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Has anyone had their genome sequenced? Was it worth it? Where did you have it done?
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Has anyone had their genome sequenced?
- Thread starter Elizabeth3333
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linusbert
Senior Member
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- 1,155
yes i did, with 23andme at first, also with fullgenomes and lastly nebula genomics.
after all i'd recommend nebula , they seam to have the most complete package and support. fullgenomes until today didnt send me my BAM file, they also made promises like health reports and analyses which they didnt deliver.
23andme can be beneficial for some web analytics services which are just tailored to them.
but after all i do not think its worth it unless you find a rare genetic disease.
this whole polymorphism thing (like COMT, VDR etc.) which share a prevalence of like 50% with the whole population i do not take serious anymore. also analytics isnt as good as one might hope, there is promethease and genetic genie - and their reports can be overwhelming and not really actionable.
maybe some folks got something out of this. but i did not.
also i got conflicting information. one of the services told me i had homozygote factor 5 blood clotting disorder... whereas others say i do not.
so after all i'd say, if you can afford it without pain, do a fullgenome sequencing with nebula or another provider you like - just to check for rare genetic diseases. promethease and / or genetic genie can analyse your VCF file for this.
after all i'd recommend nebula , they seam to have the most complete package and support. fullgenomes until today didnt send me my BAM file, they also made promises like health reports and analyses which they didnt deliver.
23andme can be beneficial for some web analytics services which are just tailored to them.
but after all i do not think its worth it unless you find a rare genetic disease.
this whole polymorphism thing (like COMT, VDR etc.) which share a prevalence of like 50% with the whole population i do not take serious anymore. also analytics isnt as good as one might hope, there is promethease and genetic genie - and their reports can be overwhelming and not really actionable.
maybe some folks got something out of this. but i did not.
also i got conflicting information. one of the services told me i had homozygote factor 5 blood clotting disorder... whereas others say i do not.
so after all i'd say, if you can afford it without pain, do a fullgenome sequencing with nebula or another provider you like - just to check for rare genetic diseases. promethease and / or genetic genie can analyse your VCF file for this.
Zebra
Senior Member
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- 866
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- Northern California
Hi, @linusbert
Thank you for all that info.
For those interested, Nebula is having a Holiday Sale (roughly 60% off).
https://holidays.nebula.org/
Thank you for all that info.
For those interested, Nebula is having a Holiday Sale (roughly 60% off).
https://holidays.nebula.org/
Zebra
Senior Member
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- 866
- Location
- Northern California
And ... if you live in US, Canada, UK, Austria, or China, you may be eligible for participation in the Personal Genome Project and get your genetic sequencing done for free, provided you consent to the program's terms and conditions. See link below:
https://www.personalgenomes.org/
https://www.personalgenomes.org/
- Messages
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I was also looking into sequencing with Nebula so wondering, @linusbert, if they had a quick turnaround time or if other providers like 23andme were faster.
linusbert
Senior Member
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- 1,155
i dont know exact times anymore. i think 23andme was fastest, nebula was faster than fullgenomes.
Rufous McKinney
Senior Member
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- 13,377
yes, I did it through Ancestry
I'm too cognitively exhausted to attempt to even open the files. Its awful whenever I decide to try to look at the genetic data.
somebody around here posted a thread with some software for understanding some of the results and I generated some reports. Not sure where that person disappeared to.
Zebra
Senior Member
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- 866
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- Northern California
@linusbert
Would you mind fielding a question or two from me regarding the whole genome testing from Nebula?
The company says it will "detect rare genetic variants" and provide "diagnostic ready" material, but it's not clear to me how that information is presented to the client.
Did you receive a report of genetic variants AND the medical conditions associated with them?
Or, did you receive a huge data dump that you had to sift through yourself? (In my current state, I would not be able to do something like that.)
If you would be so kind as to tell me a little bit more, I would appreciate. I am thinking of buying one of the more expensive test kits while it's on sale. Thank you!
Would you mind fielding a question or two from me regarding the whole genome testing from Nebula?
The company says it will "detect rare genetic variants" and provide "diagnostic ready" material, but it's not clear to me how that information is presented to the client.
Did you receive a report of genetic variants AND the medical conditions associated with them?
Or, did you receive a huge data dump that you had to sift through yourself? (In my current state, I would not be able to do something like that.)
If you would be so kind as to tell me a little bit more, I would appreciate. I am thinking of buying one of the more expensive test kits while it's on sale. Thank you!
linusbert
Senior Member
- Messages
- 1,155
yes (they do have reports) and also yes (you get and probably want to do extra research on those raw data files). you get reports as well as all the data. but i feel the reports they generate might not be complete. therefore i would not trust their analysis with my life.
to get nebula reports, you need to have the yeary subscription which costs money. you can also do a one time payment and get lifetime access. the cheapest WGS analysis with lifetime reports cost something like 500$.
you can put their raw data as VCF file throught PROMETHEASE (https://promethease.com/) and genetic genie VUE (https://genvue.geneticgenie.org/) to get a separate analysis and report which is much more complete.
but also them i wouldnt trust for completeness.
someone recommended to get WGS for human genome v37 (i BELIEVE 23andme does v37) and v38 (nebula uses 38). because depending on what version of human reference genome your analyser uses some things might be missing.
nebula reports:
genetic genie gue report:
promethease report:
and of couuuurse all 3 reports show data the other doesnt have. so what is true? i will never know except i do a clinical gen test which the doctor needs to do... and also will be expensive.
a lot of tools are made for genome v37. if they do not recognize you have v38... they show you wild things which actually isnt true. because the same gene variant can be in v37 pathogenic and in v38 the healthy variant or in reverse.
so take everything you get with a grain of salt.
Last edited:
Zebra
Senior Member
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- 866
- Location
- Northern California
Hi, @linusbert
It was so generous of you to show me samples of the different kinds of reports you received. I can't tell you how helpful that is to me and how much I appreciate it.
I was fortunate enough to have been referred to a medical geneticist back in 2017, but felt a bit unsatisfied with the level of testing.
Only my exome was tested, AND, more importantly, only genetic variants that matched my reported "phenotype" were reported by the company that performed the testing.
This "phenotype" was entirely based on the doctor's interpretation of my medical history and symptoms at that time. My doctor said he preferred this method of resulting to avoid what he called "wild goose chases," which I completely understand and was grateful for the gatekeeping at the time.
However, much has evolved since then, both in terms of my condition and medically objective test results, and I've been re-referred back to the medical genetics clinic for another go, but I've become extremely impatient with doctors and the medical system now, and I want to cast the widest net possible, even if that means I've got to filter out some variants of little or no significance.
In any case, I thank you again, VERY much, for all of the information and samples that you took the time and energy to share with me!
It was so generous of you to show me samples of the different kinds of reports you received. I can't tell you how helpful that is to me and how much I appreciate it.
I was fortunate enough to have been referred to a medical geneticist back in 2017, but felt a bit unsatisfied with the level of testing.
Only my exome was tested, AND, more importantly, only genetic variants that matched my reported "phenotype" were reported by the company that performed the testing.
This "phenotype" was entirely based on the doctor's interpretation of my medical history and symptoms at that time. My doctor said he preferred this method of resulting to avoid what he called "wild goose chases," which I completely understand and was grateful for the gatekeeping at the time.
However, much has evolved since then, both in terms of my condition and medically objective test results, and I've been re-referred back to the medical genetics clinic for another go, but I've become extremely impatient with doctors and the medical system now, and I want to cast the widest net possible, even if that means I've got to filter out some variants of little or no significance.
In any case, I thank you again, VERY much, for all of the information and samples that you took the time and energy to share with me!
linusbert
Senior Member
- Messages
- 1,155
get a new doctor. this wild goose chase argument is just stupid. as long as their is no diagnosis a "wild goose chase" is about to be performed or else... the patient stays sick and gets worse.
Interestingly I got mine done like 7 years ago and started treatment based on varied advice, this is actually where the problems come in because you will get varied advice and then actually your personal experience in trying to apply treatment, which seems to be a few key supplements, mainly certain B vitamins, will probably bring about different results and obstacles.
But due to a bit of a crisis last year I have found myself recently taking it more seriously again and further researching and adding a few supplements, it was just tricky years ago due to cognitive limitations, different reactions to things and ideas about my health, although I have maintained some supplementation all those years to some degree, especially at least weekly B12 and fairly regular B2. Now I am adding a more regular folate source, since I have the DHFR mutation, more consistent magnesium and some valine (bcaa) for the COMT to help toleration of methyl donors.
I honestly would get it done, I am more of a believer at the moment that if you have some key mutations, like the MAO-A which seems to be common amongst CFS/ME types, that treatment of the pathways can be quite helpful.
There is a good thread here I found just recently I was reading over, I think it is based on Dr Greg Russell-Jones approach to treatment, who was the person I originally consulted with and who's B12 oils I have been using for years as well. As he also says it is a slow process and you have to correct certain pathways first, like the MAO-A with B2 for a month before adding methyl groups, then 2-3 years of hopefully gradual improvement.
https://forums.phoenixrising.me/threads/sustained-release-methylation-protocol-srmp.36344/
Saying all that who knows how much it may or may not help given an individuals circumstances and whatever underlying issues may be going on, the methylation cycle is pretty dam important though. I also do a lot of things to aid in recovery and functionality, so I am never fully clear on the extent that this helps but I don't doubt that the incredible clarity of mind I have these days at 41 years old is in part to good supplementation.
But due to a bit of a crisis last year I have found myself recently taking it more seriously again and further researching and adding a few supplements, it was just tricky years ago due to cognitive limitations, different reactions to things and ideas about my health, although I have maintained some supplementation all those years to some degree, especially at least weekly B12 and fairly regular B2. Now I am adding a more regular folate source, since I have the DHFR mutation, more consistent magnesium and some valine (bcaa) for the COMT to help toleration of methyl donors.
I honestly would get it done, I am more of a believer at the moment that if you have some key mutations, like the MAO-A which seems to be common amongst CFS/ME types, that treatment of the pathways can be quite helpful.
There is a good thread here I found just recently I was reading over, I think it is based on Dr Greg Russell-Jones approach to treatment, who was the person I originally consulted with and who's B12 oils I have been using for years as well. As he also says it is a slow process and you have to correct certain pathways first, like the MAO-A with B2 for a month before adding methyl groups, then 2-3 years of hopefully gradual improvement.
https://forums.phoenixrising.me/threads/sustained-release-methylation-protocol-srmp.36344/
Saying all that who knows how much it may or may not help given an individuals circumstances and whatever underlying issues may be going on, the methylation cycle is pretty dam important though. I also do a lot of things to aid in recovery and functionality, so I am never fully clear on the extent that this helps but I don't doubt that the incredible clarity of mind I have these days at 41 years old is in part to good supplementation.
SWAlexander
Senior Member
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- 1,942
I had my DNA done with 23andme.com.
The "Raw Data" and summery report revealed VWF in Gene 12, HLA-DQA1 gene and muscle weakness.
Later tests confirmed that HLA-DQA1 (celiac disease) was in fact APS.
I´m glad I did the test because I could use DNA information to have tests confirm present illnesses.