Interesting perspectives! Myself, I have fun looking at data. A new study comes out about a SNP I hadn't tyhought about, and if I see 23andMe reports on it, I check my status, glance at the paper, try to understand the mechanism (because, as we've all noted, one single study showing a correlation doesn't mean much, but if the mechanism of a variant's effect is plausible, I'm more likely to be convinced), wonder about whether it might affect my regimen, etc.
I find it interesting. I learn a bit more with each SNP I understand.
And, for me, this activity counts as "living life" as much as meditating on the beach.
But we're all different....
Un abrazo,
G
$250 exome scan??
Re: $250 exome scan??
Not surprisingly I am with G on this one.
For instance,
http://www.sciencedaily.com/releases/20 ... 113146.htm
http://www.sciencedaily.com/releases/20 ... 100047.htm
There it is, a genetic relationship between APOB and longevity.
Admit it, you want to know.
I sure did, and I raced right for the exome scan.
Hm hm hm.
It has to be worth the money to be able look these things up.
I think instead of being a distraction to a life well lived this is a necessary ingredient.
Without an exome scan one would never know whether one should be burning in indignation that
CRISPR has been blocked by regulatory delays or have quiet confidence.
The real game changer in the genetics revolution will be when people actually peer into their genomes
and realize their lives, the lives of their parents, children and other loved ones could be so different if only
a little CRISRing could be done.
For instance,
http://www.sciencedaily.com/releases/20 ... 113146.htm
http://www.sciencedaily.com/releases/20 ... 100047.htm
There it is, a genetic relationship between APOB and longevity.
Admit it, you want to know.
I sure did, and I raced right for the exome scan.
Hm hm hm.
It has to be worth the money to be able look these things up.
I think instead of being a distraction to a life well lived this is a necessary ingredient.
Without an exome scan one would never know whether one should be burning in indignation that
CRISPR has been blocked by regulatory delays or have quiet confidence.
The real game changer in the genetics revolution will be when people actually peer into their genomes
and realize their lives, the lives of their parents, children and other loved ones could be so different if only
a little CRISRing could be done.
Re: $250 exome scan??
This study is pretty much exactly what I have been trying to express in terms of linking genealogy and genetics.
http://www.ncbi.nlm.nih.gov/pubmed/26683624
A set of such studies in familial AD could be extraordinary value. Notably in the above cited study they only needed 5 exomes scans
to identify a tiny risk segment that is likely shared by thousands of other people. Governments are always on the lookout for spending
money wisely. These type of studies could be extremely good value. As the above study noted that these families were then offered
genetic counseling if they carried the risk variant. Such an approach could save the medical system a simply overwhelming amount of money.
Of course, these paybacks would be eternal. These families could then go from needing help to being able to provide help.
http://www.ncbi.nlm.nih.gov/pubmed/26683624
A set of such studies in familial AD could be extraordinary value. Notably in the above cited study they only needed 5 exomes scans
to identify a tiny risk segment that is likely shared by thousands of other people. Governments are always on the lookout for spending
money wisely. These type of studies could be extremely good value. As the above study noted that these families were then offered
genetic counseling if they carried the risk variant. Such an approach could save the medical system a simply overwhelming amount of money.
Of course, these paybacks would be eternal. These families could then go from needing help to being able to provide help.
-
Gilgamesh
- Contributor
- Posts: 1711
- Joined: Sat Oct 26, 2013 11:31 am
- Location: Northeast US mostly
- Contact:
Re: $250 exome scan??
We're all different, as noted, but I'm with you here 100%.J11 wrote:It has to be worth the money to be able look these things up.
I think instead of being a distraction to a life well lived this is a necessary ingredient
The study linking genealogy and genetics is fascinating.
It occurs to me there's another benefit to getting family members to get sequenced, even if it's a lowish-quality sequencing procedure: rare variants that appear will have a much, much higher level of reliability if other members of the family also have them. The point of taking BGI up on their offer is to be able to look up variants that appear in studies. But if the confidence with which I believe in my results for a particular variant is low, the whole thing becomes a pointless exercise. But if BGI tells me I have a 0.001% or so rare variant and BGI says my dad or mom also has it, then I can trust it, and if a believable study says it's correlated with early-onset dementia among those who, I don't know, eat tomatoes let's say, I will stop eating tomatoes!!!
I was in Oslo again recently, and took a friend out to dinner. $120. Says something about Oslo, of course, but also: skip two more of those outings and the BGI is paid for! Seems worth it.
G
Re: $250 exome scan??
Sequencing family members is only possible if they want it. My siblings do not. My parents are gone, and I have only one second cousin who has done 23andme, so the pickings would be awfully slim on my family front. Maybe other people's families are more open to the idea. I certainly give J11 a lot of credit for working with his family to get more data.
Re: $250 exome scan??
I see this as sort of question of noblesse oblige.
Well, I don't have any money, or honorofics, nor shireships in the old country, not much of anything,
though having one's exome and the vast insights it can offer does put one in a somewhat different
strata of existence. I am sure others might be wondering whether I might feel that I am somewhat better than
others because of possessing this knowledge.
Yes, I do.
It might only cost $250, though some people might never see any point in this.
Being able to peer inside of the genetic blueprint used to assemble a human is simply a sublime experience.
A whole bunch of players have went out of there way to try to prevent people from accessing this knowledge.
Genetic knowledge clearly is power.
I suppose one can only pity those who have some sort of a vague impression that the future will somehow be a
reflection of the past: it wouldn't be.
The insights we are gaining from our genomes are already significantly changing our lives today.
It is hard to imagine that CRISPR could be held back for long once it is more fully recognized in the broader mainstream society what not CRISPRing will cost every citizen. Everyone develops Alzheimer pathology by age 90, everyone develops Alzheimer
cognitive impairment by age 95. CRISPR technology would make it so easy to turn everyone to no one. It is very difficult to imagine that this would not happen once exome and genome sequencing becomes common.
The point is that with this knowledge we can unlock the genome.
There is a sense of nobility to all of this.
Your knowledge can unlock what is in other people's genomes.
It isn't only the carriers of risk variants that have valuable information it is everyone one who do not have the variants as well.
I think in recognition of my contribution to humanity in having the exome done my
forum name should be upgraded to J11 DNA, where the DNA suffix indicates
the genetic contribution made. It might seem to devalue such an honorific if everyone
were to also have such a suffix, however, this really should be the future.
In a networked world, value is generated when everyone participates. The human genome
will quickly be deciphered once all those holding out for tomorrow get on side today.
The life of my family has been interrupted on several occasions when some completely
unexplainable illness occurred and we then did the best that we could to cope with it.
Life is not going to be like that in the future. Medicine is going to be quite boring:
problems will be forseeable decades in advance and preventative measures taken.
There will be infrequent surprises in the approaching world.
The one in a million variants that we have found in our loved one's exome will be recognized and
understood. We have already had arguments with doctors about how we have interpreted our
family history. One of the more notable of these discussions concerned our loved one with dementia.
This loved one not only had dementia, but also had a history of obsessive behavior. We tried to
explain this to the doctors though they simply did not quite understand what we meant. It will
be such a relief to us when we reach the day that we can point to an exome file and say this
variant here is exactly what we are referring to. Behavioral analysis will then have moved from
the realm of literary description to scientific taxonomy.
Everyone kept asking me what I meant by the genetic genealogy idea. I was not totally sure myself
what I meant about all I could say was that we were heading out on an adventure and it might help
if those coming aboard could swim. Well the article I posted above outlines what I was thinking about.
It is startling that the technique I had in mind could be explored to such an extent as detailed in the article.
They only needed 5 exome scans and this was enough to find a cancer causing variant in a pedigree of 80,000 people.
This is such an overwhelmingly powerful approach that it should be rolled out on a national scale.
The cost savings involved would simply be massive.
I am very unsure why government has not stepped up and announced a large scale National Family Tree
project based on this concept. It is fairly obvious that there are quite a few people who would be forever out
of the loop if a government or a corporation did not do this for them.
The implications for dementia are also substantial.
What if we could also find extended AD pedigrees of possibly tens of thousands of people?
It is quite possible that this could significantly change the entire clinical trial process.
Future clinical trials might enroll specific pedigrees that respond especially well to certain treatments.
Yes, again G, having family members exomed will up the coverage for other family members as well.
We were thinking of having an offspring of our loved one exomed. This should up the coverage
for our loved one's exome. We could then also use our loved one's exome results to check against the offspring.
Each near family member adds considerable coverage for all other members.
Not only that but it will also help work through the phasing. On the 23andme gene chip if you have a parent offspring combo
then quasi-phasing often bumps against what to do with a compound heterozygous call. It is not obvious which phase should
receive the split. This occurs because most of the SNPs used are common. On a 50-50 variant there is no way of deciding.
However, with an exome scan you are not talking about 50% MAFs. Many of the variants in our loved ones exome file were
1 in a thousand MAFs or less. Calling these compound heterozygotes would be easy.
There would seem to be a business model lurking there somewhere. It could sort of like be a GEDmatch
with exomes. You could just go to the site with a gene chip readout and scoop up all the shared segments from
other relatives that had their exomes sequenced. This would cost nothing and since there would likely be multiple
sequences on each segment the coverage could be in the hundreds, not a bad idea. And of course, there would not
be any cost required to do this. If I were BGI I think I might just take people's money give them high quality
sequences and not bother doing any sequencing.
G, it is worth the money and think you could then be G DNA.
Welcome to the nobility!
Well, I don't have any money, or honorofics, nor shireships in the old country, not much of anything,
though having one's exome and the vast insights it can offer does put one in a somewhat different
strata of existence. I am sure others might be wondering whether I might feel that I am somewhat better than
others because of possessing this knowledge.
Yes, I do.
It might only cost $250, though some people might never see any point in this.
Being able to peer inside of the genetic blueprint used to assemble a human is simply a sublime experience.
A whole bunch of players have went out of there way to try to prevent people from accessing this knowledge.
Genetic knowledge clearly is power.
I suppose one can only pity those who have some sort of a vague impression that the future will somehow be a
reflection of the past: it wouldn't be.
The insights we are gaining from our genomes are already significantly changing our lives today.
It is hard to imagine that CRISPR could be held back for long once it is more fully recognized in the broader mainstream society what not CRISPRing will cost every citizen. Everyone develops Alzheimer pathology by age 90, everyone develops Alzheimer
cognitive impairment by age 95. CRISPR technology would make it so easy to turn everyone to no one. It is very difficult to imagine that this would not happen once exome and genome sequencing becomes common.
The point is that with this knowledge we can unlock the genome.
There is a sense of nobility to all of this.
Your knowledge can unlock what is in other people's genomes.
It isn't only the carriers of risk variants that have valuable information it is everyone one who do not have the variants as well.
I think in recognition of my contribution to humanity in having the exome done my
forum name should be upgraded to J11 DNA, where the DNA suffix indicates
the genetic contribution made. It might seem to devalue such an honorific if everyone
were to also have such a suffix, however, this really should be the future.
In a networked world, value is generated when everyone participates. The human genome
will quickly be deciphered once all those holding out for tomorrow get on side today.
The life of my family has been interrupted on several occasions when some completely
unexplainable illness occurred and we then did the best that we could to cope with it.
Life is not going to be like that in the future. Medicine is going to be quite boring:
problems will be forseeable decades in advance and preventative measures taken.
There will be infrequent surprises in the approaching world.
The one in a million variants that we have found in our loved one's exome will be recognized and
understood. We have already had arguments with doctors about how we have interpreted our
family history. One of the more notable of these discussions concerned our loved one with dementia.
This loved one not only had dementia, but also had a history of obsessive behavior. We tried to
explain this to the doctors though they simply did not quite understand what we meant. It will
be such a relief to us when we reach the day that we can point to an exome file and say this
variant here is exactly what we are referring to. Behavioral analysis will then have moved from
the realm of literary description to scientific taxonomy.
Everyone kept asking me what I meant by the genetic genealogy idea. I was not totally sure myself
what I meant about all I could say was that we were heading out on an adventure and it might help
if those coming aboard could swim. Well the article I posted above outlines what I was thinking about.
It is startling that the technique I had in mind could be explored to such an extent as detailed in the article.
They only needed 5 exome scans and this was enough to find a cancer causing variant in a pedigree of 80,000 people.
This is such an overwhelmingly powerful approach that it should be rolled out on a national scale.
The cost savings involved would simply be massive.
I am very unsure why government has not stepped up and announced a large scale National Family Tree
project based on this concept. It is fairly obvious that there are quite a few people who would be forever out
of the loop if a government or a corporation did not do this for them.
The implications for dementia are also substantial.
What if we could also find extended AD pedigrees of possibly tens of thousands of people?
It is quite possible that this could significantly change the entire clinical trial process.
Future clinical trials might enroll specific pedigrees that respond especially well to certain treatments.
Yes, again G, having family members exomed will up the coverage for other family members as well.
We were thinking of having an offspring of our loved one exomed. This should up the coverage
for our loved one's exome. We could then also use our loved one's exome results to check against the offspring.
Each near family member adds considerable coverage for all other members.
Not only that but it will also help work through the phasing. On the 23andme gene chip if you have a parent offspring combo
then quasi-phasing often bumps against what to do with a compound heterozygous call. It is not obvious which phase should
receive the split. This occurs because most of the SNPs used are common. On a 50-50 variant there is no way of deciding.
However, with an exome scan you are not talking about 50% MAFs. Many of the variants in our loved ones exome file were
1 in a thousand MAFs or less. Calling these compound heterozygotes would be easy.
There would seem to be a business model lurking there somewhere. It could sort of like be a GEDmatch
with exomes. You could just go to the site with a gene chip readout and scoop up all the shared segments from
other relatives that had their exomes sequenced. This would cost nothing and since there would likely be multiple
sequences on each segment the coverage could be in the hundreds, not a bad idea. And of course, there would not
be any cost required to do this. If I were BGI I think I might just take people's money give them high quality
sequences and not bother doing any sequencing.
G, it is worth the money and think you could then be G DNA.
Welcome to the nobility!
Re: $250 exome scan??
G, getting so excited about this genetic-genealogy combo.
With the cancer study above, there was an extended pedigree of 80,000 people in 5 states.
Concentrations of families such as that would make these studies essentially politically unstoppable once momentum began.
Until this point there were all these thousands of people who had been struggling with similar cancers and it had never been
obvious what the genetic driver was. The gen-gen combo they used was an extremely powerful approach to unlock the mystery.
I suppose it would be somewhat similar with our family's dementia. There are probably a fair few others in our extended family who are also now quietly struggling alone with a loved one's dementia. Once we can break through to some of these other family members then affected family members will start emerging all over our family tree. Amplifying the gen-gen combo with
widescale exome sequencing could identify even more distantly related relatives or even non-related people who might share a rare variant.
It is very surprising to me that a widespread roll out of this general approach has not yet occurred.
It is usually better to be ahead of a tidal wave and not in the middle of it.
It would be pretty much like igniting rocket fuel.
Once you mobilized the backcountry, the entire power structure of the state would inevitably fall into line.
Without a shared sense of genetic consciousness this might have never occurred.
Just think that the cancer clinics in those states were essentially family reunions.
I am close to the point of finding an ancestral homeland for our family's dementia variant.
It will be so much easier to move forward when we also start finding the different dementia branches.
With the cancer study above, there was an extended pedigree of 80,000 people in 5 states.
Concentrations of families such as that would make these studies essentially politically unstoppable once momentum began.
Until this point there were all these thousands of people who had been struggling with similar cancers and it had never been
obvious what the genetic driver was. The gen-gen combo they used was an extremely powerful approach to unlock the mystery.
I suppose it would be somewhat similar with our family's dementia. There are probably a fair few others in our extended family who are also now quietly struggling alone with a loved one's dementia. Once we can break through to some of these other family members then affected family members will start emerging all over our family tree. Amplifying the gen-gen combo with
widescale exome sequencing could identify even more distantly related relatives or even non-related people who might share a rare variant.
It is very surprising to me that a widespread roll out of this general approach has not yet occurred.
It is usually better to be ahead of a tidal wave and not in the middle of it.
It would be pretty much like igniting rocket fuel.
Once you mobilized the backcountry, the entire power structure of the state would inevitably fall into line.
Without a shared sense of genetic consciousness this might have never occurred.
Just think that the cancer clinics in those states were essentially family reunions.
I am close to the point of finding an ancestral homeland for our family's dementia variant.
It will be so much easier to move forward when we also start finding the different dementia branches.
-
GenePoole0304
- Contributor
- Posts: 561
- Joined: Mon Nov 10, 2014 7:20 pm
Re: $250 exome scan??
I saw the nemotode and APO-B studies from another source
This maybe on a similar theme?
http://www.kurzweilai.net/new-genes-ass ... -282068986
This maybe on a similar theme?
http://www.kurzweilai.net/new-genes-ass ... -282068986
Re: $250 exome scan??
Great post about the longevity genes.
Yet, the APOB gene does not appear to be mentioned.
Amazing!
We live in this stunning world of science where even stories about longevity published
nearly from the same month are referring to different results.
It is also quite notable that the word about CRISPR appears to spreading out into the community.
As this knowledge percolates through the community a whole bunch of people are going to say I want
to live longer, without dementia, without cancer, without disease...
It will be very interesting to see what explanations might be put forward suggesting that people should not have
access to such a technology. "Because" is not an intellectually nor ethically valid answer.
Yet, the APOB gene does not appear to be mentioned.
Amazing!
We live in this stunning world of science where even stories about longevity published
nearly from the same month are referring to different results.
It is also quite notable that the word about CRISPR appears to spreading out into the community.
As this knowledge percolates through the community a whole bunch of people are going to say I want
to live longer, without dementia, without cancer, without disease...
It will be very interesting to see what explanations might be put forward suggesting that people should not have
access to such a technology. "Because" is not an intellectually nor ethically valid answer.
Re: $250 exome scan??
G, I am getting more and more excited about the possibility of a people powered genetic revolution in neurodegeneration.
I know you've seen the latest story on Alzforum http://www.alzforum.org/news/conference ... pty-canvas and were thinking what I was thinking: I want one of those NeuroX2 array.
Just load up a 1000 variants from 1000 potential Alzheimer genes and sell them on an online store for $100.
This would allow the entire consumer marketplace to finance the solving of dementia genetics.
This is super awesome!
It is even better than a $250 exome.
The problem with sequencing even now is that you can never be sure that you will get a good read on the SNP you are looking for.
Even after spending $1000 for a full genome or $250 for an exome you would still not know.
With a simple and inexpensive dementia chip you could have a comprehensive answer.
We should all sign up for it!
I know you've seen the latest story on Alzforum http://www.alzforum.org/news/conference ... pty-canvas and were thinking what I was thinking: I want one of those NeuroX2 array.
Just load up a 1000 variants from 1000 potential Alzheimer genes and sell them on an online store for $100.
This would allow the entire consumer marketplace to finance the solving of dementia genetics.
This is super awesome!
It is even better than a $250 exome.
The problem with sequencing even now is that you can never be sure that you will get a good read on the SNP you are looking for.
Even after spending $1000 for a full genome or $250 for an exome you would still not know.
With a simple and inexpensive dementia chip you could have a comprehensive answer.
We should all sign up for it!
