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First blood test for dozens of hereditary cancers approved by FDA

insideprecisionmedicine.com

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

#41

Post by rflrob »

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 (especially in certain under-represented populations), the 23andme approach is going to miss a lot of important variants [1].

_disclaimer: I’m a former Invitae employee and still holding the bag on what used to be a lot of stock . All opinions are my own. _

[0] Rare on the population scale. To a good approximation each person has only 0, 1, or 2 copies of any given polymorphism.

[1] https://www.biospace.com/article/invitae-challenges-accuracy...

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

#42

Post by notQuiteEither »

capnkap wrote: post #35
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 authorization has nothing to do with insurance coverage. I know of a small manufacturer that's had an authorized product on the market for over 3 years, not a single insurance company will cover it. Insurance coverage is basically a waiting game between manufacturers and insurance companies. If you have enough capital to wait it out and schmooze executives, then you can get coverage. If not, good luck to you.

FDA approval makes it considerably easier, and in many cases possible at all, to get reimbursement for these tests. I work in the field and this is a constant hurdle to overcome.

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

#43

Post by jameshart »

nsxwolf wrote: post #12
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/

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.

Or if it turns out you lack the genetic predisposing factors, risk-homeostasis your way into justifying smoking and eating badly and exercising less.

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

#44

Post by throwitawayfam »

nsxwolf wrote: post #12
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/

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...

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

#45

Post by biotinker »

notQuiteEither wrote: post #38
margalabargala wrote: post #27

Earlier quoted context omitted.

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…

As someone in the field, I can say with certainty to expect FDA approved liquid biopsy tests (for somatic variants) to start appearing on market in the next year, if not sooner. I'll also point out that detecting germline variants (which is what Invitae is doing) is considerably easier than somatic variants, which is what tests ala Grail and PGDx do. Of course this doesn't discount the work of Invitae, absolutely sou…

Yeah I'm willing to bet there are more than one liquid biopsy tests submitted and likely to get approved.

I worked at PGDx for ~5 years and wrote an appreciable chunk of their bioinformatics pipeline, though I moved on to a different industry back in 2020 and am now out of date by that much. Though if you had asked me then, I would have bet that the first liquid biopsy test would be out by now; when I left was a short while after they had the first solid tumor somatic test FDA-approved.

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

#46

Post by PlunderBunny »

nsxwolf wrote: post #12
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/

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.

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

#50

Post by ck_one »

tikkun wrote: post #47

Which preventative health tests are most worth doing? I'm in my early 30s and willing to pay out of pocket if something is good. E.g. ezra, prenuvo, q bio, Grail, Freenome, other regular blood testing, and then things like this.

I am in the same situation. Would love for somebody with more knowledge to jump in and give some hints.
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