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Whole genome done - now what?

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I purchased a 130X+30X whole genome test from Dante Labs (130X for the exome, 30X for the rest of the genome) and downloaded the raw files. I've heard that there are softwares you can use to scan them for genes associated with rare illnesses and so on. I assume that, unlike ME/CFS, this kind of thing is being well funded and studied heavily so there must be a lot of good info out there. Can someone point me in the right direction?

Thanks
 
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Be prepared for this to be a long journey, requiring lots of learning and reading papers on your part if you really want to dig. Check and cross-check. Learn about MAF, CADD, ClinVar, dbSNP, alleles, chromosomes, gnomAD browser............

ME patient @kday developed free tool GenVue (formally genetic genie). Donations accepted
https://genvue.geneticgenie.org/

Other paid tools folks on PR have used
https://www.enlis.com/
https://livewello.com/genetics
https://promethease.com/
https://sequencing.com/tests/health

This paper compares third party tools
Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior
 

ellie84

Senior Member
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Stupid question maybe, but excuse my ignorance. :) After whole genome testing, can one pay for a genetic counselor to interpret it?
 

merylg

Senior Member
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I purchased a 130X+30X whole genome test from Dante Labs (130X for the exome, 30X for the rest of the genome) and downloaded the raw files. I've heard that there are softwares you can use to scan them for genes associated with rare illnesses and so on. I assume that, unlike ME/CFS, this kind of thing is being well funded and studied heavily so there must be a lot of good info out there. Can someone point me in the right direction?

Thanks
https://www.enlis.com/ and https://sequencing.com/tests/health

I also purchased most of the panels Dante offered at reasonable cost. At times they had special offers.
 

ellie84

Senior Member
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What I meant is, why not save yourself all the hassle of interpreting and instead pay a genetic counselor, in real life, to do it and give you a report? Is it because it's not possible or it costs too much or what?
 
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Trust me.. I tried this ellie84. You wont find anyone offering this kind of service for externally made WGS or WES.

I did the WGS by Dantelabs and they now offer genetic counseling which i can fully recommend. I just had my skype consulting last week. You will need to purchase the Dante Reports however.

I have a medical WES from the hospital that my insurance covers. But usually this costs about 10k+. Because the real hard task is to evaluate the data especially for mutations and variants that are not yet listed on clinvar. Dante reports will ofc only list reports already made on ClinVar.
 

BeADocToGoTo1

Senior Member
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Is it really worth the time, effort and money? Are these genetics tests or epigenetics tests? It can be theoretically interesting, but are there any actionable steps that can come from knowing whether a flag is set a certain way, i.e. would it be any different?
 
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Trust me.. I tried this ellie84. You wont find anyone offering this kind of service for externally made WGS or WES.

I did the WGS by Dantelabs and they now offer genetic counseling which i can fully recommend. I just had my skype consulting last week. You will need to purchase the Dante Reports however.

I have a medical WES from the hospital that my insurance covers. But usually this costs about 10k+. Because the real hard task is to evaluate the data especially for mutations and variants that are not yet listed on clinvar. Dante reports will ofc only list reports already made on ClinVar.
Do they also offer non-skype consultation ? Can you explain a bit more what they did etc?
Are these real geneticists? And what about tests that you already did years ago, are they okay too?
 
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@BeADocToGoTo1 it was very worth it to me, as I have questionalbe mitochondrial Variants that are now under new investigation in the local hospital with their own WES.

@hopeforaday22
They offer different platforms, maybe even phone. My appointment was with a researcher from an university in rome that has also publicated his own studies already. A very smart guy that was very helpful.
They outsource their consulting to real geneticists with research background. I guess, "in collaboration", they also share genetic information needed for their research ; ))))

They will only look at your DANTE data. No other data! And also only at Dante REPORTS based on clinVAR finds.
 

BeADocToGoTo1

Senior Member
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@BeADocToGoTo1 it was very worth it to me, as I have questionalbe mitochondrial Variants that are now under new investigation in the local hospital with their own WES..
Hopefully they will be able to provide you with some concrete help!

I am very curious what you find out in terms of epigenetic (as I am assuming that is what they are testing) settings and recommended actions (medicines, supplements, dietary changes, etc.).

Do they dive into the metabolic pathways that can be impacted by your personal epigenic settings and provide actions based on those?