[HN Gopher] First Blood Test for Dozens of Hereditary Cancers Ap...
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First Blood Test for Dozens of Hereditary Cancers Approved by FDA
Author : birriel
Score : 136 points
Date : 2023-10-02 21:02 UTC (1 hours ago)
(HTM) web link (www.insideprecisionmedicine.com)
(TXT) w3m dump (www.insideprecisionmedicine.com)
| reaperman wrote:
| 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/
| nsxwolf wrote:
| 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.
| cmcaleer wrote:
| It's actionable by your insurance provider.
| kulahan wrote:
| It explicitly is not, thanks to the GINA act.
| evangow wrote:
| If you know you are at risk for specific cancers, then you
| would likely get tested more regularly and could potentially
| catch them at an earlier stage when they're usually more
| treatable.
|
| I haven't looking into this specifically, so I have no idea
| if that works for the types of cancers this tests for. My
| point is applies to testing just generally speaking
| rmbyrro wrote:
| In at least a few of those cancers, there can be other
| applicable lifestyle changes.
|
| Also, patient can get an ultrasound exam (or other
| applicable) more frequently for an organ that's under a
| higher risk.
| jameshart wrote:
| Or if it turns out you lack the genetic predisposing factors,
| risk-homeostasis your way into justifying smoking and eating
| badly and exercising less.
| throwitawayfam wrote:
| 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...
| PlunderBunny wrote:
| I believe that some woman with a hereditary risk of breast
| cancer voluntarily undergo mastectomies even prior to cancer
| being detected.
| margalabargala wrote:
| 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 tech.
|
| If Grail could get their test FDA-approved, they would have
| done so.
| notQuiteEither wrote:
| 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
| sound tech behind it.
| biotinker wrote:
| 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.
| extraduder_ire wrote:
| For anyone not reading the article, it's done via "next-
| generation sequencing" of DNA in the blood.
| copperx wrote:
| 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?
| dekhn wrote:
| There's a big difference between what 23&Me includes in their
| technology and reports compared to solutions that are
| production grade medical tests. That said, 23&Me does tout
| their results as being medically relevant
| (https://www.23andme.com/brca/)
|
| (for a while, only Myriad could do any tests with brca1/2
| because they had a patent on the literal gene sequence. it went
| to the supreme court and the court said no, you cannot patent
| human gene sequences)
| rflrob wrote:
| 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...
| [deleted]
| joysofpi wrote:
| they use different approaches. 23andme even has a short writeup
| on this: https://customercare.23andme.com/hc/en-
| us/articles/202904600...
| jncfhnb wrote:
| I did one of their tests for some IVF stuff. Frankly if you can
| do this it seems like it's almost unethical not to check if you
| and your partner don't have some sort of horrible incompatibility
| that you should try to work around with IVF.
| elamje wrote:
| The Galleri test by Grail detects 40+ types of cancer, some as
| early as stage 1, with a blood test.
|
| It's about $1000 per test.
| technocratius wrote:
| My 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...
| marc__1 wrote:
| 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-...
| carbocation wrote:
| GINA should protect you against this (for health insurance) in
| the US but it does not necessarily extend to other forms of
| insurance.
| schemescape wrote:
| More info on the situation in the US: https://medlineplus.gov
| /genetics/understanding/dtcgenetictes...
| kulahan wrote:
| 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.
| ethbr1 wrote:
| 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?
| autoexec wrote:
| I wonder if this could keep you from even being hired for a
| job. Given two otherwise equal candidates I can imagine some
| companies may wish to choose the one which doesn't have a risk
| for a major cancer.
| dragonwriter wrote:
| It could be, though in the US this type of thing has been
| anticipated, hence the Genetic Information Non-Discrimination
| Act of 2008.
| ethbr1 wrote:
| And critically, that's banned at common points of use,
| rather than collection.
|
| Which I think is more important given how leaky a sieve
| prohibiting the multitudinous hydra that collection is.
|
| Although I wouldn't be sad to see strict laws around
| genetic info storage too. Toxic waste, etc.
| loeg wrote:
| 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.)
| chimeracoder wrote:
| > 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, 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.
|
| Furthermore, the ACA has seen a number of challenges over the
| last few years - most recently, the requirement to cover
| preventive care at no cost to the patient was struck down a
| few months ago. There's plenty of reason to suspect that this
| provision will be challenged in the future as well, and could
| easily be overturned.
| [deleted]
| jseliger wrote:
| 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://guardanthealth.com/products/tests-for-
| patients-with-... approved seems important from an insurance
| standpoint.
| capnkap wrote:
| 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.
| ethanbond wrote:
| FDA authorization definitely _does_ have something to do with
| insurance coverage, it just isn't a necessary nor sufficient
| condition.
| notQuiteEither wrote:
| 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.
| satvikpendem wrote:
| I suppose then that Theranos was never really viable based on the
| technology back then, as this seems to use "next-generation
| sequencing" tech.
| inglor_cz wrote:
| 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.
| tptacek wrote:
| It looks like Invitae is a full blood draw, done with a
| phlebotomist, not a microfluidic pin-prick invention.
| ourmandave wrote:
| You have to play the hand your dealt, so to speak.
|
| But knowing your odds is good.
|
| Better is when we can cure cancers so you get to draw new cards.
| lepus wrote:
| Invitae has done some good work scaling up genetic testing and
| increasing its accessibility, but tried to play a risky high
| growth game and paid the price when the economic landscape
| started to shift. Hopefully their efforts aren't lost if the
| company doesn't survive in its current form long-term.
| NKosmatos wrote:
| What's the cost of this test? We're going to see many DNA
| sequencing tests being available in the near future, but I hope
| they're not going to be expensive so that diagnosis and
| prevention can be available to all.
| renewiltord wrote:
| I have full genome sequence. Are the variants present somewhere I
| can download so I can match it up against my FASTQ?
| spullara wrote:
| This isn't a test for hereditary cancers. It is test for the
| gene's that indicate you have an increased risk for hereditary
| cancers. It matters as there are actual blood tests for cancer
| available now.
| user3939382 wrote:
| You thought dating was hard now...
| killingtime74 wrote:
| If interested, there's already DNA Genetic testing that screens
| for many conditions (more? Not sure about overlap). No blood draw
| necessary, only saliva. They also screen for partners who are
| hoping to conceive. Contact a Genetic Counselor.
| tikkun wrote:
| 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.
| [deleted]
| ck_one wrote:
| I am in the same situation. Would love for somebody with more
| knowledge to jump in and give some hints.
| ortusdux wrote:
| Direct link to FDA announcement: https://www.fda.gov/news-
| events/press-announcements/fda-gran...
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