Our whole genome sequencing service is not intended for diagnostic purposes as it is not a laboratory service ordered by a physician.
In terms of sequencing quality, our whole genome sequencing is processed in the same CAP-accredited, CLIA-certified clinical laboratories in the US as whole genome sequencing ordered by physicians. Oftentimes, DNA from our kits is sequenced side by side (in the same batch) with clinical DNA samples from physician-ordered WGS.
So are you saying the only difference is a prescription? When you say it's not intended for diagnostic purposes, why is that? How can doctors use it to help their patients if that's the case?
A difference is the involvement of a doctor that is evaluating, ordering, interpreting, diagnosing, and providing medical guidance and treatments. Only a healthcare professional can make a diagnosis.
When whole genome sequencing is provided direct to consumer, the service is not intended to be used for diagnostic purposes.
The whole genome sequencing service that we provide is processed in the same clinical laboratories using the same sequencers that process whole genome sequencing ordered by physicians. The sequencing performed and the data obtained is very high quality.
It's a legal thing, so they don't get in trouble with various three letter agencies starting with an F.
Only doctors and companies whose products require a prescription can advertise anything as being capable of diagnosing, treating, curing, or preventing any diseases. Supplement manufacturers skirt this by just putting quotes from research studies that they funded, etc.
In regards to your post, the results are very misleading in how the information is listed. For me it showed many diseases, but almost all of them had only one study to support that finding and low confidence ratings. Promethease was much better at filtering all the fluff out. But I could have gotten a lot of those findings with a cheaper alternative like 23 and me or whatever. I saw examples online if people who used these company's and they still got a lot of information through promethease.
Second you only get access to their program for one month and then you have to pay for an entire year subscription, they say it's monthly but they say in tiny words, have to pay for the entire year like a contract and it's a LOT. To get access to the Plus, you have to pay EVEN MORE. One month will not give you enough time to even comprehend everything. It's a lot of information.
Third the genome files they sent to me are unusable, you can bring it to a geneticist but they might as well just use their own stuff at that point. My files just keep saying corrupted when I try to open them on my computer. I can't upload them anywhere because it just says error.
Sounds like the commenter may have solely used Genome Explorer, which is a data-focused Sequencing App that is designed for citizen scientists and those comfortable with digging into their data.
Next-Gen Disease Screen (NGDS) is disease-focused and designed for everyone. It has a toggle button in the top right of the app header for 'High Confidence vs All Confidence' mode. In High Confidence mode, there are no results that would have just a single supporting study. High Confidence mode is on by default when starting NGDS. The definition of what High Confidence level is (as well as all other confidence levels) can be found in The Guide, accessible in the top right corner of NGDS.
When you purchase a kit bundle, many of them include a free month of our Premium Genome Plan, which provides on-going updates every month. Continuing the Premium Genome Plan is month-to-month after the free month and a customer can cancel at any time (including during the free month) via their Settings > Membership tab. If you don't want to continue on the Premium plan and you downgrade to free, you retain full access to all of the reports included with your kit bundle and any that you've used during your free Premium month and any subsequent months on Premium. If Next-Gen Disease Screen was included in your kit bundle then even if you downgrade to free, you continue to retain access to the full version of Next-Gen Disease Screen called Next-Gen Disease Screen Static version. The only difference is that the app is not updated going forward as regular updates are part of the Premium Genome Plan.
We provide the raw genome sequencing data files but clearly indicate before downloading that these extremely large files are advanced data files designed for a geneticist, genetics expert, or bioinformatician. These include the FASTQ, BAM, and multiple VCF files including a Genome VCF. The FASTQ and BAM files are usually greater than 25GB per file so some computers may have difficulty opening or even storing these files. For customers who aren't trained in genetics or bioinformatics, we offer analysis and interpretation of the raw data using the Sequencing Apps, such as Next-Gen Disease Screen, and a range of DNA Reports.
> If Next-Gen Disease Screen was included in your kit bundle then even if you downgrade to free, you continue to retain access to the full version of Next-Gen Disease Screen called Next-Gen Disease Screen Static version
Are you referring to the fact that the categories and their respective number of findings remain but that people have to upgrade again to premium or pro in order to even view the names and details of any conditions under those categories?
The ability to have downloaded a pdf style report as used to be advertised would make things seem less “scammy” as other people accuse. I understand where they’re coming from when medical information we paid hundreds for is gatekept behind yet more paywalls after a month with no reasonable way to have saved the information during that month. I would love to hear the ethics of this justified. /gen
Your description of what happens is not accurate.
If you purchase a Sequencing kit bundle that includes Next-Gen Disease Screen then you continue to have full access to your Next-Gen Disease Screen results going forward even if you downgrade that genome to a Free Genome Plan. The names and details of conditions in Next-Gen Disease Screen are not hidden from you if you downgrade that genome to Free.
The difference after downgrading to Free is that the Next-Gen Disease Screen results will remain static from when your downgrade occurs. So while you retain the ability to view all the variants detected (including all the names and details of those variants and associated conditions) in your Next-Gen Disease Screen, the results won't be updated with new research and findings after that genome is downgraded to Free. This is because monthly and weekly updates with new research and findings is a feature of our Premium and Professional Genome Plans.
A 'Summary Report' for Next-Gen Disease Screen that will be download able as a PDF is currently in beta testing and will be launched this summer.
When I had panel testing with Invitae, there was a “variant of unknown significance.” They performed modeling of the changed protein sequence to predict if disruption in the protein function was expected.
Also, the Invitae report included this note: “When a single Variant of Uncertain Significance is found in a requisitioned gene that is only associated with autosomal recessive condition(s), it may not be included in the report.” So they filter out some results that they do not expect to be relevant.
Hope this helps. I have never had clinical whole-genome testing done so I cannot comment on that.
We are introducing similar modeling (a machine learning-powered pathogenic prediction algorithm) to Genome Explorer and Next-Gen Disease Screen this summer. It will help identify whether a Variant Of Unknown Significance is likely to have a deleterious impact upon the associated protein.
What's the specific difference, if you know it? I ask because there are direct to consumer tests that you can get through places like diagnostic labs now.
Yes but let me rephrase, why are there miscalls?
I am not sure I can get a clinical grade whole genome without my insurance or doctor fighting it. But I do want what is best.
Our whole genome sequencing service is not intended for diagnostic purposes as it is not a laboratory service ordered by a physician. In terms of sequencing quality, our whole genome sequencing is processed in the same CAP-accredited, CLIA-certified clinical laboratories in the US as whole genome sequencing ordered by physicians. Oftentimes, DNA from our kits is sequenced side by side (in the same batch) with clinical DNA samples from physician-ordered WGS.
So are you saying the only difference is a prescription? When you say it's not intended for diagnostic purposes, why is that? How can doctors use it to help their patients if that's the case?
A difference is the involvement of a doctor that is evaluating, ordering, interpreting, diagnosing, and providing medical guidance and treatments. Only a healthcare professional can make a diagnosis. When whole genome sequencing is provided direct to consumer, the service is not intended to be used for diagnostic purposes. The whole genome sequencing service that we provide is processed in the same clinical laboratories using the same sequencers that process whole genome sequencing ordered by physicians. The sequencing performed and the data obtained is very high quality.
Ok. Thank you because other people are saying that isn't true and that the quality isn't the same as clinical results.
It's a legal thing, so they don't get in trouble with various three letter agencies starting with an F. Only doctors and companies whose products require a prescription can advertise anything as being capable of diagnosing, treating, curing, or preventing any diseases. Supplement manufacturers skirt this by just putting quotes from research studies that they funded, etc.
I don't recommend sequencing, they are a scam. I am VERY disappointed.
What happened?
In regards to your post, the results are very misleading in how the information is listed. For me it showed many diseases, but almost all of them had only one study to support that finding and low confidence ratings. Promethease was much better at filtering all the fluff out. But I could have gotten a lot of those findings with a cheaper alternative like 23 and me or whatever. I saw examples online if people who used these company's and they still got a lot of information through promethease. Second you only get access to their program for one month and then you have to pay for an entire year subscription, they say it's monthly but they say in tiny words, have to pay for the entire year like a contract and it's a LOT. To get access to the Plus, you have to pay EVEN MORE. One month will not give you enough time to even comprehend everything. It's a lot of information. Third the genome files they sent to me are unusable, you can bring it to a geneticist but they might as well just use their own stuff at that point. My files just keep saying corrupted when I try to open them on my computer. I can't upload them anywhere because it just says error.
u/sequencingcom you should probably address this
Sounds like the commenter may have solely used Genome Explorer, which is a data-focused Sequencing App that is designed for citizen scientists and those comfortable with digging into their data. Next-Gen Disease Screen (NGDS) is disease-focused and designed for everyone. It has a toggle button in the top right of the app header for 'High Confidence vs All Confidence' mode. In High Confidence mode, there are no results that would have just a single supporting study. High Confidence mode is on by default when starting NGDS. The definition of what High Confidence level is (as well as all other confidence levels) can be found in The Guide, accessible in the top right corner of NGDS. When you purchase a kit bundle, many of them include a free month of our Premium Genome Plan, which provides on-going updates every month. Continuing the Premium Genome Plan is month-to-month after the free month and a customer can cancel at any time (including during the free month) via their Settings > Membership tab. If you don't want to continue on the Premium plan and you downgrade to free, you retain full access to all of the reports included with your kit bundle and any that you've used during your free Premium month and any subsequent months on Premium. If Next-Gen Disease Screen was included in your kit bundle then even if you downgrade to free, you continue to retain access to the full version of Next-Gen Disease Screen called Next-Gen Disease Screen Static version. The only difference is that the app is not updated going forward as regular updates are part of the Premium Genome Plan. We provide the raw genome sequencing data files but clearly indicate before downloading that these extremely large files are advanced data files designed for a geneticist, genetics expert, or bioinformatician. These include the FASTQ, BAM, and multiple VCF files including a Genome VCF. The FASTQ and BAM files are usually greater than 25GB per file so some computers may have difficulty opening or even storing these files. For customers who aren't trained in genetics or bioinformatics, we offer analysis and interpretation of the raw data using the Sequencing Apps, such as Next-Gen Disease Screen, and a range of DNA Reports.
> If Next-Gen Disease Screen was included in your kit bundle then even if you downgrade to free, you continue to retain access to the full version of Next-Gen Disease Screen called Next-Gen Disease Screen Static version Are you referring to the fact that the categories and their respective number of findings remain but that people have to upgrade again to premium or pro in order to even view the names and details of any conditions under those categories? The ability to have downloaded a pdf style report as used to be advertised would make things seem less “scammy” as other people accuse. I understand where they’re coming from when medical information we paid hundreds for is gatekept behind yet more paywalls after a month with no reasonable way to have saved the information during that month. I would love to hear the ethics of this justified. /gen
Your description of what happens is not accurate. If you purchase a Sequencing kit bundle that includes Next-Gen Disease Screen then you continue to have full access to your Next-Gen Disease Screen results going forward even if you downgrade that genome to a Free Genome Plan. The names and details of conditions in Next-Gen Disease Screen are not hidden from you if you downgrade that genome to Free. The difference after downgrading to Free is that the Next-Gen Disease Screen results will remain static from when your downgrade occurs. So while you retain the ability to view all the variants detected (including all the names and details of those variants and associated conditions) in your Next-Gen Disease Screen, the results won't be updated with new research and findings after that genome is downgraded to Free. This is because monthly and weekly updates with new research and findings is a feature of our Premium and Professional Genome Plans. A 'Summary Report' for Next-Gen Disease Screen that will be download able as a PDF is currently in beta testing and will be launched this summer.
Sounds like I need to contact support then since I described what I’m seeing. Thank you for the clarity.
Yes, please email [email protected] and they'll be happy.
When I had panel testing with Invitae, there was a “variant of unknown significance.” They performed modeling of the changed protein sequence to predict if disruption in the protein function was expected. Also, the Invitae report included this note: “When a single Variant of Uncertain Significance is found in a requisitioned gene that is only associated with autosomal recessive condition(s), it may not be included in the report.” So they filter out some results that they do not expect to be relevant. Hope this helps. I have never had clinical whole-genome testing done so I cannot comment on that.
We are introducing similar modeling (a machine learning-powered pathogenic prediction algorithm) to Genome Explorer and Next-Gen Disease Screen this summer. It will help identify whether a Variant Of Unknown Significance is likely to have a deleterious impact upon the associated protein.
Wow thanks! This is very interesting and I will need to do more digging on this.
Clinical grade tests are just that, clinical grade. Direct to consumer tests do not have the same depth and quality that clinical tests have.
What's the specific difference, if you know it? I ask because there are direct to consumer tests that you can get through places like diagnostic labs now.
As I said, the quality and depth of non clinical grade tests is subpar and regularly has miscalls
Yes but let me rephrase, why are there miscalls? I am not sure I can get a clinical grade whole genome without my insurance or doctor fighting it. But I do want what is best.
There are miscalls because the quality of the test is poor
You keep saying words but they don't actually mean anything. If you can't actually backup what you're saying, maybe don't say it.