Whole Genome Sequencing Could Save NHS Millions of Pounds, Study Suggests (theguardian.com) 26
The use of whole genome sequencing could save the NHS millions of pounds, a study suggests, after it found a quarter of people with rare illnesses received a diagnosis for their condition through the technology. From a report: In some cases, the findings have provided reassurance for families that they have not passed their condition on to their children, while in others they have inspired life-changing treatments. Though individually uncommon, rare inherited diseases affect about 6% of the UK population, or roughly 3 million people. Traditionally, geneticists searched for the abnormalities underpinning such conditions by looking at the person's chromosomes through a microscope, but this is no good at spotting tiny, but often highly significant changes, such as single letter substitutions in the genetic code. Because of this, "many of the people who have a rare disease either live very long diagnostic odysseys to get an answer for why they are like they are, or they do not get an answer in their entire lifetime," said Prof Sir Mark Caulfield at Queen Mary University of London (QMUL), a former chief scientist at Genomics England. In 2013, the UK government launched the 100,000 Genomes Project to investigate whether WGS -- which involves reading through the entire 3bn pairs of letters in the human genome -- could help doctors better understand the cause of patients' symptoms, and identify other family members who may be at risk. Five years later, NHS England became the first national health care system in the world to offer WGS to people with undiagnosed rare diseases and cancer as part of routine care.
Yup (Score:5, Insightful)
I am in favor of people and their chosen doctor knowing their genomic profile, but I do not trust a government or other entities with access to that. Private entities maybe, but hell fuck no, not the government. It could be used for all kinds of manipulation. Anyway, all this will be moot in the coming decades since people will be able to edit DNA. I mean, editing on a large scale may take 100 years, but it will happen. Then, whoever is alive 150 years from now may be able to get to immortality â" if it was not for humans capacity to war.
Re:Yup (Score:4, Insightful)
I am in favor of people and their chosen doctor knowing their genomic profile, but I do not trust a government or other entities with access to that. Private entities maybe, but hell fuck no, not the government. It could be used for all kinds of manipulation. Anyway, all this will be moot in the coming decades since people will be able to edit DNA. I mean, editing on a large scale may take 100 years, but it will happen. Then, whoever is alive 150 years from now may be able to get to immortality â" if it was not for humans capacity to war.
I did not do a DNA test from 23 and me because they are owned by big pharma. Once our DNA is known, we lose the benefits of health insurance. If your genes indicate a likelihood of cancer, your premiums go so high you can't afford them. If your genes indicate you could expect a long and healthy life, you very well may decide to cut back on the level of your coverage. Think back to the movie Gataca,
Re: Yup (Score:5, Informative)
Since 2008, it has been illegal to base insurance on genetics. The federal law is called the Genetic Information Nondiscrimination Act Reference: https://en.m.wikipedia.org/wik... [wikipedia.org] It is also specifically banned in the Affordable Healthcare Act, the ADA, and in the statutes of many states as well. The ACA further provides additional protections for patients with genetic diseases by establishing that certain health insurers may only vary premiums based on a few specified factors such as age or geographic area, thereby prohibiting the adjustment of premiums because of medical conditions. There might be some companies trying to play a loophole game, but if such discrimination can be shown I am pretty sure you would win any lawsuit.
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Since 2008, it has been illegal to base insurance on genetics.
First of all, the insurance industry - health insurance, life insurance, auto insurance, hair insurance, whatever-the-hell-you-need-to-insure insurance - is all about mitigation of risk. They do this with government endorsed forms of discrimination. You can count on them finding ways around any laws that were supposedly designed to prevent from from doing this.
Second, the insurance industry owns the federal government. Look at congress. Look at both sides of the aisle, then look at who makes the larg
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Nobody would sue alone but in a class action, but if they are doing genetic discrimination that would be violating the law, easily found out, and makes for really bad publicity. I mean, do you know a company that does it and is getting away with it? I am sure there's a long list of trial lawyers willing to sue on that. I mean I am sure all those mesothelioma lawyers would love to do something different.
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Nobody would sue alone but in a class action, but if they are doing genetic discrimination that would be violating the law, easily found out, and makes for really bad publicity.
It wouldn't be revealed to the public. The armies of lawyers would all sign on to confidentiality agreements and the documents would be closed for eternity. The patients would likely die before they would see any benefit from the legal process.
I mean, do you know a company that does it and is getting away with it?
Only basically every insurance company that has a vowel, consonant, or number in their name.
I was diagnosed with a genetic condition over 20 years ago. The basic treatment - which I have preferred over the more aggressive and invasive option - is pretty strai
Re:Yup (Score:4, Insightful)
Re: Yup (Score:2)
I have never heard of anyone losing their freedom due to a corporation. I never heard of Microsoft arresting anyone. I never knew Facebook has an army. Anything really bad that happens, usually happens by the force of government. There are exceptions of course like the Mafia, but most mainstream companies have no squad to send after anyone. The worst they can do is rip you off, but they do not forcefully take a fat percentage of your income as protection money.
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Re: Yup (Score:2)
You could quit your job and be free, can you not? How is that the same as being imprisoned again?
Celiac (Score:3)
So, I've struggled with digestive issues my entire life, but in the past 10 years things were getting ridiculously bad. In fact I ended up having surgery for a related issue. Unrelated to this I decided to send my DNA to 23andMe because my family history has just about everything in it (Cancer, Parkinsons, Heart Disease, Alzheimer's, etc.) and I wanted to prepare myself for what I may have to deal with in an eyes-wide-open kind of way. More data == better.
Everything came back clear. No genetic markers for any of the major diseases they test for. Fast forward about a year and they've added some additional tests and surprise surprise I have one of the two genetic markers for celiac disease. I cut gluten out of my diet and BOOM, it's like living a normal life like a normal human. Recovery has taken a long time, but I've actually started to gain some weight and am able to start working out and building some muscle to help me manage through old age.
Celiac disease is really hard to diagnose because wheat is in FUCKING EVERYTHING! Worth every penny for the test. I understand that if you live in a country where you can be denied health insurance why this is controversial, but like TFA, I'm not in one of those countries.
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Health Insurance? Oh yeah, I heard about that. Luckily, we have the NHS here in the UK. There are similar systems in all developed economies apart from the USA.
My wife is Brazilian (as are our children). Brazil also has free health care, but you can wait for months to get an appointment. There's a running joke about people dying waiting to be seen in the ER (there are documented cases). Anyone who can afford it has private insurance. I paid R$1,000 for my son to see a private doctor (living in the US, I don't have an insurance accepted in Brazil) in order to get a prescription there, and we were seen within 30 minutes. My insurance company reimbursed me once I was
Re: (Score:2)
So, I've struggled with digestive issues my entire life, but in the past 10 years things were getting ridiculously bad. In fact I ended up having surgery for a related issue. Unrelated to this I decided to send my DNA to 23andMe because my family history has just about everything in it (Cancer, Parkinsons, Heart Disease, Alzheimer's, etc.) and I wanted to prepare myself for what I may have to deal with in an eyes-wide-open kind of way. More data == better.
Everything came back clear. No genetic markers for any of the major diseases they test for. Fast forward about a year and they've added some additional tests and surprise surprise I have one of the two genetic markers for celiac disease. I cut gluten out of my diet and BOOM, it's like living a normal life like a normal human. Recovery has taken a long time, but I've actually started to gain some weight and am able to start working out and building some muscle to help me manage through old age.
Celiac disease is really hard to diagnose because wheat is in FUCKING EVERYTHING! Worth every penny for the test. I understand that if you live in a country where you can be denied health insurance why this is controversial, but like TFA, I'm not in one of those countries.
Congratulations, you've sold your DNA to big Pharma! 23andMe is owned by a pharmaceutical company, and the CEO has recently announced plans to monetize access to all this DNA in developing new drugs.
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Congratulations, you've sold your DNA to big Pharma! 23andMe is owned by a pharmaceutical company, and the CEO has recently announced plans to monetize access to all this DNA in developing new drugs.
This is a bad thing why? I get the whole: "they make money from it so | should get a cut" but other than that I don't see big pharma having access to this data being an inherently bad thing. We want them to develop drugs that work for us, this helps. Now insurance companies? Yes that's a problem if they use it to raise premiums (esp if they visible traits in linkage disequilibrium with deleterious traits as a proxy for risk).
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I seem to remember this being mentioned in years-gone-by on
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You cannot copyright DNA sequences basically because you didn't author them. There was a rush to patent sequences but essentially the public genome projects like the Human Genome project pretty much killed it by publishing the sequence and annotating the genes (my institute the Sanger played a proud part in that). There still are patents (and nasty contracts) in the agriculture field but that's another story.
Re: Celiac (Score:2)
I am pretty sure he rather not suffer from Celiac disease over having to click through some ads. What exactly can they do to him? Do you have any clue what living with, or rather dying from, undiagnosed Celiac disease is like? Since when do we disparage people for their choices? Since when should we decide for others what they wish to sell?
Health insurance soon won't cover these conditions (Score:2)
Coherency (Score:2)
You seem to be conflating life insurance and health insurance in your argument. Which is your argument about? Given Canada has universal government managed health insurance [canada.ca] it seems unlikely to be health insurance? Cite your sources?
What is the state of this? (Score:2)
How much is millions of pounds? (Score:2)
"Whole Genome Sequencing Could Save NHS Millions of Pounds".
British health care works uniquely in units of 350 million pounds per week. It's so ingrained we put it on the side of double-decker buses.
So how many weeks' costs will it save?
and not OK for google to tailor email ? (Score:2)
But when government wants to find every nucleotide base in your DNA that's innovative and ground breaking ?
This is a first degree privacy double standard.