health care (for example, prenatal, cancer, pediatrics and more) and are important members of many health care teams.

To best support patients and their families and provide accurate information about genetic risks, a genetic counselor will often ask questions about personal medical history and family health history.

A genetic counselor may discuss:
- Your chance of inheriting certain genes or conditions based on your personal medical history, family health history or both
- Your chance of passing on a genetic condition to your children
- How a certain genetic condition could impact your health or the health of family members
- Options for genetic testing, if available
- The benefits, risks and limitations of genetic testing for you, your family members or future children
- Ways to talk about and share information about a genetic condition with family members

May I ask what type of cancer your family members had? Have you ever had cancer?

“May I ask what type of cancer your family members had? Have you ever had cancer?”

My mom had breast cancer, my twin sister had an astrocytoma, which is brain cancer, and my older sister had an atypical spitz nevus, not cancer, which is how she got tested for CHEK2. I haven’t had cancer yet, but ever since my twin sister got it, I’ve been thinking that I’m not too young for it.

HI John,

Tough spot for you...

The other posts here seem really good to me! I've been to genetic counseling for 2 things.

Make a list before you go.-- This is the only suggestion I can add.
The counselors need/want to know your entire family history.
They want to know which relatives are still alive and their health problems, and at what age their health problem started.
They want to know which relatives have passed away, how old they were when they passed and what they died of, and their other health problems. Depending on the size of your family, this may be a LOT of information. And I got "brain cramps" during the appointments and couldn't remember some obvious, simple information. My list was really helpful.

Oh, here's another suggestion I didn't see already:
Take someone with you to the appointment, if you have a good, supportive person.
You may hear a LOT of information. I got information overload at all of my appointments. And talking about all of my dead relatives made me emotional, so that made it harder to focus, too. Preparing a list beforehand helped me to be accurate about the information, and it relieved some of the sadness by not focusing too much on their passing-- just had to read the facts from my list, not remember the experience. Having a support person helped, too.
They did give me a lot of handouts to read after the appointment, which repeated a lot of what they said during the appointment. That was helpful.

Best of luck to you!

Just made the appointment today… for the middle of February. I didn’t know genetic counseling was in such high demand. I feel silly for making the thread this early now.

No need to feel silly. You were doing your homework. Feel free to keep asking questions.

Hi John,
Colleen is correct: It is good to be prepared! It is not silly.
The former teacher in me wants to add:
1. It's good to have time to gather the information that you will need.
2. It's important to have time to process new information and to think through different possibilities.

I wish some of my students had planned more!
🙂

Hey, it's been awhile. Just wanted to say that I did get my test in February, and I do have the CHEK2 1100del mutation. Out of over 70 genes tested though, that was the only problem I had, so nothing I wasn't prepared for.

My doctor is setting me up with prostate and colon cancer screenings in October, even though I'll only be 37 years old then. Even with the CHEK2 mutation, you aren't supposed to start screenings until age 40, so that was nice of him.