First blood test for dozens of hereditary cancers approved by FDA • Hacker News Board

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

#71

Post by mpoon » Mon, Oct 02, 2023, 11:53 PM UTC

prometheus76 wrote: post #66

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…

What are the moral implications of not knowing your unborn child has a risk of ADHD or diabetes? I am not following your reasoning.

Yeah sorry didn’t make it clear - specifically in the IVF process when you get to the decision of which embryo to implant, it’ll be immoral not to screen them all and choose the one with lowest health risks.

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

#72

Post by dekhn » Tue, Oct 03, 2023, 12:00 AM UTC

renewiltord wrote: post #51

I have full genome sequence. Are the variants present somewhere I can download so I can match it up against my FASTQ?

ClinVar will have many variants associated with disease, but not in a way that a typical layperson would be able to interpret.

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

#73

Post by wpnx » Tue, Oct 03, 2023, 12:03 AM UTC

I wonder what the advantage is of a blood based test over existing saliva based hereditary cancer screens (that do genome sequencing instead of 23andme type array testing).

e.g: Color genomics https://www.color.com/cancer

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

#74

Post by renewiltord » Tue, Oct 03, 2023, 12:07 AM UTC

dekhn wrote: post #72

renewiltord wrote: post #51

I have full genome sequence. Are the variants present somewhere I can download so I can match it up against my FASTQ?

ClinVar will have many variants associated with disease, but not in a way that a typical layperson would be able to interpret.

Can you give me some keywords to get started with this if you are acquainted with the field? I can try to work my way to something if it's just software that needs to be written and textbooks to read.

Would be appreciative. I will try on my own as well.

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

#75

Post by EvanAnderson » Tue, Oct 03, 2023, 12:10 AM UTC

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…

I agree with you re: the ACA hanging around unscathed. That seems like a bad gamble. Striking it down completely seems politically unlikely, but then there's Roe v. Wade.

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

#76

Post by ellisv » Tue, Oct 03, 2023, 12:13 AM UTC

huytersd wrote: post #61

renewiltord wrote: post #51

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!

You guys have your whole genome? Damn, I’ve only got my exome.

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

#77

Post by dham » Tue, Oct 03, 2023, 12:14 AM UTC

I understand there are hereditary cancers, but isn't cancer a metabolic disease in a lot of cases?

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

#78

Post by gww » Tue, Oct 03, 2023, 12:28 AM UTC

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…

Grails test isn't for somatic mutations but cancer specific DNA methylation patterns. DNA methylation is slightly more challenging to work with due to how the methylation is identified from sequencing data. There's a chemical of enzymatic step to convert unmethylated bases to another base. In humans it's usually unmethylated cytosines to thymines. The analysis is also more complicated but mostly standard now. Nonetheless, DNA methylation has proven to be very useful for liquid biopsies.

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

#79

Post by renewiltord » Tue, Oct 03, 2023, 12:38 AM UTC

ellisv wrote: post #76

huytersd wrote: post #61

Earlier quoted context omitted.

I never considered this as I have my full genome too. Please update the thread if you receive a response to this!

You guys have your whole genome? Damn, I’ve only got my exome.

Got mine from Nebula (run by George Church). It's whole genome.

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

#80

Post by briHass » Tue, Oct 03, 2023, 1:14 AM UTC

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'm not a doctor, so standard disclaimers apply: I've followed the LEF's recommended list (https://www.lifeextension.com/magazine/2006/5/report_blood) since I was in my early 30s. Doing them every year or two, out-of-pocket using DirectLabs or similar, which frequently goes on sale for ~$250. The key mentioned on that LEF page, and echoed by longevity doctors, is that the standard test ranges are often too wide.

I also paid out of pocket recently (age 42) for a coronary calcium scan. It was surprisingly inexpensive (~$125), but did require a prescription.

One thing you will probably hear from your GP is that these kinds of tests are a waste of money for someone near 30, and speaking from population averages, they're correct. Odds are, there won't be anything in there that is actionable or useful, but I think there's value in establishing a baseline and observing trends over the years. Of course, if you fall into the rare case where your CAC shows a >0 score, that's a really valuable bit of info.

Those, to me, always seemed like the best value to $ spent, for someone younger than 50. I suppose an early (<45) colonoscopy might approach that value, but those would be thousands out of pocket.