Genome Sequencing Trial To Test Benefits of Identifying Genetic Diseases At Birth (theguardian.com) 64
An anonymous reader quotes a report from The Guardian: Genomics England is to test whether sequencing babies' genomes at birth could help speed up the diagnosis of about 200 rare genetic diseases, and ensure faster access to treatment. The study, which will sequence the genomes of 100,000 babies over the next two years, will explore the cost-effectiveness of the approach, as well as how willing new parents are to accept it. Although researchers will only search babies' genomes for genetic conditions that surface during early childhood, and for which an effective treatment already exists, their sequences will be held on file. This could open the door to further tests that could identify untreatable adult onset conditions, or other genetically determined traits, in the future.
The study aims to recruit 100,000 newborn children to undergo voluntary whole genome sequencing over the next two years, to assess the feasibility and effectiveness of the technology – including whether it could save the NHS money by preventing serious illness. It will also explore how researchers might access an anonymized version of this database to study people as they grow older, and whether a person's genome might be used throughout their lives to inform future healthcare decisions. For instance, if someone develops cancer when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them. Dr Richard Scott, chief medical officer at Genomics England, said: "At the moment, the average time to diagnosis in a rare disease is about five years. This can be an extraordinary ordeal for families, and it also puts pressure on the health system. The question this program is responding to is: 'is there a way that we can get ahead of this?'"
"The bottom line here is about us taking a cautious approach, and developing a view jointly nationally about what the right approach is, and what the right safeguards are," he added.
The study aims to recruit 100,000 newborn children to undergo voluntary whole genome sequencing over the next two years, to assess the feasibility and effectiveness of the technology – including whether it could save the NHS money by preventing serious illness. It will also explore how researchers might access an anonymized version of this database to study people as they grow older, and whether a person's genome might be used throughout their lives to inform future healthcare decisions. For instance, if someone develops cancer when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them. Dr Richard Scott, chief medical officer at Genomics England, said: "At the moment, the average time to diagnosis in a rare disease is about five years. This can be an extraordinary ordeal for families, and it also puts pressure on the health system. The question this program is responding to is: 'is there a way that we can get ahead of this?'"
"The bottom line here is about us taking a cautious approach, and developing a view jointly nationally about what the right approach is, and what the right safeguards are," he added.
If you identify a disease at the embryonic stage (Score:1)
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With today's tech? It depends on what it is.
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you don't even know what you're mad about anymore
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Since, in China, the most commonly detected and abortion triggering disease has been being female, it's creating a profound shortage of girls in the current generation of China reaching sexual maturity. See https://www.scmp.com/news/chin... [scmp.com] .
The "inevitable gender and social equities of Communism" have created an unbalanced, mostly male population of young China, in desperate search of women and importing millions of sex slaves from surrounding nations to satisfy their needs for women. Isn't it amazing how
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All infants in the US are already screened after birth for serious health problems, normally using a blood test instead of DNA sequencing. The difference in the U.K. study will be the long-term correlation of the DNA with revealed health conditions.
Newborn screening is a public health service done in each U.S. state. Every newborn is tested for a group of health disorders that aren't otherwise found at birth. With a simple blood test, doctors can check for rare genetic, hormone-related, and metabolic conditions that can cause serious health problems. Newborn screening lets doctors diagnose babies quickly and start treatment as soon as possible.
https://kidshealth.org/en/pare... [kidshealth.org]
Also, the National Child Identification Program [childidprogram.com] offers kits for parents to save a child's photo, fingerprints, and DNA for later use in finding or identifying a child.
The U.K. study combines these two programs with the addition
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I was referring to amniocentesis based genetic testing, before a fetus is born. Whether at that would permit a legal abortion of, say, a Down's syndrome fetus or one with KlineFelter's syndrome would seem pretty obvious, though heart-wrenching for most families, though I'd expect those to show up with the most cursory genetic testing.
I have a genetic disease (Score:2)
I have a primary immune deficiency, hypogammaglobulenemia, more easily known as Common Variable Immune Deficiency. My body stopped producing antibodies, but it didn't fail until I was in my 40s. I had a full gene scan in '19 or '20, I don't know exactly when it was performed, but the analysis showed that my DNA itself was clean: none of the currently known gene sequences related to immune problems were damaged, but more are being identified on a regular basis. My health over the
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The purely epigenetic explanation sounds shady, because it is unlikely that without a defect in a methylation associated gene the epigenome of all your cells can have widespread changes -- at least not without some systemic trigger. Have you had your whole genome sequenced? A defect in a methylation gene can create widespread epigenetic defects. If you are curious, and have about $10K to spend, I would suggest the following .. get the epigenome of your immune cells sequenced. Also get a whole genome sequenc
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I started as a subject in a research program at Nat'l Institutes of Health, NIAID, back in '10, the year after I was diagnosed. They sent off blood to be gene sequenced. I never heard a word on what that study found from my DNA. A small number of years later, I get a call from another doctor at NIH who is doing another genetic study, more than doubling the number of genes being studie
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Within the first day or so, can you fix it?
First day?! That would be destructive testing. If you can wait a few days, you have "Pre-Implantation Genetic Testing".
They screen the embryos, and implant the good ones. It makes no sense to try and "cure" a blastocyst.
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I'd expect the abortions to be performed within a few days, even within 24 hours for stunnd parents.
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I'd expect the abortions to be performed within a few days,
Preimplantation abortion eh? That's an interesting use of the word.
I suppose the religious right in the US, the ones opposing abortion rights, are already saying IVF is the devil's work? :)
Think of all those embryos that go unused
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What makes you think this testing is only for implanted fetuses? I see nothing in the summary, or the cited article, that indicates such a claim. I'm anticipating testing to be done well before birth, to allow "people who can become pregnant" to have the options about continuing the pregnancy.
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What makes you think this testing is only for implanted fetuses? I see nothing in the summary, or the cited article, that indicates such a claim. I'm anticipating testing to be done well before birth, to allow "people who can become pregnant" to have the options about continuing the pregnancy.
Please read the thread before jumping in. Saloomy asked about "Within the first day or so" which I said can only be in-vitro.
Also, a foetus refers to more than two *months* after fertilisation.
And yeah, I hate woke language too, but try to keep it to one topic per sentence at least, so we can keep up?
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I was admittedly thinking about "what happens to fetuses with issues", and accidentally twisted the thread aside from the "first-day embryo" issue. I see your point about the language.
I'm especially thinking about later tests, especially tests in the third trimester. I expect those to cause real social and legal concerns.
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will be mandatory (Score:3)
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So are a lot of things, like getting a social security number, possibility of getting drafted during war, and going to school. Welcome to being born into a human colony.
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Getting and SSN is actually - NOT mandatory fun fact.
Now as a practical matter, as a parent you will be missing out on a lot of tax credits, and I guess you'll have to commit to a lot of other things like homeschooling.
As citizen without an SSN - you life will be very much more difficult. You will probably have great fun trying to get a bank account etc or simply wont be able to. If you get a job you'll get to pay withholds etc, you will ahve to get a tax-id and you WONT be eligible for you maximum benefit
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You people are afraid of everything.
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Not necessarily a bad thing. Children have a right to healthcare. It all really depends on how the data is handled.
Informed consent (Score:2)
I'm sure the babies will gladly volunteer of their own free will.
Re:Informed consent (Score:5, Informative)
I'm sure the babies will gladly volunteer of their own free will.
Parents already make plenty of decisions on behalf of their children that are a lot more significant than this.
My parents gave me my citizenship, assigned me to a deity, and cut off part of my dick, all without asking me for my input.
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At least one, maybe two of those things, really needs to stop.
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Remember in the early 2000's when college men were crying with outrage and accusing their parents of physical abuse over circumcision? What will they do now?
Seriously, why the different rules?
Wasn't there a related movie about this? (Score:4, Insightful)
Gattaca (1997) [imdb.com]
It will only be a matter of time where insurance wants a piece of the pie: "Sorry, you have a pre-existing condition. We don't cover that."
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It will only be a matter of time where insurance wants a piece of the pie: "Sorry, you have a pre-existing condition. We don't cover that."
Insurance companies are already banned from considering pre-existing conditions.
There are some exceptions. For instance, people with pre-existing nicotine addiction can be charged up to 50% more for health insurance.
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If you are a bad driver, high insurance premiums mean you can't afford to drive.
If you are unhealthy, high insurance premiums mean you can't afford to live.
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I think people with diabetes can't get the usual insurance as well.
At least thats my understanding.
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Gattaca (1997) [imdb.com]
It will only be a matter of time where insurance wants a piece of the pie: "Sorry, you have a pre-existing condition. We don't cover that."
The UK has a public health system. You pay your taxes, and everyone gets access to treatment. People have generally had pretty good experiences with the public health system - I mean, it's definitely got it's issues, but if the alternative is like the USA, where people reject ambulances in emergency situations because they can't afford them - then it's absolutely amazing. Possibly the best bit being that whether you are poor or moderately well off you get roughly the same treatment (there is private healthc
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yes at the time i said it was one of the best horror movies made.
i still think that is the case
Re:Wasn't there a related movie about this? (Score:5, Insightful)
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Looking about the societal and political landscape I'd hazard that's a minority activity.
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And in 15+ years (Score:2)
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If you got tested for Covid-19 at one of the free testing centers in the last couple years the authorities have your DNA on file now.
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They don't do a full genome read for a PCR test for Covid.
They don't even take a tissue sample and test your DNA for diseases.
They test for Covid genes.
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>"After doing something stupid you end up arrested, as the authorities have your DNA on file..."
Um no. Try again. There is a crime. They run all the DNA at the scene against EVERYONE'S DNA through the search. Without probable cause, EVERYONE is searched. Now you are a suspect and have to prove you are innocent.
Having ANY entity know your DNA (government or private) is a huge privacy problem. The only way I would support it is if it was anonymous AT THE START and *NOBODY* knows whose DNA it is excep
Do we really need to (Score:1)
...enable the propagation of broken genes into the future? Hidden horrors like phocomelia are with us precisely because we evolved mechanisms to suppress it... until the suppression fails for whatever reason...
Additionally, we really, *really*, don't need more humans.
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Some "broken genes" serve or served a purpose, such as those causing sickle cell anemia.
As a parent (Score:2)
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If I were OK with this as a parent (which I am), I would want the testing done during early pregnancy. This is possible with a some blood test. Why? Because there are a lot of genetic conditions that you don't want to live with (and/or don't want a kid to suffer through). Catch them early enough for an early abortion, and try again.
This is practically the case for down syndrome in the UK already. It's hugely uncontroversial because the UK doesn't have the religious component of the debate in the USA. I had a friend who's pregnancy got down to a 50/50 chance of downs before they did the amniotic fluid sampling, and all I could say to them is that I was just happy that we live in a country where nobody is telling them what they should or shouldn't do. I don't even know what I'd do in that situation, and I think it's great that it's just
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I don't even know what I'd do in that situation,
A lot of people say that when they have the screening. But when faced with the reality, they almost always do the same thing.
one word Gattaca (Score:1)
watch it and you will see what the world is becomeing
Whoa there Sparky! (Score:2)
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Because Nancy Pelosi, and a stack of modern social justice warriors begging for college money, don't want to admit she's whiter than Wonder Bread rather than having any minority bloodlines at all ? And approximately 3.4 million black single mothers don't want to admit who their baby daddies really are? They avoid paternity tests like they avoid work that pays taxes.
Cool story bro.
At what point can we prevent the gay kids? (Score:1)
Do you know what movie this is based on? (Score:2)
"ensure faster access to treatment" (Score:2)
Yay! (Score:2)
More fodder for Jerry Springer's "Who's yo daddy?" show.