Should People Be Told Key Results Of Genetic Tests They Never Took?

from the ethical-dilemmas dept

The population of Iceland is unusual in a number of ways. Icelanders are descendants from a relatively small group of early settlers that remained isolated for hundreds of years. They have unmatched genealogical records that allow the family tree of many Icelanders to be traced back a thousand years, and thus for familial interrelationships on the island to be established with unprecedented completeness. Put those together, and you have a population that offers unique advantages for studying human genetics. That fact led to the founding of the Icelandic company Decode, which was set up in the hope that it would be possible to use Iceland's population to pinpoint genes associated with medical conditions, and then come up with new ways of diagnosing, treating and preventing them.

That didn't work out, and in 2012, Decode was bought by Amgen. But technology has advanced hugely since Decode's founding in 1996. The cost of sequencing the human genome has fallen dramatically, allowing the DNA of thousands of people to be compared -- something prohibitively expensive 20 years ago. The New York Times reports on research by Decode that has resulted in the sequencing of the genomes of 2,636 Icelanders, the largest collection ever analyzed in a single human population. Because of the completeness of Iceland's genealogical records, Decode's scientists were able to do something rather remarkable: work out the full genomes of another 100,000 Icelanders, a third of the entire country, without collecting any of their DNA.

With a technique called imputation, the researchers say they are able to ascertain the full genomes of people they have not even examined. Dr. Stefansson said that means that his firm could generate a report for genetic disease on every person in Iceland.
Once those "imputed" genomes have been constructed using computers, they can be interrogated in novel ways:
With the push of a button, for instance, the firm can identify every person with the well-known BRCA2 mutation, which dramatically raises the risk of breast and ovarian cancer -- even if they have not submitted to genetic testing themselves.

Currently, that information is withheld from Icelanders, but Dr. Stefansson hopes that the government will change its policy. “It’s a crime not to approach these people,” he said.
That raises an interesting ethical question. Should people who have never had their genome sequenced be told the results of this kind of computer-based analysis? Although the Icelandic case might seem unique, it is only a matter of time before sequencing costs fall so far that millions, rather than thousands of individuals can be sequenced within a population. And the more genomes that are available, the more imputed genomes that can be calculated, making the ethical dilemmas faced in Iceland something that people in other countries will soon have to confront too.

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  • icon
    That One Guy (profile), 7 Apr 2015 @ 1:30am

    I think in this case the proper thing to do would be to tell people, though at the same time make it very clear that their data is based not upon a direct DNA test, but extrapolation from other data. What they chose to do with the information after that would be up to them.

    reply to this | link to this | view in chronology ]

    • icon
      sigalrm (profile), 7 Apr 2015 @ 12:46pm

      Re:

      This is, ethically speaking, a highly complex subject. And anyone with a black and white answer in either direction should have their motivations heavily scrutinized.

      Imagine, for a moment, that a highly reliable test (say, 95%) was available for a, incurable condition - say, ALS.

      Would you want to know, with a high degree of certainty that you would get it?

      Tweak that: Now, instead of ALS, it's melanoma.

      Tweak that: Now, it's a condition that can only be passed to a child if both parents having a particular recessive gene. And one of your parents doesn't have it.

      Tweak that: Now, one of your parents - whom you love dearly - isn't your actual parent, and you live in a culture where adultery is punishable by death?

      Does your answer change, based on the scenario?

      At a small scale, the implications are enormous. At a larger scale, the implications to society could be staggering.

      Some people would absolutely want to know. Others absolutely wouldn't. Some might want their primary care physician to be informed, but wouldn't want to know themselves. The reactions would run the full gambit of possible answers.

      I think from both practical and ethical perspectives, all or nothing isn't going to be a viable option here. Some sort of opt-in/opt-out system should be set up.

      reply to this | link to this | view in chronology ]

  • identicon
    Anonymous Coward, 7 Apr 2015 @ 1:56am

    What a superb adverting tool for the money grabbing pharma companies that database is.

    /Sarc

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  • icon
    Rambler330 (profile), 7 Apr 2015 @ 1:56am

    Someone probably already has plans to incorporate the information into all the other marketing/marketable data on people and sell it.

    reply to this | link to this | view in chronology ]

  • identicon
    Anonymous Coward, 7 Apr 2015 @ 2:13am

    The true question is whether or not people of different faiths should be treated differently or not...

    My fellow Jews try to claim there's a Jew gene all the while ignoring the fact that we've interbred with Europeans for over a thousand years which almost a third of which was spent here in North America... And then they try to claim that we're a distinct race which is like calling people with blue eyes a race unto their own....

    So long as this doesn't steer towards a dystopian future reminiscent of the movie Gatatica, I'm all for sequencing the masses but as soon as ambiguous blockades get in the way of 'ingenuity' will I stand against it.

    reply to this | link to this | view in chronology ]

  • identicon
    Yes, I know I'm commenting anonymously, 7 Apr 2015 @ 3:59am

    How definite can you be?

    It would be unethical to present these decuced conclusions as fact. The most you can do is to notify these people that they might have the gene and advise them to test for it.

    It is also very important that, if you notify them, to also involve medical professionals who can and will provide long term support and advise (i.e. their own GP).

    reply to this | link to this | view in chronology ]

    • icon
      sigalrm (profile), 7 Apr 2015 @ 12:49pm

      Re: How definite can you be?

      You can safely assume that the larger the sample set, the higher the confidence level.

      It's conceivable that, given a sufficiently large sample set, these deduced conclusions will at some point have a similar degree of accuracy to direct testing.

      reply to this | link to this | view in chronology ]

  • identicon
    Anonymous Coward, 7 Apr 2015 @ 4:31am

    East Germany Stasi Records

    In East Germany, you can look up the Stasi files for yourself (and only yourself). The same could be a solution here: allow each citizen to request the DNA records for themselves, if they want to. Announce it widely so people get interested.

    reply to this | link to this | view in chronology ]

  • icon
    Padpaw (profile), 7 Apr 2015 @ 4:45am

    The first thing that springs to mind is. Could they claim copyright over DNA they have never collected much like so many "medical" corporations have been doing lately

    reply to this | link to this | view in chronology ]

    • identicon
      Anonymous Coward, 7 Apr 2015 @ 6:16am

      Re:

      You cannot copyright naturally occurring DNA sequences. You can however patent technology to test for or treat the sequence. You can also obfuscate what the actual sequence is. But you cannot copyright it.

      reply to this | link to this | view in chronology ]

    • icon
      Oblate (profile), 7 Apr 2015 @ 12:37pm

      Re:

      I thought that in cases like this they were primarily interested in claiming derivative works, usually the initial one. This might be in addition to or in lieu of monetary payment.

      reply to this | link to this | view in chronology ]

  • icon
    OldMugwump (profile), 7 Apr 2015 @ 7:32am

    I don't see the dilemma

    Where is the dilemma here?

    I don't know enough of the biology to know how reliable these "imputed" sequences are, but what is the harm of informing people about their own genome?

    I guess I don't get it. Can somebody explain?

    reply to this | link to this | view in chronology ]

    • identicon
      PRMan, 7 Apr 2015 @ 10:19am

      Re: I don't see the dilemma

      People could have mutations that would make the extrapolation false. This would be extremely rare, but possible. Without testing themselves, there is no way to be 100% sure.

      reply to this | link to this | view in chronology ]

    • identicon
      KRA, 7 Apr 2015 @ 3:17pm

      Re: I don't see the dilemma

      I don't want to know if I'm predisposed to get something I can't do a thing about. More than that, though, I don't want some corporation or the government to know that I'm predisposed to get something I can't do a thing about. And finally, I have no issue at all with bona fide scientists dedicated to privacy having access to whatever genetic info they want about me. If only it were possible to limit it to that.

      reply to this | link to this | view in chronology ]

  • icon
    John Fenderson (profile), 7 Apr 2015 @ 7:49am

    The problem with Big Data

    As to notification, I agree with OldMugwump -- notifying these people seems like a no-brainer. In fact, I think it would be unethical not to.

    However, this situation highlights the larger problem with Big Data for me: this is a dramatic example of how such data collection and analytics strip people of their privacy even when they don't take part in the data collection.

    Frankly, it's downright dystopian.

    reply to this | link to this | view in chronology ]

  • icon
    Roger Strong (profile), 7 Apr 2015 @ 8:40am

    The more important question is, "Should Insurance Companies Be Told Key Results Of Genetic Tests You Never Took?"

    Because what this tells us is that now you can be denied coverage because of a genetic condition even when you've never been tested for it.

    reply to this | link to this | view in chronology ]

    • identicon
      Anonymous Coward, 7 Apr 2015 @ 8:48am

      Re:

      ...now you can be denied coverage because of a genetic condition even when you've never been tested for it...

      Well the US' "Obamacare" law, as bloated as it is, outlawed such practices.

      That's about the only good thing I can say about "Obamacare".

      reply to this | link to this | view in chronology ]

      • icon
        John Fenderson (profile), 7 Apr 2015 @ 8:53am

        Re: Re:

        But there's no Obamacare in Iceland.

        reply to this | link to this | view in chronology ]

        • identicon
          Thrudd, 7 Apr 2015 @ 9:02am

          Re: Re: Re:

          There is no Obamacare anywhere else in the world thank the goddess.

          Truth be told that for national healthcare systems designed to keep people healthy instead of providers wealthy, this is a good thing. Information is ammunition and knowing is half the battle.

          reply to this | link to this | view in chronology ]

  • icon
    Spaceman Spiff (profile), 7 Apr 2015 @ 9:11am

    What a great question!

    "That raises an interesting ethical question. Should people who have never had their genome sequenced be told the results of this kind of computer-based analysis?"

    I think not, but they SHOULD be given the opportunity to find out if they so wish. People can stay ignorant if that is their wish, but they should also have the option to find out what science says about this.

    reply to this | link to this | view in chronology ]

  • identicon
    Anonymous Coward, 7 Apr 2015 @ 10:02am

    I'm the son of Buck Rogers

    It makes perfect sense why it's the government that's holding back the release of this data.

    A company without any contractual obligation to secrecy has my genome. The reason they've got it is because my family has faithfully filled out the government census forms? I know what I'd be putting on the next census.

    reply to this | link to this | view in chronology ]

  • identicon
    BlueBearr, 7 Apr 2015 @ 10:02am

    How about offer?

    Why can't the company just offer to tell anyone the results of their analysis if they ask? Release some press releases, or run an advertising campaign. That way they don't have to wait for the government's permission, it might increase goodwill for the company, and they may gain permission to do further tests on some of those people that they are interested in.

    No ethical question required!

    reply to this | link to this | view in chronology ]

  • identicon
    Anonymous Coward, 7 Apr 2015 @ 12:34pm

    I call BS.

    There's no way 2636 samples gets you 100,000 full results for living people. You could test the genomes of my parents, and you would have a range of what my genome COULD be, but you would not know what MY genome was unless you had other information. (Just knowing I'm the child of person A and person B makes me indistinguishable from my siblings, genetically, even if you know the full genetic sequence of my parents. You can deduce that my Y chromosome is the same as my father's from my gender, but so is my brother's.) Testing my siblings would not give you any information that you didn't already get from my parents. Testing my children could give you additional information, but each child is only going to have half of my genes, and the odds would be over a million to one against getting the full picture even from 2 of them.

    Partial results, sure. Possible results, sure. But not full results for 37 times the sequenced population. You might be able to go "uphill" and deduce sequences for ancestors if you have the sequences for enough children, but there is no way to go "downhill" to deduce the sequence for children or "sideways" to get them for siblings.

    ... unless you have more information on me. If you dig through my medical records and see that I have a particular genetic disease, you can see that I must have inherited a particular chromosome. If you see that I have a particular blood type you can deduce that I inherited another chromosome. You can look at my hair color (and hope I don't dye it), my eye color, etc. If you can find one indication like this per chromosome you COULD deduce my genome, given the genomes of my parents. But THIS would be a rather large invasion of privacy.

    reply to this | link to this | view in chronology ]

  • identicon
    Just aCoward, 8 Apr 2015 @ 2:12pm

    Insurance company wet dream

    It's the perfect opportunity for insurance companies to deny your health or life insurance due to 'pre-existing' conditions or dispensation towards a condition.

    reply to this | link to this | view in chronology ]

  • identicon
    Harper, 11 Apr 2015 @ 1:09am

    One word: epigenetics.

    Everyone up in arms here about what companies (insurance, employers) can do with your DNA data (it's interesting that it can *apparently* be worked out without even getting a sample from you directly), are all incorrect. And, companies would ALSO be totally incorrect, to place a SCRAP of significance on one's DNA sequence like in Gattaca.

    This WHOLE thing about genes being your pre-determined lot in life (whether cancer, diabetes, any other contition) is *extremely* out of date, and SO last century. (Like fat and cholesterol being bad for you, period, end of. Rolleyes.)

    The pharmaceutical industry would LOVE you to continue thinking you're utterly powerless to the diseases that they make so much money off of - but even THEY cannot (and have not), denied, that genetics, and if you ask any geneticist they will tell you - is now as much about EPIGENETICS as the umbrella word 'genetics', itself.

    Enlightening fact from science: Only 2% of the DNA in our body are our actual 'genes' itself - 98% of DNA in our body is epigenetic material(!), which is ALL able to shape, tweak, temper, regulate, filter (however you want to describe all its influences), and LITERALLY turn on, and off, the expression of BOTH good, and bad genes (however you define 'good' and 'bad' there). E.g. VDR gene, 'vitamin d receptor' gene, can be significantly epigenetically affected to totally alter an original 'abnormality' in your inherited behavior of it, based on your vitamin b in take (I think it was B6) via bacteria in your gut.

    Genes from bacteria in our gut play a MAJOR role in epigenetics, where I have read they even interact with ours! Diet and lifestyle has a MAJOR thing or two to say about just how, your genes play out in REALITY. So no, you are NOT powerless to breast cancer when you're 50, and you're NOT doomed for obesity or diabetes by your 30's as those who would LOVE to 'manage' your condition would prefer you to believe.

    So the only issue at stake here, is, well, privacy itself. I guess, if the state knows a given person's biological parents, and there's no breaks in the chain to known DNA from a relative above you - well, they can find out your DNA (and some info about you - POTENTIALLY) - without you having shared anything other than the details of the biological parents on the birth registration itself.

    I don't agree with birth registration anyway, (other than, it's a necessary evil if you want to do certain things in this modern world, like drive a car legally), but really, given epigenetics, it's not much worse about what they know about you than telling them your relations and basic ID details already anyway.

    You can TOTALLY change your DNA and the expression of your genes via diet and lifestyle, and that's what interesting here - it means nothing other than possible identification based on DNA similarity to your biological parents and relatives.

    reply to this | link to this | view in chronology ]


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