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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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Filed Under: data, ethics, genetic tests, information, privacy
Companies: amgen, decode


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  1. 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.

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