I have an appointment scheduled for genetics counseling/testing in a couple months. Since (as far as I know) I don’t personally know anyone who’s had genetic testing, and I’ve seen a few people post about it on this board, I wanted to pose a few questions to anyone who has experience with genetics counseling. If you haven’t gotten it yourself, but someone close to you has and you feel like you can answer some/all of the questions below, I’d love to hear your thoughts as well.
Why did you get the counseling? Who determined that you were a “good candidate” (so to speak) for genetic testing, and on what factors was this based?
What was the counseling portion of the appointment like? What did they talk about with you?
Did you decide, after getting the counseling, to go through with testing? Why or why not?
What did the testing look like? How was your DNA taken, how long did it take to get results? And if the results were bad, how did they follow up with you afterwards?
I have had pharmacogenomic testing, but no counseling. I have tried dozens of antidepressants since 1986 with no positive outcomes and plenty of negative side effects. At least now I know why SSRIs, SNRIs and tricyclic antidepressants don’t work. I am a CYP2D6 null metabolizer, which means I have two non-functional alleles for the liver enzyme that metabolizes most antidepressants (and opioid pain relievers as well).
I requested the test by Genelex from my primary care doctor, who received a kit for taking buccal swab samples from inside my cheeks. It took a couple weeks to get results, and I had to pay for it myself, as my insurance wouldn’t cover it. It was about $400, and covered about a dozen genomes related to the metabolizing of medications and neurotransmitters. That was in 2016, so testing, prices and insurance coverage have probably changed.
my younger brother died of Huntington’s disease so I got tested for it and I’m negative. I talked to a genetic counselor, neurologist and psychiatrist all on the same day. Took about a month to get results back and they told me results in person. My older brother has not been tested but he’s 65 so he would have seen symptoms by now. Huntington’s is similar to ALS but worse since every nerve cell in your body does not work right including all brain cells. It’s caused by 1 bad gene. CRISPR may be able to provide a cure by fixing that bad gene. They are also testing drugs and so far in limited testing some look promising .
Yes, sort of - I had both my colorectal tumor and my breast tumor tested to see which form of cancer I had, and I also had an oral swab taken for a more complete run through to check for more negative genes.
None of it would have affected me having kids if it had happened at say 25 [by which time I had already had a tubal ligation] and pretty much nothing I did would have given me or not given me cancer, it was pure random shake of the dice. All I can do is emphasize breast self exam, and getting your colonoscopy done.
I have retinitis pigmentosa, a heritable degenerative disease of the retina. There are at least 50 different genes that can cause the syndrome, and a few years ago a company that’s working on treatments provided free screening tests to people with RP so they can identify the genes worth targeting. I think the screening panel, which looks at about 30 of the known possible genes, would’ve cost me a few thousand dollars if I’d had to pay for it. I had to ask my ophthalmologist
to request the kit, which he got in a week or so and handed off to me. I did the cheek swab at home, sent it in, and they sent the result packet back to my doc within a few weeks.
He just passed the packet on to me, since he knows squat about genetics. I had worked for a couple of genomics software companies in the past, so I have slightly better than a layman’s understanding of the results, and definitely more than him. Turns out I have deletion polymorphisms on both alleles of the C2orf71 gene, which is associated with RP-54, which has an autosomal-recessive inheritance pattern. This is consistent with the observation that no one else in my family has RP, and neither of my kids show any symptoms of it, thank goodness. Interestingly, the particular deletions are different on each allele, and neither had been reported before in studies of that gene. I think the previous reports had involved small consanguineous populations where the same polymorphism on both alleles causes a relatively high incidence of the phenotype. So, basically, I got two different bad copies of the gene from my parents (they are unrelated except insofar as all Ashkenazi Jews are from a relatively small original population).
The screening test included a post-test session with a genetic counselor, which I had over the phone. She basically went over the results and asked me a few followups about family history, and sent me a plain-English writeup of what we discussed. The whole thing was fairly low stakes for me, since I’ve already fathered all the children I ever will, and the disease is untreatable but not fatal (unless I get pasted by a truck I failed to see).
Oh, this brings up another thing I’ve been thinking about but hadn’t included in my OP. My GCP warned me that if I get genetic testing and something bad showed up, that it could negatively affect my ability to get insurance coverage. I’ve tried to research this further online. My understanding is that the Genetic Information Nondiscrimination Act prevents health insurers from denying you coverage based on your genes; however, they are lawfully allowed to jack up your premiums if they know you’re high risk. Also saw warnings that it can affect your ability to procure life insurance and disability insurance. She mentioned that not using insurance to pay for the testing could help me keep the information private. Anyone else know anything more about genetic test results affecting insurance rates?
Have you read Inside the O’Briens by Lisa Genova? It’s about Huntington’s disease and family members deciding whether or not to get genetic testing to see if they have it, too. What made you decide to get tested, and your older brother to decide against it?
So … are you implying that nothing of note showed up in the genetic tests?
Are you familiar with Molly Burke? She’s a YouTuber I subscribe to with RP.
I am not. I almost never go to YouTube, since I can no longer interpret most visual media, but I’ll check her stuff out (probably not the makeup videos, though ).
My nephew was diagnosed with a recessive genetic condition, and we found out right after my son was born. I got myself tested to see if I was a carrier, that was simpler than testing a newborn, and since I was negative, it also ensured that any future kids were in the clear.
It was mostly just meeting with the doctor, having blood drawn, and providing the information on my nephew’s tests so they could look for the exact gene in question.
My brother married into a large tight knit French Canadian family from Quebec. One by one the members of that family suffered from a confusing medley of debilitating symptoms that eventually took the lives of I think 8 out of 12 kids. My SIL passed last year after decades of declining health. God bless my brother who kept her out of a nursing home and who remained by her side through it all. Geneticists discovered ahe and her siblings carried a gene mutation in those of FC ancestry. They also discovered the BRCA gene that caused my SIL breast cancer as if Parkinson’s, Neuropathy and brain Ataxia weren’t enough of a burden she required a mastectomy. Some of her male siblings developed various aggressive cancers.
The family, most not all, have received genetic counseling and I’ve heard those that have the BRCA gene have opted for mastectomies and breast reconstruction.
So where did it all start? Was one sick person who was exhibiting symptoms referred to counseling, and once he/she tested positive, the geneticist suggested that blood relatives get tested for those same genetic mutations?
Pretty much. I know my brother took his wife to many many institutions trying to get a definitive diagnosis. For many years no one knew what was going on. It was the whole family that really pushed for answers and eventually they were selected to participate in a study, at John Hopkins maybe?
Yup. Only thing that my oncologist says could have contributed is my working in the nuke industry and my work as a hazmat tech … and that it took the nuke bit 30 years to do anything, and 40 years for my work in haz mat to do anything. If anything, it could also be dietary - I eat meat and drink caffeine bearing beverages [coffee and tea] and occasionally alcohol. [to be honest, given that I was working with asbestos/graphite packing and litharge, I was more worried about my lungs than my ass or tits.]
I have kids so that’s the main reason I got tested for Huntingtons. And their mother wanted to know as well. Don’t know why my brother did not test never asked him.
Seems to me that it’s entirely plausible that your genes contributed to the cancer even if your tests came back negative. Everything I’ve read about genes and disease indicates that the relationship is incredibly complex, and that often there’s not a single gene that causes a particular disease, but the interaction of hundreds of different genes. And even if a single gene mutation can cause cancer doesn’t mean that we’ve actually discovered that gene mutation yet.
My brother has a genetic disease and I had a 50/50 chance of inheriting it from my mother as he did.
They simply asked me if I would agree to be tested. Since I was asymptomatic I could have refused.
I agreed to be tested because I wanted to know if I had the gene variant my brother had.
A simple cheek swab. The results came back in a week that I was positive for the same variant my brother had. Additional testing was done to confirm I had the same disease as my brother. To this day I remain asymptomatic, although I learned I passed it on to my daughter, who had passed it on to my grandson, and that’s a big problem. I wish I had been tested 37 years ago when my brother was first diagnosed.
I have a puzzled look on my face right now. You could have refused either way. I mean, as far as I know, if you’re an adult of sound mind you can make your own medical decisions and can refuse any treatment or intervention you want. How did being asymptomatic make a difference? Are you just saying that the geneticist really didn’t think it was a big deal whether or not you were tested?
And also, it sounds to me like if all they did was ask you if you want to be tested, that you didn’t receive genetic counseling at all, only genetic testing. Right? I thought genetic counseling involved going over the risks of getting tested or not getting tested.
This prompts some follow-up questions as well. Do you mind sharing what disease it was, or is there a reason that you’re not mentioning that part? Why is passing it on a big problem – isn’t it possible that they remain asymptomatic as well? Or have you already seen the disease manifesting in your grandson?
And finally, I’m wondering how you view your decision to get genetic testing in hindsight, knowing that you have the disease but exhibit no symptoms. I mean, if I were in your shoes, I imagine that knowing that I had this in my genes and could start showing symptoms at any time would give me some anxiety. However, if I knew that I had a 50/50 chance of having the disease anyways, then I don’t think that knowing 100% would give me any more anxiety than knowing 50%. I’d rather know, just to have an idea of what I’m dealing with. But that’s my thought process, and I’m curious to hear what yours is.
Final question: Why do you wish you had been tested 37 years ago? Would you have done something differently if you had known earlier?
You’re right. Being asymptomatic didn’t have anything to do with my agreeing to the testing or not. As you stated, I could have refused for any reason, but at that point, I wanted to know.
The geneticist didn’t think it was a big deal since she assumed I didn’t have it. She was shocked to find out I did. The odds of someone having the disease and being asymptomatic are incredibly small. The reason she wanted to test me was so that she could “close the books” on my family. The disease is called Adrenoleukodystrophy (ALD) and it has many phenotypes from Adrenal Insufficiency to Cerebral ALD. My brother has the Adrenomyeloneuropathy (AMN) phenotype which causes demyelination of his spinal cord and he has mostly lost the ability to walk at this point.
All she did was ask me to be tested so they could verify I didn’t have the variant. Once it was confirmed that I had the variant there was no genetic counseling for me since I was 65 and my current wife and I weren’t planning on having any children.
My daughter was born before my brother was diagnosed so I had already passed the variant to her, so knowing I had it wouldn’t have changed that fact. Since it’s an X-linked inheritance my daughter had a 100% chance of inheriting it from me. She had my grandson not knowing she had the variant. She developed some symptoms of ALD soon after he was born.
It matters for my grandson because Cerebral ALD mainly impacts boys less than 12 years old (he’s 8 years old). It used to be 100% fatal but now is treated with a fairly risky Bone Marrow Transplant that arrests the cerebral disease. Had I known I had it it wouldn’t have mattered for my daughter, but she would have had genetic counseling regarding getting pregnant. Her children have a 50% chance of inheriting it from her. So even though my brother, myself, and my grandson had a 1 in 2 chance of getting it, we all beat the odds and got it.
If I had known 37 years ago I would have had my daughter go to genetic counseling. Whether that would have stopped her from getting pregnant I can’t say. These days you can utilize IVF to select embryos that don’t that the variant, but it’s very expensive and insurance doesn’t cover it.
nobody in my family or aunts, uncles, cousins, etc other than my brother has/had HD
The neurologist told me that my brother could have had a different father than me. That might be the most likely cause or it could have been a gene defect when he was formed from mom and dad DNA
My youngest grandson and my daughter have tested. My grandson has auditory neuropathy so his first testing and genetic counseling was for known comorbidities, including Ehlers-Danlos. His paternal uncle had the more severe vaacular version of that and died young from an arterial rupture that could not be treated in time. Luckily, the grandkid does not have that.
They were both tested recently for research on kids with auditory neuropathy and hearing parents. For that, we would be notified if there was something in a list of potential concerns but there has been nothing.
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