Genetic Counselling/Testing Catch-All

Moving all the genetic counselling and testing talk to its own thread so I/we don't hijack the ianunderhill vs. cancer thread.

I've got a genetic counselling appointment in a few days as there is a chance that I have a genetic mutation that makes colon cancer a lot more likely (and a lot more deadly).

Has anyone else had this type of counselling? What should I expect? And if anyone else has been tested for genetic mutations (I feel like a knock-off version of an X-Man every time I say that) - how long did it take for the results to come back? What did you do to not go a bit stir crazy while you waited?

I'll be curious to see what people have to say about all this. To my knowledge, none of my relatives have any mutations that may have led to my cancer, but then, that means nothing, and I should probably start busting people's asses about getting tested. I'm especially curious to know how big of a pool of relatives I ought to bug to go and get tested - there are some real hard-heads in the ranks but if it takes work, it takes work.

My wife and I haven't undergone genetic counseling yet (although we will have to if we want to have more kids), but we did do genetic testing for our disabled son. So far as his testing went, it consisted of doing a blood draw at the hospital and then waiting 2-3 weeks for the results to come back. The results were sent to our referring physician (in this case a pediatric neurologist) who contacted us by phone when he received them. We also received our own copy of the genetic test in the mail a few days later.

As far as what we did while we waited: we worried and tried to distract ourselves. Like you always do with big news. I'm not sure there's anything else you can do while waiting for someone to, in some ways, forecast your future.

ianunderhill wrote:

I'll be curious to see what people have to say about all this. To my knowledge, none of my relatives have any mutations that may have led to my cancer, but then, that means nothing, and I should probably start busting people's asses about getting tested. I'm especially curious to know how big of a pool of relatives I ought to bug to go and get tested - there are some real hard-heads in the ranks but if it takes work, it takes work.

The advice we were given so far as a pool of family members was to go by branch on a family tree. If you test positive for a mutation, then your siblings need to be tested (and parents if they're still around). If your siblings test positive, then they need to have their kids tested. If your parents test positive, then their siblings need to be tested; if they test positive, then your cousins.

Basically, sit down with a drawn out family tree. If you get a hit on a node then all of the nodes coming off of it need to be tested until you stop getting hits.

Clockwork, that's the same advice I was given.

My grandmother (mother's mother) tested positive, and two of my mother's sisters are positive as well - all three have had colon/reproductive cancers or things that could have turned into cancer had they not been caught in time.

My mother is being tested now, and if she's positive, I will also have to be tested. She's known for nearly three years her Mum was positive and finally decided that she should get tested so my sister and I can know whether we're at risk too. For awhile she was refusing to have it done, and I was talking to a clinic in Seattle to see if I could a) get the test done in the US, and b) would those results be acceptable to Canadian doctors so my sister could also be tested.

It was yes to both, so if any Canadian Goodjer is in the same boat, I'm happy to provide details about that.

I just want to know so I can do whatever needs to be done about keeping on top of it - blood test, colonoscopy, diet/lifestyle change...whatever it takes.

Ian - I wonder if you could at least get your parents to get tested as a first step? If there is a genetic mutation, you would have got it from one of them, once they know, you can work your way back and out (your siblings, their siblings etc.). It's knowledge worth having imo.

I went through something similar last year. I was tested for Crohns disease and was found not to have it. The need to counsel and test came from the pathology report on the cancer I had removed last March.

The counseling and testing were pretty easy and actually occurred in the middle of my chemotherapy treatments I was under going for colon cancer (see afore mentioned thread).

A big part of the counseling will be a family history. This took the most time and you are really looking for a genetic link to similar issues or events. They described what I may or may not have, reviewed my family history and told me what the chances would be of me having the syndrome.

Now, what would have changed for me had I tested positive? Nothing. I would still do an annual colonoscopy and I still am monitored very closely by my oncologist for recurrence of the cancer especially in my colon, lungs and liver.

Wow, Clover, that's a lot to take on and deal with - it must be stressful as hell. I suppose I've got it good with only the one mutation to worry about (and I don't even know if I have it yet).

Is there any advice you got about lifestyle changes that you've found helpful in addition to the right meds? I won't know for quite some time if I even need to be tested (my mother could be negative) but I feel like I need to do something just in case. Maybe that's a bit of overkill in the worry department? I can't change or control my genetic makeup, but I still feel the need to be pro-active about it.

I was warned by the BC Cancer Program that test results here can take three to six months (hurrah for government run health care - it's free testing, but it takes forever because the labs are so backed up). I guess I will just have to push the anxiety to the back burner if I have to get tested and then wait as patiently as I can (or get a doctor's note to play WoW for 6 months and call it therapy).

CEJ wrote:

A big part of the counseling will be a family history. This took the most time and you are really looking for a genetic link to similar issues or events. They described what I may or may not have, reviewed my family history and told me what the chances would be of me having the syndrome.

Yup. I did an abbreviated version with my doc, and with related conditions pretty universal on both sides he ordered up the test the same day. I was told my chance of having one copy was pretty high, but it came up jackpot.

An actual genetic counselor will likely give you more handholding and basic genetic knowledge than I got/needed from my doc, if that's something you or your family would benefit from.

Getting family members to test is its own adventure. My mom got right on board after I sent her some info (she's still waiting on her test results) but my dad is pretty uninterested unless there's "something to be done about it". But my stepmom is an RN and so things like being prone to deep vein thrombosis get her attention, at least.

I was recently diagnosed with two copies of the MTHFR mutation (snicker). I posted about scheduling the test in the depression thread, but haven't gotten around to writing a follow up since it's been a wild ride in the meantime.

= test =

My test results took about a week. One of the popular national labs for it is local though, so yours might take longer if they have to mail it away somewhere.

I was busy balancing out other meds in the meantime so I was preoccupied with remembering to take all 126,000 pills every day. I also tried to do more mentally consuming hobbies at home like coloring books and really engrossing books or video games. My brain wasn't working so well at this point so iPad cow clickers were usually enough.

If you are getting out ok maybe line up a few evenings with friends ahead of time, so you have pre-loaded distraction? Or a friend that can sympathize and will let you fret for a bit, then drag you out for something fun.

= genetics =

Basically, the issue I have impedes folate and folic acid metabolism. So a lifetime of leafy greens and Flintstone vitamins has actually been doing me almost no good (~8% of normal), and my body finally ran out of gas since you need folate for neurochemistry.

My mutation is apparently the most severe version of its type (homozygous C677T)... it can cause heart and vascular problems, blood clotting disorders, addiction issues, assorted autoimmune things, neural tube defects in yer babies, and depression/bipolar/schizophrenia/etc (which is why my doc ordered it, after reviewing my family history again). There isn't a lot of public knowledge about it yet but lots of NIH studies are in the pipeline.

Since I have two copies, that means I got one from each parent and both sides of my family would benefit from testing. The lab recommended genetic counseling because of the severity but I haven't signed up to go yet, since my (kickass) GP is administering my treatment and we're not planning to have kids.

= treatment =

Treatment for me is a special vitamin that is basically pre-metabolized folate... the exciting part was that having actual working brain chemistry pushed me into a manic phase, so we learned I was bipolar I stopped the vitamin for a couple weeks while I got going on a lithium regimen, and now it's better. New treatment for any lifelong condition will probably be an adventure, so be ready

Of course all you can do for some things is be aware and maybe get tested more often for certain things, but usually there is something diet/nutrition-wise to help your odds, even if there's not an actual protocol.

Mimble wrote:

Wow, Clover, that's a lot to take on and deal with - it must be stressful as hell. I suppose I've got it good with only the one mutation to worry about (and I don't even know if I have it yet).

Is there any advice you got about lifestyle changes that you've found helpful in addition to the right meds? I won't know for quite some time if I even need to be tested (my mother could be negative) but I feel like I need to do something just in case. Maybe that's a bit of overkill in the worry department? I can't change or control my genetic makeup, but I still feel the need to be pro-active about it.

I was warned by the BC Cancer Program that test results here can take three to six months (hurrah for government run health care - it's free testing, but it takes forever because the labs are so backed up). I guess I will just have to push the anxiety to the back burner if I have to get tested and then wait as patiently as I can (or get a doctor's note to play WoW for 6 months and call it therapy).

For lifestyle changes, my main health problems are glandular and autoimmune so I've been (mostly) keeping to a gluten-free diet since gluten aggravates those issues. Recently I started moving to the paleo diet, figuring my body needed all the help it could get, and it has been really helpful.

I'm also a bit of a control freak so working out decision trees in my head is helpful to me. Like, if x happens I will do y, and if X happens I'll do y and look into z also. I feel like I'm becoming an armchair endocrinologist and psychiatrist at this point, but being an informed patient helps me feel I'm getting better care because I can engage better. Also keeps me out of worrywart feedback loops I'm bad at being passive though, so YMMV.

Since the wait for your test results might be really long, doing some research/decision trees on your own might not be a bad thing. Of course you don't want it to be all you do, but if you're going to be thinking about it anyway then at least you can be beefing up your knowledge instead of just worrying.

My wife, my four year old and I have all had a full micro-chromosome array done. The reason behind it, as I've mentioned what feels like way too often, is that she was born with complete agenesis of the corpus callosum. For reference, go watch Rain Man; Kim Peek, the man whom the character was based on had complete ACC, and that's one of the ways it can present itself. It's a very strange condition. From what we can tell, hers is the result of the deletion of the 13q33.3 chromosome.

That said, how long it can take really depends. When they did the array for my daughter, it was rushed and took a week or so. Same for when they did one on my wife and I to see if either of us carried the deletion and passed it down. Turns out we don't; hers is the result of a mutation(aside: My daughter's a mutant! Superpowers appear to involve endless Daddy adoration and extreme cuteness). As for testing family members, since my wife and I don't carry the deletion, there was no need to from what we were told. Oh, and timelines: it really can run long; there are instances where it can take months to get through the process.

As for effects, we're really just taking the long view on things. We don't know how she's going to turn out; prognosis are just all over the place. There are folks who turn out normal, lead normal lives, work normal jobs, with no real effects. Other folks wind up severely disabled, never leave home. That bit's kind of nerve wracking. Right now though, there's nothing really dietary that would have an effect on things; her major issues are with crossing the mid-line; eg she won't reach right hand to left side to pick up a crayon probably 90% of the time. Instead, she'll pick it up with the left hand and hand it off at center. The reasoning behind this is that reduced neural pathways between hemispheres just makes that type of coordination difficult. Beyond that, it's all developmental delay issues.

On doctors and such, I'd highly recommend seeing a geneticist if you can. We were able to, and being able to sit with someone who deals with genetic issues day in and day out made charting things out very easy. Things like determining how far out the family tree to test, getting the labs ordered, all of that was made really easy and explained very well.

Ultimately, it's all like Clover said: arm yourself with as much knowledge as you can. The more you know, the easier it will be to deal with outcomes as you go through the whole process of getting a course of action laid out to deal with whatever is at hand.

clover wrote:

Since I have two copies, that means I got one from each parent and both sides of my family would benefit from testing. The lab recommended genetic counseling because of the severity but I haven't signed up to go yet, since my (kickass) GP is administering my treatment and we're not planning to have kids.

Hi, as a geneticist, I need to point out that as long as your spouse is tested and does not carry a copy of the mutant allele, you won't have children with the disease, so from the point of view of concern of passing it on, it may well not be an issue.

Tach wrote:
clover wrote:

Since I have two copies, that means I got one from each parent and both sides of my family would benefit from testing. The lab recommended genetic counseling because of the severity but I haven't signed up to go yet, since my (kickass) GP is administering my treatment and we're not planning to have kids.

Hi, as a geneticist, I need to point out that as long as your spouse is tested and does not carry a copy of the mutant allele, you won't have children with the disease, so from the point of view of concern of passing it on, it may well not be an issue.

We're pretty concretely childfree at this point anyway so I'm not sweating it. My doc gave me a bunch of studies and it looked like even being heterozygous had an effect, though? At least for hyperhomocystenemia and depressive issues. I thought that was weird that carriers could see a mild effect... maybe it's more like sickle cell than, I dunno, hemophilia. But non-sketchy consumer-level info is still scarce so I'm mostly sticking to PubMed abstracts.

Thanks for coming in here... always reassuring to have a real expert in the neighborhood!

Can you get a test to scan for anything abnormal/bad or do you have to have something specific in mind that you want them to look for?

So, I had my genetic counselling appointment on Wednesday morning...

I may have a mutation on gene MSH2 which can cause what is known as Lynch Syndrome. In my case, this means much higher than usual rates of colorectal, endometrial, and ovarian cancer (my family history has issues with all three, sometimes in the same person).

If I test positive for the mutation on the gene, I'm probably looking at having my uterus and ovaries removed. I'm OK with the uterus removal (mostly), because I'm not having kids, and I won't miss the monthly BS that periods bring. I'm more worried having my ovaries taken out, because it will force me into immediate and full menopause before age 40. Not good. I could leave them in there, but I was told it's difficult to screen for ovarian cancer and sometimes they don't catch it until it's already a stage 3 or 4 cancer (and then you can't do very much to correct it).

So, I'm freaking out a little bit about that. Plus, my mother was told that her test results could take 3 to 6 months to come back from the lab (she's in Ontario) and the usual procedure is to wait until the parent tests positive and then test the kids. Here in BC, those same tests take 6 to 8 weeks to come back from the lab. So, the BC people are confirming that ridiculous timeline with the Ontario lab and, if that's true, they'll get me in for testing in a couple of weeks rather than waiting for her results.

The people at the BC Hereditary Cancer Program prefer that I know sooner - esp. as I've never had any type of cancer screening. Here they try to screen people by age 25 and keep on top of that stuff when it runs in the family. I'm 36 and long over-due as far as they're concerned.

They also figure the blood test to see if I'm positive is easier than a colonoscopy, or the endometrial biopsy (which is apparently very painful). If I'm negative, I get to poo in a jar once a year so they can test for blood.

So, here's hoping I am negative. Pooing in a jar sounds easier and less painful than having scopes/biopsies and/or bits of my insides removed with a side-order of hormone therapy.

I want to know one way or the other - it's my body, I ought to know what it's up to - but I really, really hope to test negative because the idea of surgery scares the hell out of me. I don't want people wrist-deep in my innards. I'm scared sh*tless of the whole anaesthetic thing, because those tend not to work all that well on me. And, [Insert other worries that I cannot control the outcome of here]. Bleh.

/worried and nervous babbling

Here's hoping for the best, Mimble. I'll be keeping your well-being in my thoughts.

ianunderhill wrote:

Here's hoping for the best, Mimble. I'll be keeping your well-being in my thoughts.

Thanks, ian. I'm keeping your well-being in my thoughts too - esp. as you're actually dealing with the thing itself, and not just the possibility.

Funny how writing out some of your freakoutedness in such a great forum like this can help alleviate feeling freaked out.

Got a call from the BC clinic today, they have decided against fast-tracking me to be tested before my mother receives her results. The Ontario lab swears up and down my mother was misinformed about the wait times (despite everyone we know who's had the testing waiting months on end to hear back).

So, I have to wait for her results before I can be tested. But, I've been offered a spot on the colonoscopy list and that will take nearly as long as my mother's testing results will actually take! So...yay?

I was very upset about being led to believe I would be tested sooner and then denied that chance. I just want to know. I want to know ASAP, and I feel like these places put up road blocks deliberately designed to keep people from getting the medical attention they need (they probably don't, but that's how I feel right now). I've never been a big fan of private clinics before, but now I understand why people with the means to use them, do.

I am considering having the testing done in Seattle instead of waiting - if I'm positive for Lynch Syndrome and need surgery, well that scares the hell out of me, but I want it over with.

Apparently politely expressing your disappointment and anxiety works wonders.

My mother was told by her doctor in Ontario that she'd have the results of her genetic test in six months. When the BC cancer clinic called to confirm that wait time, the doctor told them he'd said six to eight weeks. My mother and I were both pretty unhappy about that as the BC clinic then refused to fast track my testing because her doctor was not truthful about the wait times.

Everyone in our family who has had the testing done has waited a minimum of five months for the results - even if the test results were done within the six to eight weeks, because there is a queue to find out the results.

I called the BC clinic to express my disappointment and frustration (politely, but I was obviously upset) and they goosed the Ontario lab to make sure my mother got her results in a more reasonable time frame. So, this past Monday, she found out that she is negative for the mutation that causes Lynch Syndrome which means I don't have it either!

I am SO relieved. All I have to worry about now are fecal tests and maybe an ultrasound every few years. I'm officially no more at risk than anyone else (which is still not great, I guess, but far better than if I'd tested positive).

Now to switch that critical illness insurance policy into something else...

I can't even fathom why a genetic test should take that long, unless they're really backed up or have to order a special array or something. Isolating DNA and running a PCR takes an afternoon.

gravity wrote:

I can't even fathom why a genetic test should take that long, unless they're really backed up or have to order a special array or something. Isolating DNA and running a PCR takes an afternoon.

The test results themselves take about 6 - 8 weeks (the lab gets them done as fast as they can), but in Ontario, you are put into a queue to be told by your doctor in person what those results are, and that's where the waiting comes in.

Here in BC, the whole process is about 10 weeks tops, so I'm not sure why Ontario can't get their poop in a group about it.

Arise! I've got my 23andme results baking in their oven. Hopefully I'll get the first batch of data in the next week or two. I'm mostly curious about it from an ancestry standpoint, since kids are out, and I've not got any pressing health issues that I'm aware of.

Tanglebones wrote:

Arise! I've got my 23andme results baking in their oven. Hopefully I'll get the first batch of data in the next week or two. I'm mostly curious about it from an ancestry standpoint, since kids are out, and I've not got any pressing health issues that I'm aware of.

I just got my results back from 23andme a couple of weeks ago. I got my husband tested too. I took a genetics course thus summer that interested me in doing it. The results were a little surprising both for health and ancestry. First, though I knew my background would be mostly British/Irish, I was surprised to see some Scandinavian DNA. My family's from the American south and our roots go pretty deep there, so I was both surprised and not so surprised to see a small amount of Sub-Saharan African DNA. And one of my top matches is a black man in Memphis (if you haven't yet guessed I'm white). We have a great-grandmother in common, and we are both trying to figure out the story behind the link. There's a fair bit you can do with the data they provide in a lot of areas. And the Neanderthal percentage is cool to know as well.

I can't wait to do those.

This does look interesting! All I know about my own genetics is that I don't have the "get really aggressive cancer" gene (yay!), but this could give me a bigger picture look! $99 seems like a steal to learn all that.

Bah. I seem to have been stuck in a bit of limbo with my testing; there's a batch of samples that were processed in July that seem to be stuck in review, with no updates from the company.

Got all my results in. Looks like the Celiac's confirmed. Apart from that, my health results are actually pretty stellar - no major inheritable issues, other than the Celiac and a lack of resistance to Norovirus (time to avoid cruises forever).

Filling in my genealogies, and seeing whether I've got long lost relatives (I do, but they're all fairly distant) is my current goal. I'd also like my parents to get their testing done, so I can get a deeper understanding of my own results (and their interest has definitely been piqued). My wife's curious to get hers done as well.