The Results of Your Genetic Test Are Reassuring. But That Can Change. (nytimes.com) 57
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 But there is no reliable system for telling patients or doctors that the results of their genetic tests are no longer valid.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 The lab issued new reports for nearly 60,000 of them, meaning the old results had been superseded by new data.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.
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 The lab issued new reports for nearly 60,000 of them, meaning the old results had been superseded by new data.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.
Ask an expert... (Score:5, Funny)
Re: (Score:1)
She's out raiding a paleface camp right now. She will return in two moons.
Re: Ask an expert... (Score:2)
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.
Your place of origin changes too... (Score:2)
The place I got mine from changed their results a year after signing up. My racial makeup and my ancestors origins changed quite dramatically.
Re: (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 vulnerabil
Re: (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.
Re: Your place of origin changes too... (Score:2)
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
Re: (Score:2)
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.
Re: Your place of origin changes too... (Score:2)
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.
So we're all "Native Americans" now? (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.
fun fact: (Score:3)
Re: fun fact: (Score:5, Informative)
Re: (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 eff
Re: (Score:2)
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.... [snpedia.com]
Only reasonable test (Score:2)
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.
Re: Confused. (Score:2)
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.
Email? (Score:3)
Re: I can speak from experience (Score:2)
Your best bet is to monitor SNPedia and PLOS One.
Few things (Score:2)
First, your genome d
Few things (Score:4, 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.
Re: (Score:2)
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.