Genetic Testing in Canada

It’s been a while since there’s been a question re: genetic tests.

I have a lifelong sensorineural hearing loss and I’ve been wondering, for the last 10 years or so, exactly which gene is the root cause of my loss. So, I’d like to get my genes checked out. Grandkids aren’t on the way anytime soon so I can’t get a freebie genetic counselling and a test - via my kids - from my provincial government. On the National Center for Biotechnology Information’s web site I found a list of labs around the world that perform various genetic tests ( https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=C0236038 ). However, there’s only one Canadian lab, LifeLabs Genetics, that does a deafness panel ( Deafness and hearing loss panel (autososomal dominant and recessive) - Tests - GTR - NCBI ). Curiously, it’s a stone’s throw from me - so far, yet so close! My understanding is that I’d have to pay my GP to draw the blood for this test, she orders test, and I pay for it. I haven’t got around to the interpretation of the results yet… one step at a time…

Has anyone in Canada done the LifeLabs Deafness Panel test?

I was listening to a recent Science Friday podcast celebrating the 20th anniversary of the completion of the first human genome sequence. One of the items that they discussed was at the start of the genome sequencing project they thought, “Great! Now we’re going to be able to find the gene or few genes responsible for each genetic malady…” The expert being interviewed said that 20 years later, it has been realized that there are very few maladies for which just one or a few genes cause or influence a predisposition to get a disease that has strong genetic underpinnings. The expert said that probably for most maladies influenced by genes that there are hundreds if not thousands of genes that influence whether you get the disease and how bad it is. The good news about sequencing is that the guest said a complete and fairly accurate human genome sequence can now be done in less than a day for less than a thousand dollars. The person said that decades ago, she used to spend years studying how a single gene is expressed. Now she said, it’s easy for a scientist to study how all the genes in a cell type are expressed (or why bioinformatics - the use of computers to handle and analyze massive amounts of data is important these days).

So you could easily get all your DNA sequenced for less than 1/6th the MSRP of a pair of premium HA’s. But it may not tell you very much. They’re still looking for the answers to go along with all that information…

Lessons From The Human Genome Project (sciencefriday.com)

P.S. Shirley Tilghman, the first speaker in the podcast is the person I’m referring to. After her part, the podcast went a bit downhill into some highly colored views of some other guests about the pros and cons of freely sharing genetic information vs. monetizing it. I hope knowledge about the human genome will be “open source.”

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Not sure this will help, but www.joinallofus.org is supposed to do DNA for free, but it could take a long time. Clinical Triasl will sometimes do one, as an intake qualifying test, NKF is doing an www.kidney.org/atoz/content/alport trial for instance.

That is, if it is really genetic you mean. Did anyone told you it really is / has big chances that it is?

I mean, under hood of that ‘loss type’ goes everything from hereditary to sudden, it’s often just a rough term to describe it’s cochlear / nerve issue and not bone / middle ear issue.

Being born with such loss doesn’t automatically mean it’s hereditary, neither for how you got it nor for if it’s passable to others.

Some stuff that are known causes (some obviously not applicable for newborns) for such loss are - consequence of a disease, medications, or unfortunate event (blod clot, ‘ear attack’, noise exposure over time or huge sudden one). Disease also does not have to be hereditary. I’d dare to put environmental factors for newborns (like something else that might be ototoxic for newborns but is not medicine and is not ototoxic for mother, so we might not even know it yet).

I’d suspect genes only if I see the same thing from birth at two consecutive generations. Otherwise, insane amount of factors can be ‘the cause’, and we probably won’t be able to find it.

It would be cool to have guilty genes and then really know it. Cool from technology perspective, not as for your future. But I think we’re not even barely close to that yet.

Also, even if you have gene for something, that doesn’t mean it will happen to you, especially not from the moment of conception. Yes, you have big/bigger risk, but many other factors play a role. Like, if you have gene for breast cancer x, it’s entirely possible you’ll still never get that cancer. Odds might be low, point is that gene for x usually comes with ‘but it doesn’t guarantee 100% this event will happen’.

I mean, I’m working with what you’ve told here, if you have big documentation about it, you definitely know more about causes. However in case you were only told it’s sensorineural loss and that’s only thing you know about it, then it’s worth to be aware of many other factors and learn more about your loss, as opposed to just paying several thousands and still might get no answers you’re looking for.

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I am in Ontario and had several genetic tests done recently (within the last few years). This was done by referral from my GP to a geneticist. However it was not primarily to determine the cause of my hearing loss. Rather, hearing loss is a symptom of the genetic disease(s) I was being screened for, so finding out more information about my hearing loss’ cause was diagnostically relevant to the other health issues. Ultimately, I was diagnosed with Stickler Syndrome (which itself is associated with hearing loss) and tests also indicated that an ESPN gene mutation may contribute to my hearing loss and vestibular issues.

I have had hearing aids for about 15 years but my father got his first pair in 2019. I have seen his audiogram and it’s almost a carbon copy of mine despite the 31 years between us. Given the genetic results, I am satisfied beyond doubt that his hearing loss is not primarily age-related, nor mine due to noise exposure as was originally suggested to me in 2006. He may or may not ever be tested for Stickler, but it’s clear I inherited it from him.

I mention the diagnostic relevance component above because OHIP (or your equivalent provincial health insurance) may not pay for a panel either directly by your GP or a geneticist if you are investigating a cause based on curiosity but may instead require some specific diagnostic investigation beyond “wanting to know” (otherwise we might all be offered this as a matter of course). When I last checked, the out-of-pocket cost of these genetic panels when obtained directly from providers can be thousands of dollars.

In terms of logistics, it is indeed a matter of having blood drawn and sent away for analysis (multiple samples at once in my case for several tests, only some of which were hearing-related). Mine was taken at a hospital lab because that’s where I was at the time but LifeLabs is pretty much everywhere in Canada (I go to one for my usual lab work) so you may well be sent there.

@UNIVAC-9400: Welcome to this great forum and its helpful and knowledgeable members!

I can’t answer your specific question, but I want to share this: we have Newfoundland dogs. One is a whole male, whom we may breed at some point.

The big fella has had some ailments that could be genetic in origin, or the result of issues in utero, or even the result of the type of floor surface he was raised on.

Knowing to what extent his issues are heritable will certainly affect our decision to collect and freeze semen for later use, and we’ve sent a swab away to a US lab for testing. But that’s eugenics, and I don’t know exactly how (or whether) genetic analysis of audition should impact human breeding …

If genetic sequencing could discern whether our boy’s imperfections were heritable, or whether they’re an artifact of environmental or nutritional variables, it would constitute valuable breed/no breed information. But the knowledge will have absolutely no impact on his quality of life, or on our management of his known medical conditions.

But I’m not certain what an *ex post * genetic analysis brings to the table, because that information is not useful in determining the best treatment for a human’s auditory dysfunction.

If the motivation to genetically analyse a person’s hearing loss is to decide whether or not to have children, that’s *eugenics *, and I am definitely unqualified to comment.

If the sequencing could enhance one’s chances of preventing hearing loss in an unborn child, or improve its treatment after birth, I could see some value to it. Otherwise, I see limited utility flowing from it, other than satisfying one’s curiosity about the cause of one’s affliction .

I’m inclined to agree with @Blacky: that, in the final analysis, today’s genetic screening techniques for auditory conditions may very well be of unknown diagnostic utility, and of questionable value in terms of better managing hearing deficiencies that present after birth.

My $0.02/YMMV

Last year I got a Cochlear Implant at Sunnybrook in Toronto. In the process, they asked me if I was interested in being part of a genetic study Dr Le at University of Toronto was conducting into the genetic reasons for hearing loss. In my family a number of males have loss.

I agreed to participate and they took two vials of blood for testing, asked me a couple pages of questions, and when I did my 3-month post-CI activation testing, they did extra comprehension tests for the research project.

Hopefully this kind of research helps they find the genetic markers that lead to hearing loss later in life. If I ever hear about any results being published, i’ll come back to this thread in the future.

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It’s a US lab that found my DFN (deafness) gene mutation, but I still hope this is helpful information for you UNIVAC-9400, and if not, maybe it’s helpful for others. The University of Iowa runs the MORL (Molecular Otolaryngology and Renal Research Laboratories), a sequencing group that runs a biobank of blood specimens from folks with genetic hearing loss. The physician who leads it is Dr. Richard Smith MD. The screening panel they offer is OtoSCOPE™.

They also have a fascinating machine learning algorithm called AudioGene that predicts your gene mutation from your audiogram and your age. You enter the information and it emails its predictions to you. They are also working on 3-dimensional audiograms plotted across frequency, loudness and age, to create a colored surface of how these three things vary. That makes a lot of sense because many genetic losses are progressive over time.

If I could comment on a more personal note, I think knowing one’s genetics is helpful to HOH individuals, to their relatives–who can monitor their hearing and prognosis if needed–and to science in general. I also understand the delicacy, especially after reading about prenatal screening for hearing loss. It was unsettling for me to realize, if my parents had done in vitro fertilization, that I would have been one of the embryos left behind in the Petri dish with my DFNB12 mutation. Wasn’t it Paul Simon who sang, “these are the days of miracle and wonder”…

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Fascinating website! Not sure that I really understand the 3D graph. Is there a key somewhere. I get the 3 different axes. Not sure what the color coding is and the other incidental markings.
Is there a charge for the testing?

I don’t know the charge for testing, I apologize.

Here is a scientific article on the 3d audiogram, but for someone like me who still counts on my fingers, it is a little complex:

It does, however, show pictures of surfaces. On the pictures, when the colors remain dark blue, the frequency is low, hearing loss is low, age is low. As the surface bends and becomes of warmer color, that is increasing frequency, loss and age. A surface with early high frequency loss would, for example, turn redder and bend more sharply downward than the surface from a person with normal hearing, which would primarily change along the age axis. The images hopefully show how these three variables–frequency, sound intensity (hearing loss) and age–work together to make a surface. I hope some of the engineers and more mathematically-trained folks here can answer your question better than I.

Thank you very much. Just skimmed, but it looks like a great resource. I’ll have to look again, but my graphs had more of a U-shape rather than downsloping like pictured in the article. Thanks again. The article is exactly what I was looking for.

Sure thing! I’m glad it’s helpful. My surface is different from many of the published ones, too. I also don’t remember seeing any cookie bite or reverse cookie bite ones.

I have a fair amount blue, even in my 60s. But starting early (e.g., age 6 or so) the highest frequencies begin to fail and just plummet–they turn red (profound loss) early, in my late teens/ 20s. So I get a rainbow–with my contact with Deaf Culture the pot of gold at the end of that rainbow. Judging by your audiogram, yours will have some color too, and just a tiny bit of orange or red in the highest frequencies. I wish they would give people the option to enter their own data to generate their 3D audiograms. It would make a spectacular artwork display.