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The Results of Your Genetic Test Are Reassuring. But That Can Change. (nytimes.com)

Posted by msmash on from the closer-look dept.

Laboratories frequently "reclassify" genetic mutations. But there is no reliable system for telling patients or doctors that the results of their genetic tests are no longer valid. From a report: The results of a genetic test may seem final -- after all, a gene mutation is present or it is not. That mutation increases the risk of a disease, or it does not. In fact, those findings are not as straightforward as they might seem, and the consequences may have grave implications for patients. While a person's genome doesn't change, the research linking particular bits of DNA to disease is very much in flux. Geneticists and testing labs constantly receive new information that leads them to reassess genetic mutations. As a result, a mutation seen as benign today may be found dangerous tomorrow. And vice versa. But there is no good way to get the new information to doctors and patients.

The result: The gene test you had a few years ago might yield a startlingly different result now. The problem affects a minority of patients, mostly people with unusual mutations. The more common disease-causing mutations -- like those that predispose you to breast or colon cancer -- are so well studied that their meaning is not in doubt. In a recent study, researchers at Myriad Genetics, a diagnostic company, reviewed data on 1.45 million patients who had genetic tests from 2006 to 2016 to see if the results originally reported still held true. The lab issued new reports for nearly 60,000 of them, meaning the old results had been superseded by new data. But many patients who carry mutations that have been reclassified remain in the dark.

57 comments

  1. Ask an expert... by zippo01 · · Score: 5, Funny

    We should get Elizabeth Warren's opinion on this.

    1. Re: Ask an expert... by Anonymous Coward · · Score: 0

      So today, she has no Cherokee heritage, but tomorrow she might be a full-blooded Cherokee man?!?

    2. Re:Ask an expert... by Anonymous Coward · · Score: 1

      She's out raiding a paleface camp right now. She will return in two moons.

    3. Re:Ask an expert... by Anonymous Coward · · Score: 0

      Fauxahontas shall be her new name.

    4. Re:Ask an expert... by Anonymous Coward · · Score: 0

      Elizabeth "it's OK to be 99.91% white" Warren.

      0.1% is strong evidence of central/south American Indian heritage 6-10 generations ago but XX chromosomes means nothing.

    5. Re:Ask an expert... by Anonymous Coward · · Score: 0

      Notice that she did not submit her genes to one of the well known companies instead having her own expert do the study. President Obama actually had a person following him around to mop up traces of his DNA (for national security reasons?)
      I wonder what they know about current capabilities that has them so worried.

    6. Re:Ask an expert... by Anonymous Coward · · Score: 0

      That's a good joke, but to get a real expert we need to ask god. All of his writings are all pretty much final draft, but the interpretations change by the hour.

    7. Re: Ask an expert... by jd · · Score: 1

      You offer no evidence.

      Indeed, as the latter is impossible, I'll state that you're attempting to defraud people of the right to discuss the issue.

      --
      It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
    8. Re: Ask an expert... by Anonymous Coward · · Score: 0

      https://www.bostonglobe.com/news/politics/2018/10/15/warren-addresses-native-american-issue/YEUaGzsefB0gPBe2AbmSVO/story.html
      "Warren didn’t use a commercial service, but Bustamante is on the scientific advisory board for Ancestry, which provides commercial DNA tests. He’s also consulted on a project for 23andMe, another major DNA testing company. "
      https://www.theatlantic.com/magazine/archive/2012/11/hacking-the-presidents-dna/309147/
      "The U.S. government is surreptitiously collecting the DNA of world leaders, and is reportedly protecting that of Barack Obama. Decoded, these genetic blueprints could provide compromising information. In the not-too-distant future, they may provide something more as well—the basis for the creation of personalized bioweapons that could take down a president and leave no trace."

  2. Your place of origin changes too... by Oswald+McWeany · · Score: 1

    The place I got mine from changed their results a year after signing up. My racial makeup and my ancestors origins changed quite dramatically.

    --
    "That's the way to do it" - Punch
    1. Re:Your place of origin changes too... by Anonymous Coward · · Score: 1

      Am I to understand that your position on the matter is that we know all there is to know about the impacts of genetics on health and diseases? Because you seem to assert that the only reason a prognosis may change without an actual diagnosis, is if there was a change in the underlying genome itself (ancestral origin)?

      To confuse many readers:
      If such reasoning is applied to computers, then it would be that a computer that was up to date as of February 1st, 2013 could not possibly have any unpatched vulnerabilities which were unknown prior to February 1st, 2013. That there is no equivalent to spectre and meltdown in our understanding of biology and genetics.

    2. Re:Your place of origin changes too... by Anonymous Coward · · Score: 0

      Wow, you're really reaching there...

    3. Re:Your place of origin changes too... by Anonymous Coward · · Score: 1

      The article is about us learning more about the genome and how biology, health, and disease are subsequently impacted. The article basically says:

      We didn't know this gene caused such and such, so we told that person who has the gene that they wouldn't get such and such, because they didn't have any other such and such genes. Oops...

      Which is to say, we didn't know such and such was a serious issue.

    4. Re:Your place of origin changes too... by Oswald+McWeany · · Score: 1

      Am I to understand that your position on the matter is that we know all there is to know about the impacts of genetics on health and diseases? Because you seem to assert that the only reason a prognosis may change without an actual diagnosis, is if there was a change in the underlying genome itself (ancestral origin)?

      To confuse many readers:
      If such reasoning is applied to computers, then it would be that a computer that was up to date as of February 1st, 2013 could not possibly have any unpatched vulnerabilities which were unknown prior to February 1st, 2013. That there is no equivalent to spectre and meltdown in our understanding of biology and genetics.

      Am I to understand from your response that you think Pepsi tastes better than Coca Cola? Because you said one thing and I'm going to make up something completely random so that my response to yours is in tune to the response you gave to me.

      --
      "That's the way to do it" - Punch
    5. Re:Your place of origin changes too... by Anonymous Coward · · Score: 0

      How does "discovering that a core instruction set has a serious risk associated with it which has with widespread implications that were not previously known", have no correlative connection between genetics and computing?

      Because nobody has ever compared DNA and genes to "instruction sets"...

    6. Re:Your place of origin changes too... by Anonymous Coward · · Score: 0

      AmiMojo, stop spam-posting. Real anonymous users can't troll Slashdot that fast.

      If you want to make convincing anonymous posts, actually open a new window where you are not logged in rather than using the "Post anonymously" checkbox.

      At least you did learn when I mentioned that only the logged-in numbered trolls of Slashdot can read posting signatures. So I am impressed by that.

    7. Re: Your place of origin changes too... by jd · · Score: 1

      Since DNA labs do not provide any of that, they can only provide probable origins based on data available or direct patrilineal/matrilineal descent (which won't have changed), we can infer you didn't understand what was being offered.

      They may have been unclear, but as this has been public knowledge for a very long time, it was your responsibility to understand.

      --
      It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
    8. Re: Your place of origin changes too... by jd · · Score: 1

      Odds are, nobody ever told a person "you won't get X". Not how it is done.

      Standard practice is to say "you didn't test for any known mutations". You can develop those mutations at any time and your DNA can be modified by viral and bacterial infections. Further, everyone alive is also a chimera - born with multiple genomes - in addition to a mosaic.

      Same reason why nobody says "you will get X". It's a game of statistics, a mutation might alter the odds by 1-5% in either direction, but it is never 0 and never 100%.

      --
      It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
    9. Re: Your place of origin changes too... by Anonymous Coward · · Score: 0

      Yes, exactly. And the article is about finding a way to notify those who have already been tested that the first results were incorrect. The 1-5% modification was based on an invalid baseline, which means that the original results could be off by over 5%, perhaps even as much as 40%.

  3. creimer is hung like a gnarled toothpick. by Anonymous Coward · · Score: 0

    creimer's genetics explain his microscopic cock: He's a distant relative of multiple Chinamen from the Genghis Khan times.

  4. c6gunner needs to STOP IMPERSONATING ME... apk by Anonymous Coward · · Score: 0

    See subject: You're IMPERSONATING me (as you can't ever get the better of me, especially on my points on hosts files). I am God's gift to Slashdot and my hosts file engine provides full protection from Spectre & Meltdown. No other software protects against speculative execution vulnerabilities. That's a fact even FAKEname trolls lie you can't deny.

    Where's your house fully paid for all bills & taxes current TROLL? It's not - trolls like YOU live under a bridge (hence WHY you HIDE from me STALKING ME by your UNIDENTIFIABLE anonymous and FAKENAME posts like the 'brave guy' you are(n't)).

    * How many times have I utterly DUSTED YOU in tech debates under your DOUBTLESS many SOCKPUPPET 'fakename' accounts you use here, hmmm?

    TONS (& you doing what you do proves it).

    APK

    P.S.=> You're a fool - a DO-NOTHING "ne'er-do-well" troll loser, nothing more... apk

    1. Re: c6gunner needs to STOP IMPERSONATING ME... apk by Anonymous Coward · · Score: 0

      For the love of God, shut your mouth and stop typing. No one cares about your obsession with c6gunner. How many posts have you made about c6gunner in the past 24 hours? It has to be 20-30 posts. You are obsessed with c6gunner and it's creepy.

  5. c6gunner = fake name massive human fail by Anonymous Coward · · Score: 0

    See subject: Your MASSIVE FAIL in this life is you're nothing more than a chattering little do-nothing "ne'er-do-well" online & you know it...

    * Is that the best your "phantasyland FAKE NAME" (for your fake lie of a so-called 'life') can manage?

    When a FAKE NAME do nothing like YOU does better than I have? Then talk (you're all talk & no action)...

    You can't help you're an immature little BUTTHURT no-mind, lol! I blew you away in TONS OF PLACES and easily dust your no-mind bullshit blatherings.

    APK

    P.S.=> The TRUE PRICE of your UNIDENTIFIABLE FAKE NAME do-nothing selves like you that I can ALWAYS CASH IN ON (lol) is that I can use FACT/TRUTH on them to SHATTER their all TOO fragile delusional egos that they actually know A DAMN THING in computing, lol... apk

  6. So we're all "Native Americans" now? by Anonymous Coward · · Score: 1

    If 1/1024 South/Central American is enough for a rich, entitled, lily-white person to claim "person of color" status and the "victimhood" that entails, we're all victims now.

    Pocahontas may have done the world a service by helping to drive a stake through the heart of the "critical race theory" IMA BIGGA VICTIM DEN YOUZ! divisive RACIST BULLSHIT.

    1. Re:So we're all "Native Americans" now? by Anonymous Coward · · Score: 0

      If you were born in the Americas you're a native American. It doesn't matter what flower you compare your skin to.

  7. fun fact: by buddyglass · · Score: 2

    There's tons of stuff not detected by the more common "non-medical" tests, e.g. 23andme, ancestry.com, etc. I paid $500 for a "medical" genetic screening (from Counsyl) as part of a fertility consultation. It found I'm a carrier for Smith-Lemli-Opitz syndrome. To my knowledge, 23andme doesn't even test for it.

    1. Re: fun fact: by Hachima · · Score: 4, Informative

      For $5 you can take the raw data dump provided by 23andme and have it processed by Prometheus and they give you all sorts of details not covered by 23andme. For that fee you can have your data reprocessed for free in the future to apply it to the latest research available.

    2. Re:fun fact: by Anonymous Coward · · Score: 0

      Wasn't there some lawsuit years ago where a company claimed ownership of a gene making them the exclusive company to test for it? I think it had something to do with breast cancer. If this is the case genetic testing through a company without patents would be pointless.

    3. Re: fun fact: by Anonymous Coward · · Score: 3, Informative

      The common genetic tests use a microarray gene chip, which only covers well-known mutations. They're not actually reading your DNA sequence. Further, in some cases, they're inferring the presence of mutations by looking at nearby linked sequences. If it's really important, you should have sequencing done on the gene (probably what buddyglass had, but it's not cheap). Even in that case, if a novel mutation is detected, some mutations have no effect. Sometimes, not always, you can make a good guess on effect. To know for sure, you need an activity test on the DNA or protein product. Myriad sometimes does this for novel BRCA mutants, but again, it's not cheap.

    4. Re: fun fact: by Tony+Isaac · · Score: 1

      They're not actually reading your DNA sequence

      While you are correct, this does not reduce the accuracy or usability of tests done by a microarray. All of these tests, including whole-genome tests, use statistical probabilities to read every result they find. The result is a process that has proven extremely reliable.

      For Smith-Lemli-Opitz syndrome specifically, it is possible to use mass-market DNA tests to determine whether you have the mutations that correlate with the syndrome.

      https://www.snpedia.com/index....

  8. Confused. by Anonymous Coward · · Score: 0

    My DNA test showed that my aunt is my daughter, my sister is my daughter, and my granddaughter is also my daughter.

    I just don't get it.

    1. Re:Confused. by Anonymous Coward · · Score: 0

      My DNA test showed that my aunt is my daughter, my sister is my daughter, and my granddaughter is also my daughter.

      I just don't get it.

      Let me explain.

      You live in West Virginia.

    2. Re: Confused. by jd · · Score: 1

      Since a DNA test doesn't show relationships, the DNA test did not do that.

      My guess is that you don't know what a DNA test does do.

      --
      It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
    3. Re: Confused. by Anonymous Coward · · Score: 0

      My guess is that you squirt your DNA into your mother's ass on a regular basis.

  9. Email? by Hachima · · Score: 2

    Email seems like a reliably way to inform people... 23andme sends emails out when they find new changes and have updates.

  10. Shark Jumped by Anonymous Coward · · Score: 0

    Are you insinuating that Ms. Warren is claiming the 1/1024th number regarding the ratio of Native American ancestry to the rest of her genetic makeup is inaccurate? That she holds that her ratio is higher than the rest of the nation, and that she is calling the 1/1024th number fake news?

    Or are you insinuating that the level of scientific knowledge available is so insignificant that it cannot used to accurately gauge a persons race, heritage, or even gender? That you are claiming the 1/1024th number is actually fake news?

    Otherwise I think that comment was so contextually off and incoherent that it jumped the shark,...

  11. I can speak from experience by Anonymous Coward · · Score: 0

    I have a non specific mutation of MYH11 that is causing heart problems. I regularly read the wikipedia article on this gene in hopes that someone feels like posting new conclusions about it's repercussions for other shit. The only reason i do this is because it's hard to get a geneticist to see you more than once.

    1. Re: I can speak from experience by jd · · Score: 1

      Your best bet is to monitor SNPedia and PLOS One.

      --
      It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
  12. c6gunner IMPERSONATING me again? by Anonymous Coward · · Score: 0

    See subject: his FAKEname on a post impersonating me https://linux.slashdot.org/com... & altering /.er's words.

    c6gunner tried to mock me 1st https://linux.slashdot.org/com...

    So I challenge c6gunner to show he did better work than mine & he CAN'T!

    YOU DEMAND PROOF of others here?

    "I've yet to see you provide any evidence of that." by c6gunner on Monday March 15, 2010 @10:02PM (#31490942) ?

    So now I DEMAND IT OF YOU & YOU FAIL!

    c6gunner = "Run, Forrest: RUN!!!

    * c6gunner's LYING saying I did a MacOS X one - I haven't yet & c6gunner's LYING impersonating me saying hosts work vs. Intel CPU issues (spectre/meltdown).

    APK

    P.S.=> You say hosts = shit here https://slashdot.org/comments.... ?

    FACTS: /.ers & security pros + RESULTS say DIFFERENT:

    1st: /.ers https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments....

    2nd: SECURITY PROS https://slashdot.org/comments....

    3rd: REAL RESULTS w/ hosts vs. threats https://slashdot.org/comments....

    EAT YOUR WORDS!

  13. c6gunner IMPERSONATING me again? by Anonymous Coward · · Score: 0

    See subject: his FAKEname on a post impersonating me https://linux.slashdot.org/com... & altering /.er's words.

    c6gunner tried to mock me 1st https://linux.slashdot.org/com...

    So I challenge c6gunner to show he did better work than mine & he CAN'T!

    YOU DEMAND PROOF of others here?

    "I've yet to see you provide any evidence of that." by c6gunner on Monday March 15, 2010 @10:02PM (#31490942) ?

    So now I DEMAND IT OF YOU & YOU FAIL!

    c6gunner = "Run, Forrest: RUN!!!

    * c6gunner's LYING saying I did a MacOS X one - I haven't yet & c6gunner's LYING impersonating me saying hosts work vs. Intel CPU issues (spectre/meltdown).

    APK

    P.S.=> You say hosts = shit here https://slashdot.org/comments.... ?

    FACTS: /.ers & security pros + RESULTS say DIFFERENT:

    1st: /.ers https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments....

    2nd: SECURITY PROS https://slashdot.org/comments....

    3rd: REAL RESULTS w/ hosts vs. threats https://slashdot.org/comments....

    EAT YOUR WORDS!

  14. No you DO care c6gunner by Anonymous Coward · · Score: 0

    See subject (YOU care) & you're obviously c6gunner who doesn't want to be exposed impersonating me w/ PROOF https://linux.slashdot.org/com... and YOU got blown away for it too:

    You say hosts = shit here https://slashdot.org/comments.... ?

    FACTS: /.ers & security pros + RESULTS say DIFFERENT:

    1st: /.ers https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments....

    2nd: SECURITY PROS https://slashdot.org/comments....

    3rd: REAL RESULTS w/ hosts vs. threats https://slashdot.org/comments....

    EAT YOUR WORDS!

    APK

    P.S.=> Weak bullshitter you are REDUCED to either STALKING me by UNIDENTIFIABLE anonymous posts OR your IMPERSONATING me (proving you WISH you were ME but you can NEVER be that good as you're a DO-NOTHING "ne'er-do-well" shithead - you're POOR IMITATION? It's the sincerest form of FLATTERY)... apk

    1. Re: No you DO care c6gunner by Anonymous Coward · · Score: 0

      Retard APK thinks every AC is c6gunner. It's hilarious watching you make a total ass of yourself.

      You have no job and spend your days broke and alone in your $1 home with only your ex-marine live-in butt buddy to keep you conpany.

  15. Your kind doesn't like being exposed by Anonymous Coward · · Score: 0

    Your kind doesn't like being exposed: c6gunner doing it w/ PROOF exposed your kind as the shitbags you are https://science.slashdot.org/c... (1 of many fakenames he has I wager)!

    * Period...

    (A pack of LOW "weezil" whimps & "ne'er-do-well" WORTHLESS do-NOTHINGS that are LAZY little scumbag trolls & nothing more)

    APK

    P.S.=> Thanks for being SO stupid & "ReAcTiNg" under your UNIDENTIFIABLE anonymous posts you STALK me with too... apk

    1. Re: Your kind doesn't like being exposed by Anonymous Coward · · Score: 0

      Why should anyone believe you that you're being impersonated? You have no evidence since your posts are anonymous and anyone can post the same thing anonymously. Provide real evidence of impersonation rather than anonymous posts that you could have made yourself.

  16. Citation Needed by Anonymous Coward · · Score: 0

    Citation needed, and alt-right conspiracy nutjob sites don't count.

  17. settled? by Anonymous Coward · · Score: 0

    Wait a minute... I thought science could be settled? Now you're telling me that it ain't over 'till the fat lady sings?

  18. Few things by jd · · Score: 1

    First, your genome d

    --
    It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
    1. Re:Few things by Tony+Isaac · · Score: 1

      While it is true that your genome changes, the probability of change varies widely across the genome. Some locations (SNPs) are know NEVER (or nearly never) to change, others change every few generations, and still others change so often that reading them is meaningless. All of the DNA tests out there focus on SNPs that change only rarely, as in, once every few generations. Focusing on these SNPs makes the tests highly reliable as an indicator of the presence of a specific mutation.

  19. Few things by jd · · Score: 3, Interesting

    First, your genome does change. It changes per cell, slowly for most cells, but to the point every neuron in your brain has a distinct genome.

    Second, most of us know this and use companies that re-analyze the data on a regular basis. I use Promethease, which uses SNPedia, on a yearly basis.

    --
    It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
  20. Only reasonable test by jd · · Score: 1

    Would be a full exome decode. $500 seems a bit cheap for that, but it is possible.

    A complete exome sequencing would give you the best possible data on all medical conditions.

    --
    It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
    1. Re:Only reasonable test by Anonymous Coward · · Score: 0

      Best? Nope. Lacking: expression regulation element (promoters, methylation, ...), non protein coding genome (mRNA is not the whole story), alternative splicing alteration, ...

    2. Re:Only reasonable test by Anonymous Coward · · Score: 0

      Dante Labs offers whole genome sequencing with mtDNA for 500 Euros.

  21. I've had enough of you... apk by Anonymous Coward · · Score: 0

    See subject: I'm sick and tired of being bullied and impersonated by you JEALOUS JOWIES. It's time to put an end to your kind and your BULLSHIT.

    * I'm going to start using my old Ralph JewHater Nader to post here so you shitweasels can't impersonate me so easily.

    I will proudly expose the Juden lies and obsession with shekels while continuing to DUST your lies and feeble attempts to challenge me.

    APK

    P.S.=> Death to all kikes...apk

  22. Comparison proves it STUPID by Anonymous Coward · · Score: 0

    See subject: MY post https://it.slashdot.org/commen... he twisted https://linux.slashdot.org/com... posted as c6gunner, you RETARDED fucking IMBECILE.

    * There's probably LITTLE DOUBT you're one of those GENETICALLY fucked up "ASSbergers" types if you can't fathom that - & your FUCKED UP REASONING (while posting as an UNIDENTIFIABLE anonymous asswipe you are pussy)? Unbelievable.

    APK

    P.S.=> No "small wonder" LIMITED in skill DEFECTIVES like you can't produce anything good that others like, use & praise (but I do)... apk

  23. c6gunner IMPERSONATING me again? by Anonymous Coward · · Score: 0

    See subject: his FAKEname on a post impersonating me https://linux.slashdot.org/com... & altering /.er's words.

    c6gunner tried to mock me 1st https://linux.slashdot.org/com...

    So I challenge c6gunner to show he did better work than mine & he CAN'T!

    YOU DEMAND PROOF of others here?

    "I've yet to see you provide any evidence of that." by c6gunner on Monday March 15, 2010 @10:02PM (#31490942) ?

    So now I DEMAND IT OF YOU & YOU FAIL!

    c6gunner = "Run, Forrest: RUN!!!

    * c6gunner's LYING saying I did a MacOS X one - I haven't yet & c6gunner's LYING impersonating me saying hosts work vs. Intel CPU issues (spectre/meltdown).

    APK

    P.S.=> You say hosts = shit here https://slashdot.org/comments.... ?

    FACTS: /.ers & security pros + RESULTS say DIFFERENT:

    1st: /.ers https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments.... https://slashdot.org/comments....

    2nd: SECURITY PROS https://slashdot.org/comments....

    3rd: REAL RESULTS w/ hosts vs. threats https://slashdot.org/comments....

    EAT YOUR WORDS...

  24. There is a reliable system by Anonymous Coward · · Score: 0

    I can always go back to Promethease and generate a new report. If patients don't demand the raw data, that's another problem. Why do a lab test at all, if the person it concerns doesn't get the data? That's like not telling people what blood group they are.