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Giant study poses DNA data-sharing dilemma:

Next month, the group is expected to release a project plan. Observers are eager to learn its answer to a key question: how much information about disease risk, especially genetic data, will the project share with participants?

That issue is the subject of much debate. Dishman and others say that participants should at least have the option to see all their personal data so that they can investigate their own health, just as he did. But some specialists in the field say that showing participants their data is irresponsible, because the information is challenging for people to interpret and its significance is often uncertain.

Most genetic variants linked to disease increase risk only slightly, yet people who discover that their genome holds such a variant might worry excessively or seek unnecessary medical tests. Or they might do nothing: the limited research on how people react suggests that, far from causing panic, information about common variants of small-to-moderate effect does not seem to motivate people to make recommended long-term behavioural changes to lessen risk. “Unless you give people the tools and the skills to deal with the raw data, I don’t see how you could give them the raw data,” says Brian Van Ness, a geneticist at the University of Minnesota in Minneapolis.

Years ago I had a short conversation with Mike Snyder where we discussed the fact that for human genomics to become useful there had to develop a culture of openness and ubiquity of data. That is, you need huge sample sizes and lots of information on those samples. Several years ago I elaborated some of my views with an essay in Genome Biology, co-written with my friend David Mittleman, Rumors of the death of consumer genomics are greatly exaggerated. The point is that the gains to genomics, and what is now being called “precision medicine”, is really going to occur when there is widespread adoption of sequencing and comfort among the populace with analyzing the intersection of the sequence data with phenotype data. That is, there are returns to scale. But all this sounds very “Brave New World” to people, and they are not comfortable with it. Yet. One way to make people more at ease is to give them some “ownership” of the process. They may never analyze their raw data, but they’ll have it, forever. Or, they may analyze it with third-party tools such as Promethease. Ultimately personal genomics needs to be personalized, and if you lock the data behind gates, that totally undermines the message.

Second, I think on normative grounds one can say that it is not ethical and right for researchers to withhold your own sequence when they are attempting to do research with your data. After all, they are making gains career wise with your own information, your raw data. It strikes me as unjust that they’d withhold that data because you might not do the right thing with it. That it’s up to them to decide when you can see information on your own body. There is perhaps a place for paternalism on some issues, but in the generality this is not one hill that I think many geneticists will die on. Those who stand athwart history are going to look foolish in hindsight.

 
• Category: Science • Tags: Personal Genomics 
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  1. third-party tools

    Speaking of “third party”, the anonymous donor baby community will be heavily invested in this issue.

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  2. I think one has to draw distinctions between the three basic uses for human personal genetic data today.

    There is a group of readers on this blog focused on #3.

    #1. Personalized Medicine and Health Research. The drug companies are big funders in this area. 23andme, AncestryDNA, and others offer low prices to suck up data and then resell so called group data to drug companies.
    #2. Forensic Personal and Familial Identification as done at the FBI, State Labs, etc. Even the founders at FGC are dipping their toes in the water here with the FBI.
    #3. Personal and Group Genetic Data used in Genetic Genealogy. Yes, FGC is in this area and use to to use labs in China.

    One of the biggest offenders in Sphere #1 & #3 is Burroughs Wellcome when they did their POBI – People of the British Isles study.

    They conned the participants in thinking it was all about #3 (and would not release their individual data or say which cluster they were in) while sucking all that data up for #1.

    So if Razib and others want to put some meat on the bone of their “Unjust” assertions … use some specifics and call out the unjust offenders by name and the PhDs who write the research papers based on such. And the funders such as BWF. http://www.nature.com/nature/journal/v519/n7543/full/nature14230.html

    Read More
    • Replies: @wiijy
    I am in the People of the British Isles study. It was clear on the literature I was given when I agreed to participate that I would not get any feedback or any individual data back from the study. I was certainly not conned.
    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  3. Rick says:

    It is really a sad situation. Many people freak out or don’t know how to react when they see an unusual growth, or parasite, or lesion on their body using a mirror.

    Yet, not many doctors are suggesting that mirrors should be obtained only by prescription. There is actually very little difference to obtaining your genome sequence. If you see something strange, ask an expert.

    Read More
    • Replies: @Senator Brundlefly
    I don't really get the argument of why such info shouldn't be released. If you have a damaged BRCA1 its not like you're gonna instantly perform a mastectomy yourself. You would have the consult of a doctor. Like you suggest, it would be the molecular equivalent of finding a disconcerting lump.
    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  4. @Rick
    It is really a sad situation. Many people freak out or don't know how to react when they see an unusual growth, or parasite, or lesion on their body using a mirror.

    Yet, not many doctors are suggesting that mirrors should be obtained only by prescription. There is actually very little difference to obtaining your genome sequence. If you see something strange, ask an expert.

    I don’t really get the argument of why such info shouldn’t be released. If you have a damaged BRCA1 its not like you’re gonna instantly perform a mastectomy yourself. You would have the consult of a doctor. Like you suggest, it would be the molecular equivalent of finding a disconcerting lump.

    Read More
    • Replies: @Dmitry Pruss
    People can and do engage in "physician-shopping", often finding a doctor who'll perform surgeries based on uninterpretable genetic data and perhaps some family history thrown in for good measure. Or if they can't find a surgeon who agrees with their fears, then the stress and anxiety lingers on, and it's pretty bad too.

    In BRCA genes specifically, there is a continuous flow of women who download their raw 23andMe data and analyze it with Promethease (as Razib suggested). The SNPs inevitably have a trail of never-reproduced underpowered studies linking them to this or that cancer trait (as compiled by SNPedia which forms basis for Promethease reports). The fact that such studies are all flukes is never underscored, and numerous women end up worried sick about some common BRCA alleles (with 10 to 50% MAFs). I tried nudging SNPedia people to change the way they report common alleles in high-penetrance risk genes such as BRCA1, but nothing budged...

    So the alarmist over-interpretation of minor risk alleles / common alleles with poor quality data isn't a conjecture. It is a recurrent fact.

    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  5. wiijy says:
    @George Jones
    I think one has to draw distinctions between the three basic uses for human personal genetic data today.

    There is a group of readers on this blog focused on #3.

    #1. Personalized Medicine and Health Research. The drug companies are big funders in this area. 23andme, AncestryDNA, and others offer low prices to suck up data and then resell so called group data to drug companies.
    #2. Forensic Personal and Familial Identification as done at the FBI, State Labs, etc. Even the founders at FGC are dipping their toes in the water here with the FBI.
    #3. Personal and Group Genetic Data used in Genetic Genealogy. Yes, FGC is in this area and use to to use labs in China.

    One of the biggest offenders in Sphere #1 & #3 is Burroughs Wellcome when they did their POBI - People of the British Isles study.

    They conned the participants in thinking it was all about #3 (and would not release their individual data or say which cluster they were in) while sucking all that data up for #1.

    So if Razib and others want to put some meat on the bone of their "Unjust" assertions ... use some specifics and call out the unjust offenders by name and the PhDs who write the research papers based on such. And the funders such as BWF. http://www.nature.com/nature/journal/v519/n7543/full/nature14230.html

    I am in the People of the British Isles study. It was clear on the literature I was given when I agreed to participate that I would not get any feedback or any individual data back from the study. I was certainly not conned.

    Read More
    • Replies: @George Jones
    I have heard different narratives than yours on people participating in the POBI study ... a dual purpose health genetics and genetic genealogy study.

    Some have had the clear understanding they could get their data for Genetic Genealogy purposes.

    http://www.culture24.org.uk/asset_arena/6/92/12/521296/v0_master.jpg
    Many POBI participants still want to know which Autosomal DNA cluster they fall into. Do you?
    , @George Jones
    In a March 2015 comment wiijy said:

    ************

    wiijy
    March 27, 2015 at 12:39 pm GMT • 100 Words

    I am one of the PoBI participants (and a statistical geneticist), and I signed up to anonymised data release. There was never any possibility for anyone to be able to get their own data back, but I am hoping to have some fun trying to work it out.

    The Welcome Trust generally give researchers access to data, but it can take a long time and be very bureaucratic.

    I am one of the Cumbrian cluster.

    ************

    Your comments as a self volunteered 'Professional' Statistical Geneticist in the PoBI study is not at all representative of comments I have heard from "Lay" PoBI participants ... who by far and away are the majority of participants in PoBI.

    Yes, I know that the Welcome Trust grants access to this anonymized individual and group data by researchers at recognized academic institutions (the high gods) ... but not the every day man and woman who wants to learn more about their genetic health or genetic genealogy.

    How did you determine you are in one of the Wales "PoBI Cumbrian Clusters"? Did someone leak that information to you?
    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  6. @Senator Brundlefly
    I don't really get the argument of why such info shouldn't be released. If you have a damaged BRCA1 its not like you're gonna instantly perform a mastectomy yourself. You would have the consult of a doctor. Like you suggest, it would be the molecular equivalent of finding a disconcerting lump.

    People can and do engage in “physician-shopping”, often finding a doctor who’ll perform surgeries based on uninterpretable genetic data and perhaps some family history thrown in for good measure. Or if they can’t find a surgeon who agrees with their fears, then the stress and anxiety lingers on, and it’s pretty bad too.

    In BRCA genes specifically, there is a continuous flow of women who download their raw 23andMe data and analyze it with Promethease (as Razib suggested). The SNPs inevitably have a trail of never-reproduced underpowered studies linking them to this or that cancer trait (as compiled by SNPedia which forms basis for Promethease reports). The fact that such studies are all flukes is never underscored, and numerous women end up worried sick about some common BRCA alleles (with 10 to 50% MAFs). I tried nudging SNPedia people to change the way they report common alleles in high-penetrance risk genes such as BRCA1, but nothing budged…

    So the alarmist over-interpretation of minor risk alleles / common alleles with poor quality data isn’t a conjecture. It is a recurrent fact.

    Read More
    • Replies: @Razib Khan
    how many are really "worried sick"? do they not bother to follow up on the internet about the issue re: power? hypochondria is a general problem (see: CAT scan controversy, mammograms, etc.). but to me that's totally separate from whether people should have data. yes, it enables, but so do many other things we don't ban, because that's not how you solve the problem of over-usage of medical services (which is going to be an issue with genomics as we all know).
    , @Anonymous
    SNPedia has the information people wish to see, and, all information is given a magnitude of importance, so mutations with high penetrance and significance can be distinguished from those that are (only) risk factors. SNPedia is freely available 24/7 to individuals who wish to learn more about DNA variations.

    We do believe in having the information available, and we believe in educating people about DNA variations. It's certainly true that many consumers do not have enough understanding about genomics. But is the solution to deny them access to published literature and to their own DNA data? We don't think so.

    Dmitry Pruss works for Myriad Genetics, the company best known for having fought - and most recently lost - numerous legal battles over the BRCA patents (and the thousands of dollars they charge for BRCA testing through physicians). It's not surprising that he doesn't want women to have access to their own DNA data and the associated scientific literature. It is surprising that he does not reveal his corporate affiliation when posting opinions of this nature.

    We here at SNPedia (including Promethease) would be happy to show Dmitry or anyone else how to sort results based on allele frequency, if that's the criteria they wish to use. There are lots of other criteria as well that can be applied, and we support using them too.

    We will not be "nudged" into removing published data from public view. We believe in having the information be available, so an informed person can decide, with the help of their health-care providers as and when they wish, what's important to them.
    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  7. @Dmitry Pruss
    People can and do engage in "physician-shopping", often finding a doctor who'll perform surgeries based on uninterpretable genetic data and perhaps some family history thrown in for good measure. Or if they can't find a surgeon who agrees with their fears, then the stress and anxiety lingers on, and it's pretty bad too.

    In BRCA genes specifically, there is a continuous flow of women who download their raw 23andMe data and analyze it with Promethease (as Razib suggested). The SNPs inevitably have a trail of never-reproduced underpowered studies linking them to this or that cancer trait (as compiled by SNPedia which forms basis for Promethease reports). The fact that such studies are all flukes is never underscored, and numerous women end up worried sick about some common BRCA alleles (with 10 to 50% MAFs). I tried nudging SNPedia people to change the way they report common alleles in high-penetrance risk genes such as BRCA1, but nothing budged...

    So the alarmist over-interpretation of minor risk alleles / common alleles with poor quality data isn't a conjecture. It is a recurrent fact.

    how many are really “worried sick”? do they not bother to follow up on the internet about the issue re: power? hypochondria is a general problem (see: CAT scan controversy, mammograms, etc.). but to me that’s totally separate from whether people should have data. yes, it enables, but so do many other things we don’t ban, because that’s not how you solve the problem of over-usage of medical services (which is going to be an issue with genomics as we all know).

    Read More
    • Replies: @Dmitry Pruss
    Razib, I totally agree that people should have their genotype data, and generally that the genetic paternalism s*cks.

    But I also maintain that we need to look for technical solutions to help people avoid over-interpretation of their genetic raw data, because the problem is real and widespread, and because the biases of publication frequently result in published spurious associations between genotypes and traits.

    In the past, I tried (and failed) to convey to Greg Lennon one such simple technical idea: that for a disease trait with well-known high-penetrance alleles ( OR >> 2 ), whenever a SNP has MAF similar or greater to the incidence of the disease, just tell the end users straight that it isn't one of the high penetrance alleles.

    I think that it is equally disingenuous for Greg Lennon and SNPedia to shift the burden of allele frequency / trait incidence analysis to the regular 23adMe users who just happened to have been told of Promethease, and to imply that the patent battles of yesteryear is what informs my personal opinion today. Myriad Genetics today is one of dozens clinical providers. Its once sworn arch-enemies in the old patent battle totally agree with respect to both high-frequency SNPs and low-quality publications. Like Ambry, once the lead plaintiff, doesn't report these SNP alleles as clinically actionable, and ClinVar project, once a straightforward wiki-like variant-interpretation compendium, shifted to star-rating and manually curating the quality of its submissions. It's all about being responsible stewards of the gene-phenotype associations, not about who fought whom in courts how many years ago.

    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  8. I would kinda see the argument that some of the disease linkages may not be ready for general consumption, but its not like it would be a determinative factor on its own. Just a small red flag of “hey there is a slight risk, you should keep an eye on it” and “given your family history, we might want to take a look here” Other than the naturopath gibberish, I thought Angelina Jolie handled her situation well:

    “Then two weeks ago I got a call from my doctor with blood-test results. “Your CA-125 is normal,” he said. I breathed a sigh of relief. That test measures the amount of the protein CA-125 in the blood, and is used to monitor ovarian cancer. I have it every year because of my family history.But that wasn’t all. He went on. “There are a number of inflammatory markers that are elevated, and taken together they could be a sign of early cancer.” I took a pause. “CA-125 has a 50 to 75 percent chance of missing ovarian cancer at early stages,” he said. He wanted me to see the surgeon immediately to check my ovaries.”…

    “I did not do this solely because I carry the BRCA1 gene mutation, and I want other women to hear this. A positive BRCA test does not mean a leap to surgery. I have spoken to many doctors, surgeons and naturopaths. There are other options.”

    http://www.nytimes.com/2015/03/24/opinion/angelina-jolie-pitt-diary-of-a-surgery.html?_r=1

    All in all, I don’t find it any more dangerous than those annoying news stories of “new scientific studies find that food item x gives you cancer” wait…”new scientific studies find that food item x decreases your risk of cancer.” Genetic data at least has the benefit of action not being taken until other signs are found.

    Read More
    ReplyAgree/Disagree/Etc. More... This Commenter Display All Comments
  9. @wiijy
    I am in the People of the British Isles study. It was clear on the literature I was given when I agreed to participate that I would not get any feedback or any individual data back from the study. I was certainly not conned.

    I have heard different narratives than yours on people participating in the POBI study … a dual purpose health genetics and genetic genealogy study.

    Some have had the clear understanding they could get their data for Genetic Genealogy purposes.


    Many POBI participants still want to know which Autosomal DNA cluster they fall into. Do you?

    Read More
    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  10. @wiijy
    I am in the People of the British Isles study. It was clear on the literature I was given when I agreed to participate that I would not get any feedback or any individual data back from the study. I was certainly not conned.

    In a March 2015 comment wiijy said:

    ************

    wiijy
    March 27, 2015 at 12:39 pm GMT • 100 Words

    I am one of the PoBI participants (and a statistical geneticist), and I signed up to anonymised data release. There was never any possibility for anyone to be able to get their own data back, but I am hoping to have some fun trying to work it out.

    The Welcome Trust generally give researchers access to data, but it can take a long time and be very bureaucratic.

    I am one of the Cumbrian cluster.

    ************

    Your comments as a self volunteered ‘Professional’ Statistical Geneticist in the PoBI study is not at all representative of comments I have heard from “Lay” PoBI participants … who by far and away are the majority of participants in PoBI.

    Yes, I know that the Welcome Trust grants access to this anonymized individual and group data by researchers at recognized academic institutions (the high gods) … but not the every day man and woman who wants to learn more about their genetic health or genetic genealogy.

    How did you determine you are in one of the Wales “PoBI Cumbrian Clusters”? Did someone leak that information to you?

    Read More
    • Replies: @wiijy
    > How did you determine you are in one of the Wales “PoBI Cumbrian Clusters”? Did someone leak that information to you?

    Because they cluster sampled, and I know where my median grandparental location is.

    I am not part of the analysis team, and I have not tried to get access to either my data or the whole dataset.

    I am just baffled as to why people might be upset. The fact that it is anonymised and you can't get individualised results was explicit in the material given when you give a sample (and get measured). If they didn't like that they they shouldn't have volunteered.

    Any blame for this can be shared between the University Ethics committee who will have insisted on anonymity and the researchers, who couldn't be bothered (or didn't have the time/money) to challenge it. I have no particular knowledge of this study but experience of Ethics committees and grant writing.


    > One of the biggest offenders in Sphere #1 & #3 is Burroughs Wellcome when they did their POBI – People of the British Isles study.

    You need to find out the difference between the Wellcome Trust and Burroughs Wellcome the (now extant) drugs company (part of GlaxoSmithKline).
    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  11. Anonymous says: • Website • Disclaimer
    @Dmitry Pruss
    People can and do engage in "physician-shopping", often finding a doctor who'll perform surgeries based on uninterpretable genetic data and perhaps some family history thrown in for good measure. Or if they can't find a surgeon who agrees with their fears, then the stress and anxiety lingers on, and it's pretty bad too.

    In BRCA genes specifically, there is a continuous flow of women who download their raw 23andMe data and analyze it with Promethease (as Razib suggested). The SNPs inevitably have a trail of never-reproduced underpowered studies linking them to this or that cancer trait (as compiled by SNPedia which forms basis for Promethease reports). The fact that such studies are all flukes is never underscored, and numerous women end up worried sick about some common BRCA alleles (with 10 to 50% MAFs). I tried nudging SNPedia people to change the way they report common alleles in high-penetrance risk genes such as BRCA1, but nothing budged...

    So the alarmist over-interpretation of minor risk alleles / common alleles with poor quality data isn't a conjecture. It is a recurrent fact.

    SNPedia has the information people wish to see, and, all information is given a magnitude of importance, so mutations with high penetrance and significance can be distinguished from those that are (only) risk factors. SNPedia is freely available 24/7 to individuals who wish to learn more about DNA variations.

    We do believe in having the information available, and we believe in educating people about DNA variations. It’s certainly true that many consumers do not have enough understanding about genomics. But is the solution to deny them access to published literature and to their own DNA data? We don’t think so.

    Dmitry Pruss works for Myriad Genetics, the company best known for having fought – and most recently lost – numerous legal battles over the BRCA patents (and the thousands of dollars they charge for BRCA testing through physicians). It’s not surprising that he doesn’t want women to have access to their own DNA data and the associated scientific literature. It is surprising that he does not reveal his corporate affiliation when posting opinions of this nature.

    We here at SNPedia (including Promethease) would be happy to show Dmitry or anyone else how to sort results based on allele frequency, if that’s the criteria they wish to use. There are lots of other criteria as well that can be applied, and we support using them too.

    We will not be “nudged” into removing published data from public view. We believe in having the information be available, so an informed person can decide, with the help of their health-care providers as and when they wish, what’s important to them.

    Read More
    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  12. @Razib Khan
    how many are really "worried sick"? do they not bother to follow up on the internet about the issue re: power? hypochondria is a general problem (see: CAT scan controversy, mammograms, etc.). but to me that's totally separate from whether people should have data. yes, it enables, but so do many other things we don't ban, because that's not how you solve the problem of over-usage of medical services (which is going to be an issue with genomics as we all know).

    Razib, I totally agree that people should have their genotype data, and generally that the genetic paternalism s*cks.

    But I also maintain that we need to look for technical solutions to help people avoid over-interpretation of their genetic raw data, because the problem is real and widespread, and because the biases of publication frequently result in published spurious associations between genotypes and traits.

    In the past, I tried (and failed) to convey to Greg Lennon one such simple technical idea: that for a disease trait with well-known high-penetrance alleles ( OR >> 2 ), whenever a SNP has MAF similar or greater to the incidence of the disease, just tell the end users straight that it isn’t one of the high penetrance alleles.

    I think that it is equally disingenuous for Greg Lennon and SNPedia to shift the burden of allele frequency / trait incidence analysis to the regular 23adMe users who just happened to have been told of Promethease, and to imply that the patent battles of yesteryear is what informs my personal opinion today. Myriad Genetics today is one of dozens clinical providers. Its once sworn arch-enemies in the old patent battle totally agree with respect to both high-frequency SNPs and low-quality publications. Like Ambry, once the lead plaintiff, doesn’t report these SNP alleles as clinically actionable, and ClinVar project, once a straightforward wiki-like variant-interpretation compendium, shifted to star-rating and manually curating the quality of its submissions. It’s all about being responsible stewards of the gene-phenotype associations, not about who fought whom in courts how many years ago.

    Read More
    ReplyAgree/Disagree/Etc. More... This Commenter This Thread Hide Thread Display All Comments
  13. wiijy says:
    @George Jones
    In a March 2015 comment wiijy said:

    ************

    wiijy
    March 27, 2015 at 12:39 pm GMT • 100 Words

    I am one of the PoBI participants (and a statistical geneticist), and I signed up to anonymised data release. There was never any possibility for anyone to be able to get their own data back, but I am hoping to have some fun trying to work it out.

    The Welcome Trust generally give researchers access to data, but it can take a long time and be very bureaucratic.

    I am one of the Cumbrian cluster.

    ************

    Your comments as a self volunteered 'Professional' Statistical Geneticist in the PoBI study is not at all representative of comments I have heard from "Lay" PoBI participants ... who by far and away are the majority of participants in PoBI.

    Yes, I know that the Welcome Trust grants access to this anonymized individual and group data by researchers at recognized academic institutions (the high gods) ... but not the every day man and woman who wants to learn more about their genetic health or genetic genealogy.

    How did you determine you are in one of the Wales "PoBI Cumbrian Clusters"? Did someone leak that information to you?

    > How did you determine you are in one of the Wales “PoBI Cumbrian Clusters”? Did someone leak that information to you?

    Because they cluster sampled, and I know where my median grandparental location is.

    I am not part of the analysis team, and I have not tried to get access to either my data or the whole dataset.

    I am just baffled as to why people might be upset. The fact that it is anonymised and you can’t get individualised results was explicit in the material given when you give a sample (and get measured). If they didn’t like that they they shouldn’t have volunteered.

    Any blame for this can be shared between the University Ethics committee who will have insisted on anonymity and the researchers, who couldn’t be bothered (or didn’t have the time/money) to challenge it. I have no particular knowledge of this study but experience of Ethics committees and grant writing.

    > One of the biggest offenders in Sphere #1 & #3 is Burroughs Wellcome when they did their POBI – People of the British Isles study.

    You need to find out the difference between the Wellcome Trust and Burroughs Wellcome the (now extant) drugs company (part of GlaxoSmithKline).

    Read More
    • Replies: @George Jones
    wiijy said:

    "You need to find out the difference between the Wellcome Trust and Burroughs Wellcome the (now extant) drugs company (part of GlaxoSmithKline)."

    Jones says: The difference to the Genetic Genealogy community and those seeking more info in the Lay Personalized Medicine realm for an Individual is: " BW = Evil" WT= More Evil".

    PoBI researchers and the Wellcome Trust coyly said they are interested in "only genetic biomedical research" and not genetic genealogy nor genetic population research. The PoBI paper in Nature was ONLY about genetic genealogy and genetic population research.

    The Wellcome Trust speaks evilly and unevenly out of the both sides of their mouth while using big data to develop costly new drugs that will cost us all an arm and a leg if we need them for own Personalized Medicine purposes. They want to hang this wrap on one Academic Ethics Committee or another (which has people they and others fund with research grants) See:
    http://www.peopleofthebritishisles.org/nl6.pdf

    You might find informative this March 2015 email exchange:
    ****
    Razib K Mar 25
    To
    George Jones
    thanks!
    ****
    Mar 25, 2015 at 6:50 AM, George Jones wrote:
    > Hi Razib,
    >
    > When you write about PoBI in detail you might want to touch upon the
    > Wellcome Trust policy of not even providing > '17 Group Level' De Identified Data to those in the Genetic Genealogy Community.
    >
    > Here's a series of emails detailing this Wellcome policy.
    >
    > It appears neither RAZIB, FTDNA, ANCESTRYDNA, 23ANDME, DIENEKES, GEDMATCH, OTHER GENETIC GENEALOGY RESEARCHERS will have access to the British PoBI anonymized macro data because of the unreasonable controls at Wellcome Trust.
    > My comments are in ( )
    >
    > George Jones
    ****
    > ----- Forwarded Message -----
    > From: "Duncanson, Audrey"
    > To: George Jones
    > Cc: "Dunn, Michael"
    > Sent: Tuesday, March 24, 2015 10:56 AM
    > Subject: RE: ACCESS TO DE-IDENTIFIED POBI GROUP LEVEL DATA
    >
    > Dear Mr. Jones:
    >
    > Thank you for your enquiry regarding access to POBI data. Michael Dunn has
    > passed this to me as I deal with data access for POBI and other genomics projects here at the Wellcome Trust.
    >
    > The POBI data is available for access through the European Genotype Archive
    > (EGA) and was available at the same time as the Nature publication. The
    > Wellcome Trust takes data sharing very seriously and we have invested in and
    > support data sharing mechanisms to ensure the data from our projects is
    > shared as widely as possible.
    >
    > However, I must emphasise that we fund research such as POBI as biomedical
    > research and not genetic genealogy.

    >
    > Although the POBI project, it could be argued is somewhat removed from
    > biomedical health research, one never knows where discoveries in health will
    > be made and the data from the project has been used, and will continue to be
    > used, by researchers as controls for other genetic studies that may lead to
    > genetic discoveries. The project is of course hugely interesting in and of
    > itself, as proved by the public and media response to the publication. (Sure
    > -- it's interesting to the general public because of the group level 17
    > cluster genetic / geographic information .... not from the biomedical health
    > research angle)
    >
    > Our data sharing mechanisms reflect our funding focus and the data is made
    > available to researchers in bona fide research institutions, that are able
    > to sign up to the Data Access Agreements (DAA) at an Institutional level. (I
    > guess there are PhDs who do Genetic Population research at institutions ...
    > and then there are lay Genetic Genealogy researchers who have done some
    > pretty amazing work with NGS discovery of various Y-DNA Hgs ... and the PoBI
    > researchers did not use a lick of Y-DNA SNP aging research to validate atDNA
    > aging and migration findings)
    >
    > The data from POBI and other studies we support is very sensitive, given
    > what is known about the participants and accompanying information on
    > geographical area of the collection. We are also bound the terms of the
    > consent documents that were used for enrolment of the participants in the
    > study and whilst I have not reviewed them first hand, I would doubt that
    > they have clauses contained within that enable sharing of data with
    > genealogy or ancestry companies or communities. Ethics approval boards would
    > take issue with this.
    This is individual-level genotype data of the most
    > sensitive nature and we take the responsibility of protecting participant
    > privacy extremely seriously. We therefore require that the data is placed in
    > a safe, controlled, research environment, where we may take legal action
    > against the legal entity that signed the DAA if data misuse is discovered.
    > Any breach of security would seriously affect the recruitment of current or
    > any future studies and be very damaging to the research endeavour as a
    > whole.
    >
    > In regard to your specific request, please note that it is impossible for
    > the EGA to pre-select or cluster the SNP data for those things that you are
    > interested in. (BS)
    >
    > The data is loaded within the EGA as individual-level data and this is how
    > it will be shared with anyone who has applied and been approved for access.
    > This is a fundamental point and it is true even if data is required for only
    > one SNP in the entire dataset. We recognise this is a limitation and a
    > significant burden for researchers who then must have the necessary
    > expertise and skills to analyse the data as it comes. Another key, but
    > important point about our data sharing policies is that data must not be
    > shared or passed on to others, but used entirely for the analysis for which
    > a successful application was approved. So this may limit it’s utility for
    > you and your colleagues.
    >
    > If you are affiliated with a research organisation that is able to sign up
    > to the terms of the Data Access Agreement, attached, we would of course
    > consider an application from you. Please note that we will not be influenced
    > or swayed by any outside intervention .
    >
    > Best wishes
    > Audrey
    > Dr Audrey Duncanson, Senior Portfolio Developer, Genetics and Molecular
    > Sciences, Wellcome Trust, Gibbs Building, 215 Euston Road, London, NW1 2BE,
    > UK. +44 (0)20 7611 8389 |a.duncanson@wellcome.ac.uk |
  14. @wiijy
    > How did you determine you are in one of the Wales “PoBI Cumbrian Clusters”? Did someone leak that information to you?

    Because they cluster sampled, and I know where my median grandparental location is.

    I am not part of the analysis team, and I have not tried to get access to either my data or the whole dataset.

    I am just baffled as to why people might be upset. The fact that it is anonymised and you can't get individualised results was explicit in the material given when you give a sample (and get measured). If they didn't like that they they shouldn't have volunteered.

    Any blame for this can be shared between the University Ethics committee who will have insisted on anonymity and the researchers, who couldn't be bothered (or didn't have the time/money) to challenge it. I have no particular knowledge of this study but experience of Ethics committees and grant writing.


    > One of the biggest offenders in Sphere #1 & #3 is Burroughs Wellcome when they did their POBI – People of the British Isles study.

    You need to find out the difference between the Wellcome Trust and Burroughs Wellcome the (now extant) drugs company (part of GlaxoSmithKline).

    wiijy said:

    “You need to find out the difference between the Wellcome Trust and Burroughs Wellcome the (now extant) drugs company (part of GlaxoSmithKline).”

    Jones says: The difference to the Genetic Genealogy community and those seeking more info in the Lay Personalized Medicine realm for an Individual is: ” BW = Evil” WT= More Evil”.

    PoBI researchers and the Wellcome Trust coyly said they are interested in “only genetic biomedical research” and not genetic genealogy nor genetic population research. The PoBI paper in Nature was ONLY about genetic genealogy and genetic population research.

    The Wellcome Trust speaks evilly and unevenly out of the both sides of their mouth while using big data to develop costly new drugs that will cost us all an arm and a leg if we need them for own Personalized Medicine purposes. They want to hang this wrap on one Academic Ethics Committee or another (which has people they and others fund with research grants) See:

    http://www.peopleofthebritishisles.org/nl6.pdf

    You might find informative this March 2015 email exchange:
    ****
    Razib K Mar 25
    To
    George Jones
    thanks!
    ****
    Mar 25, 2015 at 6:50 AM, George Jones wrote:
    > Hi Razib,
    >
    > When you write about PoBI in detail you might want to touch upon the
    > Wellcome Trust policy of not even providing > ’17 Group Level’ De Identified Data to those in the Genetic Genealogy Community.
    >
    > Here’s a series of emails detailing this Wellcome policy.
    >
    > It appears neither RAZIB, FTDNA, ANCESTRYDNA, 23ANDME, DIENEKES, GEDMATCH, OTHER GENETIC GENEALOGY RESEARCHERS will have access to the British PoBI anonymized macro data because of the unreasonable controls at Wellcome Trust.
    > My comments are in ( )
    >
    > George Jones
    ****
    > —– Forwarded Message —–
    > From: “Duncanson, Audrey”
    > To: George Jones
    > Cc: “Dunn, Michael”
    > Sent: Tuesday, March 24, 2015 10:56 AM
    > Subject: RE: ACCESS TO DE-IDENTIFIED POBI GROUP LEVEL DATA
    >
    > Dear Mr. Jones:
    >
    > Thank you for your enquiry regarding access to POBI data. Michael Dunn has
    > passed this to me as I deal with data access for POBI and other genomics projects here at the Wellcome Trust.
    >
    > The POBI data is available for access through the European Genotype Archive
    > (EGA) and was available at the same time as the Nature publication. The
    > Wellcome Trust takes data sharing very seriously and we have invested in and
    > support data sharing mechanisms to ensure the data from our projects is
    > shared as widely as possible.
    >
    > However, I must emphasise that we fund research such as POBI as biomedical
    > research and not genetic genealogy.

    >
    > Although the POBI project, it could be argued is somewhat removed from
    > biomedical health research, one never knows where discoveries in health will
    > be made and the data from the project has been used, and will continue to be
    > used, by researchers as controls for other genetic studies that may lead to
    > genetic discoveries. The project is of course hugely interesting in and of
    > itself, as proved by the public and media response to the publication. (Sure
    > — it’s interesting to the general public because of the group level 17
    > cluster genetic / geographic information …. not from the biomedical health
    > research angle)
    >
    > Our data sharing mechanisms reflect our funding focus and the data is made
    > available to researchers in bona fide research institutions, that are able
    > to sign up to the Data Access Agreements (DAA) at an Institutional level. (I
    > guess there are PhDs who do Genetic Population research at institutions …
    > and then there are lay Genetic Genealogy researchers who have done some
    > pretty amazing work with NGS discovery of various Y-DNA Hgs … and the PoBI
    > researchers did not use a lick of Y-DNA SNP aging research to validate atDNA
    > aging and migration findings)
    >
    > The data from POBI and other studies we support is very sensitive, given
    > what is known about the participants and accompanying information on
    > geographical area of the collection. We are also bound the terms of the
    > consent documents that were used for enrolment of the participants in the
    > study and whilst I have not reviewed them first hand, I would doubt that
    > they have clauses contained within that enable sharing of data with
    > genealogy or ancestry companies or communities. Ethics approval boards would
    > take issue with this.
    This is individual-level genotype data of the most
    > sensitive nature and we take the responsibility of protecting participant
    > privacy extremely seriously. We therefore require that the data is placed in
    > a safe, controlled, research environment, where we may take legal action
    > against the legal entity that signed the DAA if data misuse is discovered.
    > Any breach of security would seriously affect the recruitment of current or
    > any future studies and be very damaging to the research endeavour as a
    > whole.
    >
    > In regard to your specific request, please note that it is impossible for
    > the EGA to pre-select or cluster the SNP data for those things that you are
    > interested in. (BS)
    >
    > The data is loaded within the EGA as individual-level data and this is how
    > it will be shared with anyone who has applied and been approved for access.
    > This is a fundamental point and it is true even if data is required for only
    > one SNP in the entire dataset. We recognise this is a limitation and a
    > significant burden for researchers who then must have the necessary
    > expertise and skills to analyse the data as it comes. Another key, but
    > important point about our data sharing policies is that data must not be
    > shared or passed on to others, but used entirely for the analysis for which
    > a successful application was approved. So this may limit it’s utility for
    > you and your colleagues.
    >
    > If you are affiliated with a research organisation that is able to sign up
    > to the terms of the Data Access Agreement, attached, we would of course
    > consider an application from you. Please note that we will not be influenced
    > or swayed by any outside intervention .
    >
    > Best wishes
    > Audrey
    > Dr Audrey Duncanson, Senior Portfolio Developer, Genetics and Molecular
    > Sciences, Wellcome Trust, Gibbs Building, 215 Euston Road, London, NW1 2BE,
    > UK. +44 (0)20 7611 8389 |a.duncanson@wellcome.ac.uk |

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