r/ClinicalGenetics

I am interested in doing whole genome sequencing (WGS). Does anyone here have any experience, positive or negative, with current DTC providers?

Prior recommendations seem like they aren't a great idea. Nebula has a huge backlog and dubious financial position. Dante labs also seems to be collapsing. Sequencing.com uses Chinese labs currently blacklisted by the DOD. Invitae was bought by LabCorp and no longer DTC. Researcher providers like All of Us Research seem to have stopped providing people with their WGS results.

Some names that do come up that I am curious about: Psomagen, YSEQ, tellmeGen, SelfDecode, Nucleus Genomics, Sano Genetics.

Disclaimer: This is already in collaboration with my doctor. We are looking for some specific things and having them all go through clinical genomic testing is far more expensive than a DTC 30x WGS test. I do not need any assistance with data interpretation, just need reliable raw data. If a major health risk is flagged, I am prepared to do confirmatory clinical testing.

My son was born with VACTERL impacting his kidney, urinary system, and anus. We’ve decided to meet with genetic counselor and discuss genetic testing to determine if there’s anything else or if this is something he should consider for if/when he decides to have kids later in life. (He is 6 years old right now). I thought it’s better to know more so we can always get him the best help possible, however when they brought up the option to get secondary results my first thought was ‘yes, no doubt’. I would want to know just in case there’s anything we could possibly prevent or make lifestyle changes to. But now I don’t know… what if we learn he’s at a high risk for some type of cancer? I don’t think I could handle the anxiety if it’s something completely out of our control. But on the other hand I’d be so upset if we found something out down the road that I COULD have helped prevent. I just don’t know… please help. My heart hurts just thinking about it all. Are secondary findings few and far between?

I know that the obsurin gene is huge and controls various things. I wonder what is known so far on pathogenic mutations given that most papers seem to be very new. I had full genome/exome sequencing with search results based on symptoms. A heterocygotic mutation on something autosomal recessive in that gene came up as only thing. One month on I'm still waiting for the report to learn the name of this mutation. The phone call was a 3 minute affair, informing me that this mutation causes burning muscle pain, early fatigue, rhabdo and is related to how muscle cells function and that I need two copies of this mutation. Questions I sent by email after this call remained unanswered. I had just discussed with my neuromuscular specialist a few days before this call that for various reasons I feel my problem is related to how my muscles handle calcium, and here mainly in getting the muscles to relax again after doing anything, really. Based on what I find, parts of this gene seem to be responsible for pushing calcium out of cells and back into the endoplasmatic reticulum. The rest fits as well, even though I've not had rhabdo since childhood for unknown reason. Heck, my CK is always just above lower reference value in whatever situation.

Thus questions: How much is known on this gene and pathogenic mutations on it in general? Is there a possibility to be mildly symptomatic when only having a heterocygotic pathogenic mutation and especially the calcium part, should my mutation be part of that range? Is it possible that this testing was too superficial and there might be other mutations that work hand in hand with OBSCN (damn, love that abbreviation!) that require 'deeper' searching or different analysis to show up?

Way forward is now to get a muscle biopsy to extract mtDNA for further testing, but this will still take a few months to happen, and next appointment in neuromuscular department would be next year. Yeah, things are that slow. Main symptoms: cramps and stiff muscles for hours after doing anything, exercise intolerance, burning and early fatigue but normal strength and endurance building possible, distal muscles worst affected, repeated rhabdo as a child, lots of tests indicating some Mg and Ca issues and exercising on a low level possible if I supplement Mg ahead of it, exercise tests show very early switch to glucose/glycogen and no change despite years of training.

My child (9M) has autism diagnosed at age 4. At the time he received an autism DNA test by GeneDx with their Autism panel which I was told that tests 20,000 known genes for autism through a clinical study/grant to the medical university. It came back negative. The GC offered us WGS but because our insurance did not cover this particular test and we declined.
Few years later we decided to pursue WGS for our son. He was getting a work up for seizures and this time even though our insurance doesn’t cover it we went decided to go for it. it showed a deletion on 2p16.3 and in a gene NRXN1. My question is it possible that the first gene test missed it. And how common is it?
*maybe I should have asked our GC but I was afraid to look like I’m challenging the result. Which im not.

I'm 28 weeks pregnant and my amniocentesis just revealed that our son has an extremely rare triplication of the short arm of Chromosome 11. The area affected is 11P12->P11.12.

Unfortunately neither my specialist nor the geneticist are able to provide any useful information as this has never been reported before. They're categorizing it as VUS, and there have only been two other cases of this involving duplications, not a triplication. My husband and I have both undergone testing and are awaiting results.

I am heartbroken and devastated to say the least and I'm just looking for anyone who might have a similar experience/insight.

My partner and I are waiting to hear if we are positive for a specific gene variant that causes Noonan Syndrome. Reason for testing is our baby was found to have it through prenatal testing. We terminated the pregnancy due to the uncertainty of what her life would be like. It has been 4 weeks and the test turnaround time is 4-6 weeks. We have no telltale signs of this syndrome but I know a significant number of cases are inherited so I am worried sick about the results. I’ve heard that people with normal results get them back sooner. Is this true? TIA!

Hi there,
I terminated a pregnancy due to a fetal anomaly 3.5 months ago. We did genetic testing on my baby (amniocentesis), myself and partner and some of the results are still pending. My genetic counsellor always just cold calls me with no heads up or warning beforehand, even when she is giving bad news (like when they discovered my baby had a genetic mutation). I am usually at work when she calls and either miss the call (my job doesn’t allow me to have my phone on me at all times) or take it and have to leave my workplace to go to my car to speak privately and then return to work and hope I can mask my emotions.
Is this a common way to give results? I would like to ask if she can schedule the calls or use the portal to give me results through a message I can check later , so that I am in a safe space when I get news.

Can future genetic therapy remove existing melanin in the iris at large?

Hey guys,

I’m waiting on whole exome sequencing results and the clinic emailed saying their team is reviewing everything and they’ll book a follow-up appointment to go over the results.

Now I’m kind of spiraling a bit

Just wanted to ask that did anyone here also have to do a call/appointment even when the results came back normal?

Or is being called in usually a sign that something was found?

Would really appreciate hearing what your experience was. The waiting is honestly the worst part.

Thanks 🤍

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We faced 2 pregnancies with Severe Bilateral VM, Short long bones , frontal boasing and other brain abnormalities in 2019 and 2025 at 13-15 weeks gestation and terminated them by MTP

Both pregnanies were reccurent phenotype and normal karyotype and CMA results. No abnormality . So genetic issue is almost certain. We are 3rd degree consagnious couple.

We did TRIO WGS for 2025 fetus and US parents. The result was out and its disappointing. They only listed some template pathogenic unrelated harmless genes. So we requested RAW files. We had the 2019 DNA also stored and are about to give WGS for that sample.

With those RAW VCF files in hand ,can we find some answers for our reccurent fetal ambonrnality? Are there any online bioinfirmatics that look at rare cases to guide us as these labs are only fixated on template pathogenic variants and not interpreting VUS in reports .Our hope is to find a GENE so that we can targtet it through PGT M.

Am i hoping too much ? is this practical .Any leads/ sites that i can approach using these RAW data ?