I have full genome sequence. Are the variants present somewhere I can download so I can match it up against my FASTQ?
I never considered this as I have my full genome too. Please update the thread if you receive a response to this!
First blood test for dozens of hereditary cancers approved by FDA
61–70 of 127 posts
Re: First blood test for dozens of hereditary cancers approved by FDA
#62Earlier quoted context omitted.
It shouldn't be a problem in the US. The ACA requires insurers to insure people with pre-existing conditions. (And GINA is also relevant here, as sibling mentioned. I was struggling to remember its name.)
> It shouldn't be a problem in the US. The ACA requires insurers to insure people with pre-existing conditions. The ACA requires insurers to cover people under the age of 65 with pre-existing conditions and, more importantly, requires them to provide coverage at the same prices regardless of those conditions (they can only set price using a few pieces of information: age, zip code, smoking status, etc.). However, the…
> However, there are a lot of ways that insurers already skirt that second part, such as offering "discounts" to patients for certain elections which are strongly negatively correlated with various pre-existing conditions.
Can you give any examples?
Re: First blood test for dozens of hereditary cancers approved by FDA
#63Invitae is doing the lord’s work when it comes to commercializing high quality genetic diagnostic tests and offering them directly to consumers at reasonable prices. We used them for prenatal screening. They offered the circulating DNA test - which is only covered for geriatric pregnancies - for a reasonable price. I wish the payers would cover these so they could be compensated more for what they do, but the US healthcare system is bonkers.
Some of the problem with these types of genetic tests - especially for stuff like PGx - is that physicians have not integrated them into their practice / workflows, so even when they get actionable info from one of these tests they don’t really know what to do with it.
Re: First blood test for dozens of hereditary cancers approved by FDA
#64My primary concern with these are: what will it mean in a possible future to know your risk profile, and your ability to get/maintain health insurance, also without having to pay premiums. I live in the Netherlands, so probably not too much, but US could be different, and who knows what the future holds. Anyway, this makes me less/not want to take them...
In the USA there is The Genetic Information Nondiscrimination Act from 2008 that bars insurance discrimination based on your genes. I assume this will become a landmark law in the next 50 years as society becomes familiarized with routine blood (I mean gene) tests to drive preventive care to the next level https://www.genome.gov/about-genomics/policy-issues/Genetic-...
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Re: First blood test for dozens of hereditary cancers approved by FDA
#65I hope this is a first of many and that genetic testing of more conditions gets approved soon.
I’m currently paying for a test suite during my IVF process that will also test for things like ADHD risk, diabetes risk, and low IQ risk[1]. I think soon it will be basically immoral to not do these type of screenings and it should be accelerated.
[1] First learned about this stuff here https://www.lesswrong.com/posts/yT22RcWrxZcXyGjsA/how-to-hav...
Re: First blood test for dozens of hereditary cancers approved by FDA
#66I hope this is a first of many and that genetic testing of more conditions gets approved soon. I’m currently paying for a test suite during my IVF process that will also test for things like ADHD risk, diabetes risk, and low IQ risk[1]. I think soon it will be basically immoral to not do these type of screenings and it should be accelerated. [1] First learned about this stuff here https://www.lesswrong.com/posts/yT22…
What are the moral implications of not knowing your unborn child has a risk of ADHD or diabetes? I am not following your reasoning.
Re: First blood test for dozens of hereditary cancers approved by FDA
#67I suppose then that Theranos was never really viable based on the technology back then, as this seems to use "next-generation sequencing" tech.
What Theranos did was like promising a ticket to the Moon for 50 dollars one way. No one doubts that you can fly to the Moon for 50 billion dollars. Perhaps, in the future, it will be feasible to fly there for 5 million dollars. But 50 dollars is beyond the realms of possibility.
I have serious doubts that any individual or company, starting from scratch not having previously built rockets, gets to the moon on $50b, especially with any sort of safety margin built in.
Re: First blood test for dozens of hereditary cancers approved by FDA
#68I hope this is a first of many and that genetic testing of more conditions gets approved soon. I’m currently paying for a test suite during my IVF process that will also test for things like ADHD risk, diabetes risk, and low IQ risk[1]. I think soon it will be basically immoral to not do these type of screenings and it should be accelerated. [1] First learned about this stuff here https://www.lesswrong.com/posts/yT22…
What are the moral implications of not knowing your unborn child has a risk of ADHD or diabetes? I am not following your reasoning.
In a scenario where embryo selection is possible, it does seem like new moral/ethical considerations arise if you have the ability to choose an embryo that is at a lower risk for long term issues.
That said, other questions arise like: what happens to the broader population when we start manually selecting for certain traits? It seems like unintended consequences could be lurking as well.
Re: First blood test for dozens of hereditary cancers approved by FDA
#69Earlier quoted context omitted.
In what way is any of that actionable? Are there specific recommendations besides "eat right, exercise, don't smoke"? Sounds like something that could just induce anxiety.
The comment you've replied to is about the Galleri test by Grail. It tests for early _detection_ of cancer, not likelihood of cancer. Meaning, you _have_ cancer. Knowing you have cancer (hopefully early) is actionable...
You would think so, but when I brought the information pamphlet to my GP (who does blood work in office and took 2 vials for other tests at the same visit) and told her I am happy to pay the $1k out of pocket, she took a couple of weeks to research it, but couldn't find a way to prescribe it in the hospital system. Since it is a prestigious research hospital, she even found clinical trials ongoing and tried to get me included but I was too young for any of their subject groups.
2 years later, I still haven't found a way to take this test and have it's results be meaningful to any actionable health outcomes.
I believe the only thing I can do is find a sketchy online doctor willing to prescribe it, and then roll the dice on whether any related testing or care based upon the results would be covered by insurance (my doctors biggest concern)
Re: First blood test for dozens of hereditary cancers approved by FDA
#70Earlier quoted context omitted.
In what way is any of that actionable? Are there specific recommendations besides "eat right, exercise, don't smoke"? Sounds like something that could just induce anxiety.
I believe that some woman with a hereditary risk of breast cancer voluntarily undergo mastectomies even prior to cancer being detected.
Angelina Jolie famously did just that, replacing them with implants, after a positive gene test.
She also started having yearly tests for ovarian cancer, and only a few years later one of those tested positive, so she had one ovary removed.
Personally, I used to get a yearly colonoscopy after a tumour and a positive gene test, but these days I no longer have a colon ...