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Hunting Disease Origins By Whole-Genome Sequencing
ChocSnorfler writes "James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, has been searching for the genetic cause of his disease for more than 25 years. Late last year, he finally found it — by sequencing his entire genome. While a number of human genome sequences have been published to date, Lupski's research is the first to show how whole-genome sequencing can be used to identify the genetic cause of an individual's disease."
With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation.
Plus, even then is there much we -can- do if we figure out something is genetic?
Taxation is legalized theft, no more, no less.
Your genome has a lot of differences from the reference genome. They narrowed down the differences based on a lot of previous work discovering genes linked to the disorder.
Only then were they able to zero in on precisely what gene in his specific genome caused the problem, and confirm it by testing other family members.
What's this Hunting disease they talk about?
To do list for Windows
Yeah, itd suck to have drugs individually tailored to your genes. They'd work like, way better. Plus you could get information on maldies that you might come across. Hell you may be able to work pre-emptively to avoid getting them.
Honestly there are tons of reasons why this is a GOOD THING.
People in the sequencing biz talk about the "thousand dollar genome" as kind of the magic number, and the consensus is that we can expect to get there in five years or so. At that point, yes, it will be a routine part of everyone's medical record. As for discrimination, the best we can do is guard against it; the Genetic Information Nondiscrimination Act (GINA) is a very good start. There is no way in hell that we are going to turn our backs on the enormous medical potential of cheap, nearly universal sequencing because of fears cobbled together -- as most anti-genetics rants seem to be -- out of massive ignorance and half-remembered ideas picked up from Frankenstein, Jurassic Park, and Gattaca.
The correlation between ignorance of statistics and using "correlation is not causation" as an argument is close to 1.
That depends.
If the Democrats manage to pass health care reform, there will no longer be any "pre-existing conditions" so the question is moot.
If the Republicans manage to stop health care reform, it'll take 10 minutes.
(Actually there's a law against using genetic tests to set insurance rates, but I wanted to get a little snark in)
I have two distinctly different mental illnesses, a neurological condition that affects my brain, and a circadian rhythm disorder that more or less makes it impossible for me to hold any kind of nine-to-five job.
I have Bipolar-Type Schizoaffective Disorder, which is just like being Schizophrenic and Manic Depressive at the same time. That was diagnosed in 1985. I also have Obsessive-Compulsive Personality Disorder. That's quite a different thing than the more well-known Obsessive Compulsive Disorder (OCPD vs OCD). I was told of the diagnosis in 1994 but I have reason to believe the diagnosis was made long before, but my therapist chose to wait many years to give me the bad news.
The neurological condition is Attention Deficit Hyperactivity Disorder. I got that diagnosis in 2008. ADHD isn't taken very seriously by a lot of people, with some believing that it's not a real illness. It's no joking matter: I got the diagnosis in a psychiatric hospital where I committed myself rather than go off the Golden Gate Bridge as a result of my profound inability to focus on my work. I had been begging all manner of medical and mental health practitioners for help with it for ten years, but none of them had the first clue as to how to help me. It was only the shrink in 2008 who was able to make a real difference.
My circadian rhythm disorder is Delayed Sleep Phase Syndrome. It is the main reason I am a software engineer - my degree is in Physics, and not Computer Science. When I noticed that many of my programmer friends worked at night, I figured that being a coder would be the only way I would ever be able to hold a real job. All of my life I have slept during the day and stayed up all night. My mother said I was this way even when I was a newborn in the hospital.
My reason for wanting my genome sequenced is not at all to help myself, but to help others with my conditions. Besides understanding my various illnesses, I also want the medical community to figure out why I have done so well despite what would normally be a profound disability:
It is very, very rare for someone with Schizoaffective Disorder to live independently, let alone hold any kind of real job. I have a degree in Physics and have been a coder for twenty-two years. But most who share my diagnosis have to live off the disability check, be cared for by their families, spend their lives in institutions, or survive somehow on the streets, tormented by despair and madness.
There was a time when I was so hopelessly in the grip of my delusions that when God Almighty Himself sent me visions in the sky, I would photograph them. But when the pictures came back from the developer without my visions in them, I figured it was due to my inexperience as a photographer and not because those hallucinations were the products of my own demented imagination.
My hope is that by having my genome sequenced, I might not only ease the sufferring of others, but prevent a lot of otherwise needless suicides.
I am absolutely serious: mdcrawford at gmail dot com
Request your free CD of my piano music.
I'm getting my PhD in a statistical genetics program.
The quality of "newly discovered genes" in the literature is very, very poor. Any scientific "discovery" should be replicated by other researchers, but that is not being done. Negative results rarely get published. Since we have tens of thousands of genes, one can find any number of genes that have a "significant association" with a given condition.
In reality, many diseases are known to have multiple origins. The same disease could be caused by entirely different genes in different people. And that's assuming it is a genetic condition, as opposed to other causes. Researchers have spent decades looking for genes that cause diabetes, but there is increasing evidence that diabetes is really caused by viral infections. In particular, type I diabetes was assumed to be genetic, but there is a fairly large amount of evidence that it is caused by viruses such as Coxsackie B4. The incidence of type 1 diabetes is increasing throughout the world, which cannot be explained by genetics.
To dispel a couple of other myths, genetic diseases are not always recessive. Many of them are dominant. Also, "bad" genes do not always get selected out of the gene pool; diseases that cause problems later in life, such as Alzheimer's, heart disease, Huntington's, happen after reproductive age and so there is no selection pressure.