Hacker News Board Hacker News, browsed like a classic message board
Live data from Hacker News

First blood test for dozens of hereditary cancers approved by FDA

insideprecisionmedicine.com

Post reply on HN
Print view View original

91–100 of 127 posts

Re: First blood test for dozens of hereditary cancers approved by FDA

#91

Post by justrealist »

mpoon wrote: post #65

I 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…

If you're using GP, they don't do monogenic screening like the hereditary cancers described here (it's an assay that's good for GRS but can't do monogenics). Orchid does monogenic screening though[1], because it's WGS, you can get in touch.

[1] https://guides.orchidhealth.com/post/embryo-screening-and-he...

Re: First blood test for dozens of hereditary cancers approved by FDA

#92

Post by justrealist »

margalabargala wrote: post #27
reaperman wrote: post #3

For clarification, it tests for 47 genes which are associated with increased risk of cancer. It doesn’t help tell you whether or not you have cancer, in contrast to blood tests like Galleri, which can do that. 0: https://www.galleri.com/

There are plenty of blood tests out there that can potentially let you know whether you have cancer. Here's another one: https://www.personalgenome.com/products/elio-plasma-resolve The thing all of these have in common is that they aren't FDA-approved, they're just CLIA assays. Invitae's test in the original article is FDA-approved, which is no small feat. That's not easy to do and lends a lot of credence to their te…

Reading the FDA notice, a lot of them will probably get FDA approval soon given this accelerated pathway. Looks like they just want 99% sensitivity and < .01% false positives on the targeted genes/regions, and as long as you can show your WGS coverage you don't need to do trials or whatever.

Re: First blood test for dozens of hereditary cancers approved by FDA

#93

Post by b112 »

rapatel0 wrote: post #56
jseliger wrote: post #6

This is great! I got the Invitae test (due to this: https://jakeseliger.com/2023/07/22/i-am-dying-of-squamous-ce... ), and, from what I understand, FDA approval means it'll be covered by insurance. I've been told by oncologists that blood testing is presently the wild west of cancer profiling. Getting blood testing like CARIS: https://www.carislifesciences.com/products-and-services/mole... or Guardant360: https://gua…

FDA approval is but the first step to actual usage by clinicians and reimbursement by insurance companies. You are probably still 2 years away (maybe more) from being able to ask your doctor to prescribe it and getting insurance to reimburse. However, they are now legally allowed to tell you about it and theoretically you can pay for it yourself

It may seem great, but what happens if you hit these theoretical markers?

No insurance? Higher premiums? No treatment, for a prior "known condition"?

Required test prior to getting insurance? Renewing?

Re: First blood test for dozens of hereditary cancers approved by FDA

#94

Post by justrealist »

cma wrote: post #85
astrange wrote: post #83

Earlier quoted context omitted.

If this is a DNA test why does it need to use blood instead of saliva or cheek scraping?

> Since WGS technology has no PCR enrichment of targeted regions, non-human contamination has a higher impact on overall sample quality metrics and can cause higher sample failure rates in Saliva and Buccal specimens. Therefore, blood is the preferred specimen for the Invitae Exome, when available.

Saliva is fine if quality is good, but it's incredibly hard to get people to follow protocol (no eating or drinking for 30 minutes, fill up to the line, shake the tube...)

Blood you can't really mess up because a phlebotomist handles the protocol.

Re: First blood test for dozens of hereditary cancers approved by FDA

#95

Post by rlabrecque »

ethbr1 wrote: post #40
kulahan wrote: post #30

Earlier quoted context omitted.

GINA needs to be much, much stronger for me to feel safe. There's a lot of potential money to be made from genetic information.

There's a lot of money to be made from a lot of enriched genetic information. Is there a lot of money to be made from one individual's genetic information?

yes.

Re: First blood test for dozens of hereditary cancers approved by FDA

#96

Post by Wohlf »

b112 wrote: post #93
rapatel0 wrote: post #56

Earlier quoted context omitted.

FDA approval is but the first step to actual usage by clinicians and reimbursement by insurance companies. You are probably still 2 years away (maybe more) from being able to ask your doctor to prescribe it and getting insurance to reimburse. However, they are now legally allowed to tell you about it and theoretically you can pay for it yourself

It may seem great, but what happens if you hit these theoretical markers? No insurance? Higher premiums? No treatment, for a prior "known condition"? Required test prior to getting insurance? Renewing?

You're really out of the loop, Obamacare eliminated excluding due to prior conditions and differing premiums for anything except smoking. In exchange we all got higher premiums, higher deductibles, and worse coverage across the board.

Re: First blood test for dozens of hereditary cancers approved by FDA

#97

Post by Wohlf »

chimeracoder wrote: post #34
loeg wrote: post #23

Earlier 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…

They aren't skirting anything, discounts were explicitly written in to the ACA to encourage behaviors the government and insurance companies both wanted.

Re: First blood test for dozens of hereditary cancers approved by FDA

#98

Post by AmericanChopper »

pfisherman wrote: post #63

Invitae 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 heal…

What use cases exist for prenatal genetic testing, other than eugenics?

Re: First blood test for dozens of hereditary cancers approved by FDA

#99

Post by eps »

rflrob wrote: post #41
copperx wrote: post #5

While this is fantastic, aren't these genes identified by 23andme other low-cost DNA tests? I'm sure they do the BRCA1 and BRCA2 variants. Or are there many more variants in this test?

23andMe works by checking ~1M sites along the genome, and using known correlations with pathogenic variants. This Invitae test actually sequences the (coding portion plus a bit of) the genes involved, and can detect rare[0] mutations. Additionally, Invitae puts a ton of effort into determining whether any particular variant (of which you certainly have very many) is benign or pathogenic. Invitae has argued that (espe…

Unrelated - the link in your profile now redirects to the scam/malware site.
Post reply on HN