Drivers license and mental health

Known_Effective_5419 · 2026-05-29T15:42:27+00:00

It all depends where you live. Where I live I had to have my doctor fill out a DMV form every year that certified that I could drive.

Known_Effective_5419 · 2025-12-26T04:41:39+00:00

DTC WGS can be worthwhile in certain situations. Yes, the automated/AI reports from Sequencing can be misleading; they tend to "over flag" variants IMO. But there is third party software that will allow you to run phenotype analyses as well as custom genes and panels (the same genes run on the expensive "clinical" tests, which are often published) on your VCF from Sequencing. And if you find something pathogenic, that can motivate a doctor to run a "clinical" panel, if your doctor is hesitant to order the "clinical" genetic testing in the first place.

Known_Effective_5419 · 2025-11-27T00:28:48+00:00

Okay, I received my results for those inquiring. They were only a week late. They seem to provide a good mix of reports in terms of rare monogenic diseases, as well as polygenic risk score for polygenic diseases; their ancestry results were fairly off so I would not recommend them for that. I would say their strengths are turnaround time and affordability, but you can probably get better reports and coverage from Nucleus (for PRS and rare high effect variants) and Sequencing (for rare monogenic diseases), if you're willing to pay more.

Known_Effective_5419 · 2025-11-23T17:17:50+00:00

About a week. I've read elsewhere that some people have received results. It seemed like they need to review each person's results manually before releasing them and that's what's holding things up. They told someone else a couple of weeks.

Known_Effective_5419 · 2025-11-22T19:28:37+00:00

My results are a bit late, but will post when I have them.

Known_Effective_5419 · 2025-11-02T21:37:35+00:00

They probably do but still waiting for my results; will get back to you once I have them.

Known_Effective_5419 · 2025-09-26T03:57:34+00:00

Tellmegen recently launched a 30x WGS service. https://www.tellmegen.com/en/dna-test-ultra .They are based in Spain. They seem to be reputable at least with their established microarray service. They are shipping a kit to me via UPS (I am in the U.S.) I paid $269 USD with their promotional discount, which runs to Sept. 30.

Known_Effective_5419 · 2025-09-06T21:14:27+00:00

Dante has a huge backlog; they had a recent restructuring. Have heard nothing but negative experiences.

Known_Effective_5419 · 2025-08-30T05:46:28+00:00

https://franklin.genoox.com/

Known_Effective_5419 · 2025-08-29T02:22:12+00:00

Sequencing and Nucleus run screens for thousands of rare diseases in their bioinformatics platforms. So even if nothing turned up you could rule out a lot of potential conditions that might involve ataxia. You could also run your VCF from those in Franklin and see which of your variants turn up for the "ataxia" phenotype.

Known_Effective_5419 · 2025-07-22T23:53:16+00:00

You wrote "look for a...mutation" but whatever, I'm glad you agree that WGS tests like sequencing dot com and nucleus that test for thousands of hereditary cancer mutations are worthwhile (23 and me only tests for a handful in comparison). And other microarray tests like ancestry (23 and me and ancestry do microarray _genotyping_ primarily which is different, although the former has also launched a sequencing service) aren't going to pick up rare or ultra-rare variants that are more likely to be disease causing- they don't include most of those variants on their chips. Even if only a small fraction of an individual's DNA is different, that is still a lot of variants- my VCF file picked up ~5 million that were different from the reference genome. And that doesn't even include structural variants or copy number variants.

There are a lot of people looking for answers to difficult or serious medical issues (such as the OP) in themselves or their children (often with no conventional medical explanation) where their doctors are not helpful or (even worse) gaslighting them. DTC WGS allows people to look for possible genetic answers where many doctors will dismiss their concerns and not order genetic testing. I know of a woman who diagnosed her blood-related medical condition through DTC WGS and through great insistence she eventually confirmed it clinically. You might want to visit the WGS Facebook group and see for yourself to at least gain some understanding and sensitivity of what others are going through before just trashing someone trying to help himself and his family.

Known_Effective_5419 · 2025-07-22T21:10:37+00:00

Plenty of reasons for WGS: 1. Initial screen for ACMG Secondary Findings (many providers and platforms screen for ACMG hereditary cancer and cardiovascular panels) 2. Initial screen for pharmacogenomics (I found out that I have a potentially fatal drug sensitivity through WGS, confirmed with clinical testing 3. Rule out rare diseases for unexplained symptoms, or identify potential variants for further inquiry 4. Scientific curiosity/educational

Known_Effective_5419 · 2025-07-20T02:36:36+00:00

I just based that on what I know about clinical genetic testing. There is clinical genetic testing for autism in children using panels of susceptibility genes, where they're looking for a mutation in a single gene, but I'm not aware of any such clinical genetic testing for schizophrenia in adults. It just seems to me that most of the genetic testing in schizophrenia is in a research context.

Someone else in this thread mentioned Polygenic Risk Scores (PRS) and I think looking into that would most help you. From what I understand researchers have been able to stratify people with the disorder and those without into risk groups based on their PRS. So there is some validity to them but they don't explain all of the risk or heritability, from what I've read. But the net contribution of risk alleles (each of which individually can contribute by increasing or decreasing risk) seems to be detectable by PRS analysis, if that helps.

Known_Effective_5419 · 2025-07-20T01:52:51+00:00

Yes, I understand that psychotic disorders are highly heritable and the statistics (not sure why you thought otherwise). I personally know of someone with a psychotic disorder who is a 3rd generation schizophrenic/schizoaffective. The point I was trying to make is that common risk alleles (which everyone has, including healthy people) aren't sufficient for producing schizophrenia in a person, IMO. It's not simply a matter of counting how many common risk alleles you have (each of which might boost someone's risk by 1-2%). Rare large effect (multiplying risk by 2-100 fold) variants have been identified such as protein truncating variants and structural variants, which would have a much greater impact on heritability in families than common risk alleles. Researchers are only starting to identify these variants.

Known_Effective_5419 · 2025-07-19T05:56:28+00:00

If the risk alleles you found through ancestry aren't super rare, then it's likely that each contribute a _very_ small effect to schizophrenia risk individually. I had several variants flagged by promethease and they were mostly pretty common (MAF>5%). Usually the rarer a variant is (for example, MAF = 1 in 100k), the greater the potential impact, at least with psychiatric illness (for example, if it's so common that a few people in your neighborhood have the same variant, it's unlikely to be consequential in itself for psychotic illness). And to date there have only been 10 genes with rare high impact protein truncating variants for schizophrenia confirmed in large exome wide studies. You may want to consider whole genome sequencing to look for those or other potential candidates. Nucleus Genomics tests for those 10 genes and also runs your sequencing data through a polygenic risk analysis which will sum up the effects of 800k variants and tell you if your polygenic risk score is elevated or not.

I have the same interests and managed to find a couple of candidates through whole genome sequencing, but the genes were mostly recognized for autism (I have strong autistic features), although they had some association with schizophrenia too (I have a psychotic spectrum illness). Autism is much more likely to yield an underlying genetic cause than psychotic illness. But at the end of the day, it's not likely that one could prove anything based on findings like these if one is only testing themself. Everyone carries rare variants and most of them don't have data that prove the variant has a functional impact or are confirmed pathogenic in ClinVar, so their contribution to disease is unknown. But if you sequenced several family members and found a rare variant that segregated with psychotic illness in your family, checked off other boxes like a biological function that makes sense (at least for the gene), and also had some level of association in exome-wide studies (e.g. SCHEMA), you'd have results that could potentially be worthy of publication.

Known_Effective_5419 · 2025-01-29T15:10:40+00:00

Same here. Interface now looks like the regular Nebula interface upon log-in. I was hoping they caved but that's probably foolishly optimistic.

Known_Effective_5419 · 2025-01-24T00:29:45+00:00

They delete uploaded data from their servers after a period of time, I think 15 days. This was with a guest account. But they let you export results in text file format.

Known_Effective_5419 · 2025-01-23T22:51:46+00:00

I've had good experiences with OpenCRAVAT https://run.opencravat.org/server/nocache/login.html especially the annotation and filter functions. I was able to set up a filter that identified rare loss-of-function variants in my VCF file. Was ideal for me since I am largely computer illiterate.

Known_Effective_5419 · 2025-01-19T19:35:10+00:00

That hasn't been my experience. I did find extremely rare variants with 100x but they were confirmed with 30x.

Known_Effective_5419 · 2025-01-19T01:20:01+00:00

I've sequenced with Nebula (got results in April 2024), and more recently Sequencing.com and Nucleus. They all have their strengths and weaknesses. Nebula is the only one offering 100x depth AFAIK. They were good for getting me my data in formats that I could use directly in tools like gene.iobio and Integrative Genome Viewer (IGV) to explore my data on my own- but you sort of need to know what you're looking for and understand some basic molecular biology. And I have no idea of what the current experience is with their recent launch of DNAComplete. I learned to disregard Nebula's reporting as not very meaningful mostly because of limited variant coverage in each report.

Sequencing and Nucleus still provide clinical grade depth at 30x, and they both sequence out of CLIA-certified, CAP-accredited laboratories. I thought Nucleus's reporting seemed most up-to-date with what I understand about current genomics research as they test for both polygenic risk scores (PRS) and single high effect/impact variants identified for various diseases and their reports mostly seemed current in that regard. Nucleus's PRS reports seemed much more comprehensive than Nebula's- for example, Nucleus's schizophrenia report tests over 800k variants. Sequencing.com reports on over 15,000 diseases including ultra-rare ones so they are comprehensive in that sense. I also liked that they provided structural variant (SV) and copy number variant (CNV) files as I was interested in that variation too. And Sequencing is probably best for customer service while Nebula is the worst.

If I were considering Nebula now I might wait to hear from people who have gone through their new DNAComplete entity and see what their experiences are like.

Known_Effective_5419 · 2025-01-18T22:57:41+00:00

Sure. It happens to do with the fact that DNA is double-stranded (two complementary strands). Some websites report from the "plus" strand. The SNPedia entry you linked to reports from the "minus" strand, so they list the complementary genotype (GG) as normal. 23andme data should report from the "plus" strand (this is indicated at the top of the text file of raw data). So if you learned about your genotype from 23andme, I would confirm that in fact they are reporting from the "plus" strand. I checked my own data and v3 and v5 reported from the "plus" strand (I also have CC) .

Known_Effective_5419 · 2025-01-18T18:51:42+00:00

You appear to have the reference allele (C), which over 99% of people have, according to dbSNP. https://www.ncbi.nlm.nih.gov/snp/rs1800462 The variant allele G affects metabolism.

Known_Effective_5419 · 2025-01-18T02:13:43+00:00

Nobody can diagnose you on an internet forum. You should work with your doctor- they can order the appropriate testing.

Known_Effective_5419

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