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Where to get your full genome sequenced?

wgs genome sequencing exome personalized medicine future

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#1 CaptainFuture

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Posted 20 September 2014 - 01:56 PM


Hi all,

 

does anyone know, where normal people can get their full genomes sequenced? After the FDA went down on 23andMe, things slowed down a lot. Despite the fact, that WGS gets cheaper and better, the normal consumer is excluded from this market. Especially in european countries, with socialized healthcare, it is not possible, to get WGS, when not checking in with special clinics and having rare diseases.

 

So I'm very curious, if anyone knows a company on this planet, which offers WGS either after a short consultation with a doctor or without physician involvement at all. Does anyone think, that 23andme will offer WGS anytime soon (next 1-3 years?).

 



#2 YOLF

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Posted 20 September 2014 - 07:47 PM

Is 23 and me really shut down? I thought they were still able to run tests...



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#3 YOLF

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Posted 20 September 2014 - 07:54 PM

Ah! So they don't provide the reports anymore. Perhaps what we need is a public database that we can run our 23andme data through as a sort of open source effort. 

 

That really sux that 23andMe is getting shafted like this. This data could really help people and substantially improve medical care.



#4 ta5

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Posted 20 September 2014 - 08:30 PM

Perhaps what we need is a public database that we can run our 23andme data through as a sort of open source effort.

 



#5 YOLF

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Posted 20 September 2014 - 08:49 PM

Looks awesome:

 

 

rs2802292(T;T)

Bad Repute 2.5 Magnitude plus Orientation 34.4% Frequency 0.449 GMAF 8 References FOXO3 Gene 6 Chromosome 108908518 Position 2.5 Max Magnitude 20140331 Rs time
Less likely to live to 100. Unfortunately, this version of FOXO3 has reduced longevity. It has lower insulin sensitivity, increased oxidative stress, and increased risk of diabetes and heart disease. If you are concerned about longevity, you may want to support Aubrey de Grey's SENS Research Foundation, or join the Life Extension Foundation.

 



#6 CaptainFuture

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Posted 21 September 2014 - 07:32 AM

The problem I see with 23andMe is the fact, that they only cover around 1/3600 of a full genome. They had a full exome sequencing trial some years ago but never picked up on it again. As far as I'm concerned I wouldn't go for anything less, than a full genome. I'm happy to have ordered 23andMe before the ban on reports was implemented, but I want access to my full genome. It's funny, that government prevents me from this. The medical field seems highly hostile to innovation regarding -omics and new therapies in general. The approval procedure is much too expensive (around 1 billion per drug) and takes much too long (around 12 years on average). You can imagine, that a vast majority of new drugs never reach the market, despite being effective in specific subgroups.

 

What I would like is a company like 23andMe, to offer WGS. This would be a huge boost to a new era of personalized medicine. Until then, we are stuck in the last century.


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#7 YOLF

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Posted 21 September 2014 - 07:24 PM

I'm surprised someone hasn't started doing this off shore. That would allow us to still get WGS done in the mean time. WGS is definitely attractive, but I have no problems with accuracy claims as long as they are accurate enough that any pre-emptive interventions I do will do substantially more good than bad for my health. I can always get a better WGS done when the more advanced and more accurate technologies become available. But to scoff at something that can improve one's health because it's not complete enough or is slightly less accurate than much more costly methods is just ridiculous at a $100 price point. The sooner we can improve our health with this data the better. At $100, I wouldn't mind getting one of these done every 6-12 months as new and improved methods became available. 

 

Is the insurance bureaucracy involved in this?


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#8 niner

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Posted 22 September 2014 - 03:05 AM

The problem I see with 23andMe is the fact, that they only cover around 1/3600 of a full genome. They had a full exome sequencing trial some years ago but never picked up on it again. As far as I'm concerned I wouldn't go for anything less, than a full genome. I'm happy to have ordered 23andMe before the ban on reports was implemented, but I want access to my full genome. It's funny, that government prevents me from this. The medical field seems highly hostile to innovation regarding -omics and new therapies in general. The approval procedure is much too expensive (around 1 billion per drug) and takes much too long (around 12 years on average). You can imagine, that a vast majority of new drugs never reach the market, despite being effective in specific subgroups.

 

What I would like is a company like 23andMe, to offer WGS. This would be a huge boost to a new era of personalized medicine. Until then, we are stuck in the last century.

 

The government isn't preventing anyone from getting WGS.  There's either no one offering it (at a price you'd be willing to pay) or if they are, you haven't found them yet.  Do you understand enough bioinformatics and genetics to make any use of a whole genome?  The SNPs that 23andMe offer are the most useful part of your genome.  That's the part that we understand the best, at the moment.

 

The government's beef with 23andMe wasn't that they were offering sequencing to people like us, it's that they were making health claims (without adequate evidence, in the FDA's estimation)  to naive consumers, in a television ad, of all things.  That was the straw that broke the camel's back in their case.

 

Didn't George Church have a genome project where they were going to do full sequences on a bunch of people?  It was going to be possible to get it for little or no money, but your genome would potentially get out into the world- you'd have to be ok with that.



#9 CaptainFuture

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Posted 22 September 2014 - 04:47 PM

 

 

 

The government isn't preventing anyone from getting WGS.  There's either no one offering it (at a price you'd be willing to pay) or if they are, you haven't found them yet.  Do you understand enough bioinformatics and genetics to make any use of a whole genome?  The SNPs that 23andMe offer are the most useful part of your genome.  That's the part that we understand the best, at the moment.

 

The government's beef with 23andMe wasn't that they were offering sequencing to people like us, it's that they were making health claims (without adequate evidence, in the FDA's estimation)  to naive consumers, in a television ad, of all things.  That was the straw that broke the camel's back in their case.

 

Didn't George Church have a genome project where they were going to do full sequences on a bunch of people?  It was going to be possible to get it for little or no money, but your genome would potentially get out into the world- you'd have to be ok with that.

 

 

There is no company, which offers WGS directly to the consumer. I found one from Eastern Europe, which offers exome sequencing for 900 USD but their site went offline some months ago. Does a doctor need to have a strong background in bioinformatics to interpret the results of a genetic test? Do customers of 23andMe need a strong background in bioinformatics? No. It's enough when programmers have it. Analysis (not sequencing) of a whole genome costs around 3,000 to 4,000 USD. This is expensive but sooner or later software will do the job. When you inhibit demand however, there will be no supply, at least not as fast, as if consumers had access to their genomes without a clinic or physician as intermediate. I know, that George Church offers WGS but there are several eligibility criteria, the most important one, you have to be living in the US.

 

Regarding 23andMe and the FDA, what makes me mad is the fact, that the FDA allows everything when it goes through genetic counselors and/or doctors. Who is the FDA and all other health insitutions to block companies from offering genome sequencing, when they don't make false claims? And in this case, it is very, very hard, to allege 23andMe of having made false claims. On every site they requested customers to consult their physicians and on every site they explained what risk and probability means. 

 

PerC made an excellent point, however. Why does no company work offshore and offer WGS from there? I don't know the answer to this one.


Edited by CaptainFuture, 22 September 2014 - 04:47 PM.

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#10 niner

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Posted 23 September 2014 - 01:56 AM

 

The government isn't preventing anyone from getting WGS.  There's either no one offering it (at a price you'd be willing to pay) or if they are, you haven't found them yet.  Do you understand enough bioinformatics and genetics to make any use of a whole genome?  The SNPs that 23andMe offer are the most useful part of your genome.  That's the part that we understand the best, at the moment.

 

The government's beef with 23andMe wasn't that they were offering sequencing to people like us, it's that they were making health claims (without adequate evidence, in the FDA's estimation)  to naive consumers, in a television ad, of all things.  That was the straw that broke the camel's back in their case.

 

Didn't George Church have a genome project where they were going to do full sequences on a bunch of people?  It was going to be possible to get it for little or no money, but your genome would potentially get out into the world- you'd have to be ok with that.

 

... Does a doctor need to have a strong background in bioinformatics to interpret the results of a genetic test? Do customers of 23andMe need a strong background in bioinformatics? No. It's enough when programmers have it. Analysis (not sequencing) of a whole genome costs around 3,000 to 4,000 USD. This is expensive but sooner or later software will do the job. When you inhibit demand however, there will be no supply, at least not as fast, as if consumers had access to their genomes without a clinic or physician as intermediate. I know, that George Church offers WGS but there are several eligibility criteria, the most important one, you have to be living in the US.

 

Regarding 23andMe and the FDA, what makes me mad is the fact, that the FDA allows everything when it goes through genetic counselors and/or doctors. Who is the FDA and all other health insitutions to block companies from offering genome sequencing, when they don't make false claims? And in this case, it is very, very hard, to allege 23andMe of having made false claims. On every site they requested customers to consult their physicians and on every site they explained what risk and probability means. 

 

Doctors are presented with very simple yes/no results from genetic tests, so they don't need much specialized knowledge (beyond their medical training) to interpret them.  A whole genome sequence, on the other hand, is multiple gigs of data dumped in your lap.  If you pay someone 3-4k USD to interpret it, then you don't need to know very much.  If you want to interpret it yourself, you need to know a lot. 

 

It's not a matter of false claims, but rather of unproven claims, which may or may not be false.  The FDA wants health claims to be supported by evidence.  If 23andMe had not overpromoted their health claims, they could still offer analysis of SNP data.  Everyone is still free to get their genome scanned at the level of SNPs for the bargain price of 99 USD.  They can upload that data to Promethease and get a lot of analysis, if they are so inclined.    I think you should do that, considering what a bargain it is, and wait a year or two for a full sequence.

 

I'm not sure why you think that demand for full sequences is being inhibited.  No one is stopping anyone from doing it, as far as I can see.



#11 Kalliste

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Posted 23 September 2014 - 05:35 AM

This is an area we should not forget. I wonder if somebody will offer the possibility of re-scanning a submitted genome on regular basis, say every 18 months to make use of new findings. I would be OK with paying for that.

23andme did behave in a clumsy manner, someone should have warned them. I did get my scan before it went down, it didn't make a lot of sense to me although it did not show me suffering any massive risk from things like Alzheimers, cancer, CVD. But I understand it doesn't cover everything. I'm going to re-do testing every 5 years if it's available.


Edited by Cosmicalstorm, 23 September 2014 - 05:35 AM.


#12 Brett Black

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Posted 23 September 2014 - 05:45 AM

I'm not sure if this will be readily available to consumers, but here's whole genome sequencing from a South Korean company (they are throwing around a "$1000" figure, not sure how that translates to the actual final cost):
http://www.macrogen....ss/xgenome.html

Edited by Brett Black, 23 September 2014 - 06:00 AM.


#13 niner

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Posted 23 September 2014 - 07:44 PM

23andme did behave in a clumsy manner, someone should have warned them. I did get my scan before it went down, it didn't make a lot of sense to me although it did not show me suffering any massive risk from things like Alzheimers, cancer, CVD. But I understand it doesn't cover everything. I'm going to re-do testing every 5 years if it's available.

 

23andMe didn't go down.  They just stopped reporting health risks.  They still do sequencing and you can still download your data.  You can get it analyzed at Promethease or some other sites.   When there's a new version of the gene chip, you might want a new scan if it covers some new SNPs that you're interested in.  Your genome doesn't change, but our knowledge does, so you might want to resubmit your data to Promethease once a year or so, in case it has some interesting new information.


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#14 CaptainFuture

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Posted 24 September 2014 - 05:02 PM

 

23andme did behave in a clumsy manner, someone should have warned them. I did get my scan before it went down, it didn't make a lot of sense to me although it did not show me suffering any massive risk from things like Alzheimers, cancer, CVD. But I understand it doesn't cover everything. I'm going to re-do testing every 5 years if it's available.

 

23andMe didn't go down.  They just stopped reporting health risks.  They still do sequencing and you can still download your data.  You can get it analyzed at Promethease or some other sites.   When there's a new version of the gene chip, you might want a new scan if it covers some new SNPs that you're interested in.  Your genome doesn't change, but our knowledge does, so you might want to resubmit your data to Promethease once a year or so, in case it has some interesting new information.

 

 

 

I also ordered 23andMe before the ban on reports went into effect but I think we all can agree, that ordering such a test is not enough. In the case of 23AndMe, Promethease may be enough but what about a whole genome? As you pointed out, analysis or interpretation is important but I would order WGS even without analysis.

 

The problem is, that the majority of people have no intention to study bioinformatics. In a free market, this is no problem, since people who study bioinformatics will put their wisdom to work, if the incentives (mostly monetary) are right. In our world however and this is what you see with the FDA, no company dares to offer such information because they will get sued or put out of business. Even if the company says, that the information it offers is vague and should never be taken seriously and every consumer should contact his/her doctor etc., it would not be allowed to offer analysis directly to the consumer.

 

How do I know this? Because there is no such company but demand is there. So either you have a good bank account and make an appointment at Mayo clinic, where they will order WGS including analysis or you don't have access to your genome. The biggest joke is, that you can't even order only the sequencing part. We have the machines and in a free market, companies would offer it. Why? Because the demand is there. You can be sure, that not every Illumina sequencer is working to capacity. The easiest thing for all of those companies would be to offer WGS for 2-3k and generate some revenue. Why don't they? Because they are afraid to get sued and because of FDA regulation. 



#15 maximum411

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Posted 24 September 2014 - 11:15 PM

You are right about George Church's study- it's called the Personal Genome Project. Anyone can enroll and get their whole genome sequenced for free, on the condition that it is published anonymously online for the public to see and use for research. I enrolled and had a blood sample collected in July, so I should have my genome within a few months. The study is ongoing and they are aiming to sequence 100,000 genomes.

#16 niner

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Posted 24 September 2014 - 11:25 PM

 I enrolled and had a blood sample collected in July, so I should have my genome within a few months.

 

Cool!  What will you do with your sequence?   I looked into the PGP very early on, and decided not to follow up on it for some reason- I forget now exactly what the problem was; maybe the hassle of a blood draw.  At some point, a complete sequence will undoubtedly be a good thing to have, but I'm still having a hard time seeing why I would need to know every base.  What can you get from a whole sequence that you can't get from a well-chosen set of SNPs?



#17 maximum411

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Posted 25 September 2014 - 12:10 AM

The genome sequence you get from PGP can be downloaded as a file that can be opened by third-party genome analysis software like Promethease, which gives you information on SNPs/gene variants, just like 23andme, and is continually updated over time to reflect new information. The difference is that you get continually updated information on your whole genome to reflect new discoveries, rather than on the small selection of SNPs that 23andme chose to examine at the time of your test. 

 

I also just think it's cool to have my complete genome sequence- the full set of instructions necessary to create me sitting on a file on my computer. 


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#18 xEva

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Posted 25 September 2014 - 04:18 AM

@maximum411: But will you get your data? Here is what they say:


"our ability to sequence your genome will depend on our success in securing funding and affordable sequencing services for the study. These are all things we are actively working toward, but it is difficult to predict how long it will take and there are no guarantees that we will be able to provide biological analyses, including DNA sequencing, for every individual who enrolls in the study.



#19 maximum411

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Posted 25 September 2014 - 05:35 AM

Yes, they don't guarantee it for liability reasons and because funding can be unreliable, but George Church is the most famous geneticist in the world and has no trouble getting funding. Researchers I spoke to at the blood draw told me that there is a queue but that realistically, I can expect my genome within several months.

#20 CaptainFuture

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Posted 25 September 2014 - 04:13 PM

Just for info. Illumina says 228,000 human genomes will be sequenced this year and the price will probably stay the same over the next years.

 

http://www.technolog...nced-this-year/


Edited by CaptainFuture, 25 September 2014 - 04:13 PM.


#21 Brett Black

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Posted 15 October 2014 - 02:25 AM

This company appears to be willing to provide whole genome sequencing to the general public:
http://www.cd-genomi...Sequencing.html

#22 PWAIN

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Posted 15 October 2014 - 08:49 AM

Anyone want to get a quote?

This company appears to be willing to provide whole genome sequencing to the general public:
http://www.cd-genomi...Sequencing.html



#23 Brett Black

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Posted 15 October 2014 - 09:19 AM

Anyone want to get a quote?

This company appears to be willing to provide whole genome sequencing to the general public:
http://www.cd-genomi...Sequencing.html


That website is full of "unconventional" English syntax, which made me feel a little suspicious. I googled the U.S. and British addresses given for the company and found that they link to a building that offers "virtual offices." (http://stjohns.co.uk/) I also found two other biomedical websites using the same contact details: http://www.creative-animodel.com & http://www.creative-pharmalabs.com. The second website shows the operation has links to China. It all makes me a little wary. They may be completely legit, professional and high quality, but I'd be doing some further investigations if I was considering using them.
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#24 CaptainFuture

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Posted 01 November 2014 - 04:27 PM

I have to apologize. There is one trustworthy company which offers WES and WGS. It's called Gene by Gene. The prices are pretty high but the offer is better than nothing.

 

https://www.genebyge.../pages/research

 

WES for $ 1,300

WGS for $ 7,400

 

 



#25 mag1

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Posted 08 November 2014 - 08:41 PM

We have done a whole exome scan for US $650 at 65x coverage and are very pleased with the information we received from the scan.

 

The 23andme scan is mostly reporting markers that are fairly common: the exome scan tells you about things that are very specific to you

and your family. The scan revealed some very interesting leads, many of these leads were things we had never heard of before. The illnesses related to them do not have proper names, instead they usually refer to obscure enzyme deficiencies etc. that most doctors would not be familiar with. 

 

Here are some suggestions, if others are also interested in having an exome scan. 

 

Don't wait! Scan your Exome Now! 

 

The exome scan revealed a wealth of information. The scan came back with multiple BRCA mutations and many, many other interesting results. At this time, exome scans are still not quite ready for full roll-out, though even now the companies are gearing up for the massive wave of demand that is quickly approaching. When the price moves down some more, the genomics analysis software is improved, and the exome sequencing technology is fine tuned, then exome scans will obviously be done routinely. 

 

With 23andme, all your genotypes that match the reference genome are reported. These reference results are mostly not significant.

(In the exome scan, many times the reference result was the variant! The reference should be redefined as the major allele.)

 

With the exome, only your genotypes that do not match the reference genome are reported. So in the exome scan we received, of the 62 million loci sequenced, only 60,000 were reported as different from the reference. One problem was that of these 60,000;  20,000 were considered to be low quality reads (probably errors). [The exome scan  was highly enriched in the errors from 62 million base pairs of sequence.] However, quality scores for each base pair was included with the scan. Some of the results within the supposed errors were alarming, including pathogenic mutations in the APP gene. 

 

Ask the company doing the scan, if it would be possible to enrich the sequencing in disease genes that you are especially interested in.

Also, ask if the mitochondrial exome DNA could be sequenced.  

 

Make sure that you pay extra for more coverage.

We originally ordered a 30x coverage exome scan, though when we realized how inexpensive extra coverage was we moved it up to 65x coverage. A clinical grade exome scan is considered to be 70x coverage. It is worth the extra money. After the fixed costs of getting the scan started have been paid, the marginal cost for another 10x is very reasonable (~US$50).

 

Be aware that you will be somewhat ripped off. One gigabit of sequence (based on the full genome price) should only cost $10. 

Our exome scan would have only cost $80 at that price point. The companies doing the exome scans are making quite a bit of money.

If the regulatory and legal environment were more clearly defined, then the price would likely move down.   

 

The company that did the exome scan cut a few corners with the scan. The technology used in the exome scan, sequenced base pairs in 100 long reads. When the exon was 200 to 300 base pairs long, it was necessary to have a big pile up at centre of the exon, However, often when the exon was longer than 300 base pairs, the scan scrimped on both ends. The centre of the exon could have over 200 reads while the ends often had long tails of less than 5 reads or none at all. It might be good to determine whether it could be specified  

what the minimum read depth of the tails would be. The 200 reads at the centre of the exons really did not, at the margin, contribute substantial data.

 

 

Make a Contribution

 

From the exome scan, over 500 of the SNV variants, 200 of the insertions, and 300 of the deletions (which were all read at high quality) were not found in dbSNP. These are still early days in genomics, though it should be realized that the ordinary citizen can make a relevant

contribution in moving genomics forward by having their exome scanned. The value of genome scanning is tremendously enhanced when the overall genomic dataset is expanded. There were thousands of variants in the exome scan that reported back as very rare, though the medical implications are not known. Establishing which variants in an exome actually contribute to pathology will allow exome scans to provide invaluable medical information.

 

By having an exome scan done, you can help grow the dataset and make a contribution. 

 

    


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#26 CaptainFuture

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Posted 16 November 2014 - 08:32 AM

Thank you, Mag1. What I find particularly interesting about the economic side of gene sequencing is that the Beijing Genomic Institute offers WES for around 600 USD with 100x coverage BUT only for researchers or doctors. This is around half the price of gene by gene but as you said, as long as there is not more competition in the direct to consumer market, prices are a joke. I want to get my exome sequenced but these prices are a rip off. 

 

Can you tell us, how easy it is to interpret the data? Are there some step-by-step instructions on how to get this done, what databases to use etc.?



#27 mag1

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Posted 19 November 2014 - 06:42 AM

I wish you hadn't mentioned BGI. I knew they would offer the better deal, though I wanted to keep the business in the US. (I have more confidence in the American interpretation of privacy and their legal system.) I really had to jump through hoops to make it happen. The company had to have a full meeting to decide whether they would even accept my request. Most of the sequencing companies probably have a large tie in to government projects, so it is a difficult choice for them to take the risk. It was perfectly legal, yet there was a tangible sense that this was a back alley deal.

 

This clearly illustrates how much price can be inflated when free markets are obstructed.

 

The genomics story shows how China is rising in the world. Western governments are doing everything in their power to prevent the emergence of this massive 21st industry and allow China to have access to the world's genomics. The arguments that have been advanced to deny the right of citizens to their own genetic information are very empty. Is no one concerned about the national security implications of foreign access to our genetics?

 

Most of the advertised prices for exomes and genomes seem ridiculous. Many of these prices do not appear to have been updated in years. It has occurred to me that in such a non competitive environment, someone could set up a company offering exome / genome sequencing and then just send the samples to BGI. I am not sure whether that would be legal. 

 

I wanted to make a rousing call for citizens to step up and move genomics forward, though the argument fell somewhat flat when I admitted that those who wanted to do the right thing were going to get ripped off. 

 

In the networked economy that we now live in, maximizing self-interest results from a collaboration with others. In a previous era, there was a certain rationality for a narrow sense of self-interest (Mine! Mine! Mine!). Such a logic does not apply in our networked world. What use would the internet be to anyone if someone had it all to their self? Same with genomics.

 

The exome came back with an overwhelming number of mutations. Until there is large scale genome sequencing at the population level (which is starting up now) exomes / genomes will be difficult to interpret. Everyone could benefit by co-operating. Governments could help by stopping their obstruction of their own citizen's quest to understand their health.   

 

After seeing the results, we have given up our membership in the eugenics society. I don't think they would allow us in their club if they knew how many genetic mistakes are contained in our genome. The exome scan alone found 40,000 mutations. We have a list of very rare illnesses that we want to investigate further. The 20th century would have turned out very differently if there had been a better understanding of genetics.

 

Even with the imperfections of the scan valuable information was found. For example, the exome scan revealed a mutation in a colon cancer gene (the person whose exome scan was done had several very large colorectal tumours over the years). It seems hard to imagine that medicine was ever so primitive that the only way to diagnose such a genetic risk present at birth was to wait until a large tumour developed. It is very hard to understand the ethical perspective of people who think that they have the right to prevent others from managing their genetic risks (including possibly life-threatening illnesses, such as cancer)

 

 

The interpretation is difficult (almost impossible). There are some helpful resources.

 

https://www.gene-tal.../users/966/edit

gene-talk lets you filter by high quality disease risk SNPs, frequency etc.

 

http://www.mutationt...r/MT_ChrPos.cgi

Most of the mutations had no research literature to consult, so mutationtaster was a good substitute.

The program could make predictions about mutations.

 

 

Golden Helix Genome Browse   

GenomeBrowse is a great program. Instead of reading through the entire VCF file, the software lets you view entire genes at once. 

This is a very helpful feature as one of the best interpretation approaches we found was to simply take a disease of interest and then

view the full gene ( the exons) to search for mutations. This makes the search much more manageable. Many illnesses might only have

20 validated genes to consider.

 

However, an exome scale interpretation, without such constraints, might still beyond the reach of present technology.


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#28 3AlarmLampscooter

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Posted 21 November 2014 - 08:26 PM

I'm interested in whole exome sequencing and nearly certain I'll come up with partial trisomy 7, among a few other interesting abnormalities.

 

Anyone have experience getting genetic testing done under a fictitious identity?

 

I have absolutely zero confidence in the US legal system offering any protection, despite GINA. I'd much rather never have my data tied to my identity.



#29 CaptainFuture

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Posted 22 November 2014 - 05:11 PM

Thank you for the very helpful and comprehensive answer, Mag1. That would be a great opportunity for arbitrage but a good lawyer is surely needed. 
 
"This clearly illustrates how much price can be inflated when free markets are obstructed."
I agree 100%. I was hoping for 23andMe to increase the competition but things don't run as good for them. They already had the WES pilot project for 999 USD in 2011 but never picked up on it. 
 
"Many of these prices do not appear to have been updated in years."
So true. Coverage mostly improved but prices stayed the same. The West is focused on ethics and how to improve their centrally planned healthcare systems but it's a shame, that we haven't moved further. What I find most ridiculous is the fact, that we already have approved gene therapy in Europe. Glybera is the most expensive drug on the market but it works very well. I'm still a layman but why is it not possible to at least cure most monogenic diseases now? We have a proof of principle. Why don't we use it more often? CRISPR should pave the way for even more effective gene therapy with little side effects. If regulation requires Phase I to III trials for every SNP which is targeted, we will not move a lot and prices will not come done for these kinds of therapies.
 
I truly hope, that we will be able to sequence our own genomes at home in the near future. And I fully agree with you, the more access people have to their own genes, the more and the faster we will advance. Smartphones are a perfect example. The application market exploded and lots of great ideas could be realized. However, if we prevented people from buying smartphones, a lot of progress would have been destroyed. I'm a 100% sure, that if we had a more advanced market for genetics, we would see a lot more analytic software. If normal app developers would have been required to go through the same regulation process as in medicine, I bet 90% of good apps would have never seen daylight.
 
We'll see. Gene-talk is a great tip. As soon as I have triple digit prices and a trustworthy company I will go for WES.
 
 


Click HERE to rent this GENETICS advertising spot to support LongeCity (this will replace the google ad above).

#30 mag1

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Posted 16 December 2014 - 12:45 AM

Here's another exome software program. This was a great help to me. After you receive an exome or full genome scan, you will be completely overwhelmed. You would likely have tens of thousands of variants for an exome scan and millions for a full genome scan. The wannovar program can help you quickly narrow down the variants to the most functionally relevant.

If anyone knows of other programs, please post.


http://wannovar.usc.edu/
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