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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

#101

Post by optymizer »

AmericanChopper wrote: post #98
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?

We did prenatal tests to ensure that the IVF process we went through actually prevented our CF-genes from combining and causing the fetus to have CF. Also we knew very early there was no Down syndrome.

Unlike eugenics, where otherwise perfectly normal humans would have been born, this use case is focused on negative traits that would have resulted in a lifelong tragedy for everyone involved.

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

#102

Post by AmericanChopper »

optymizer wrote: post #101
AmericanChopper wrote: post #98

Earlier quoted context omitted.

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

We did prenatal tests to ensure that the IVF process we went through actually prevented our CF-genes from combining and causing the fetus to have CF. Also we knew very early there was no Down syndrome. Unlike eugenics, where otherwise perfectly normal humans would have been born, this use case is focused on negative traits that would have resulted in a lifelong tragedy for everyone involved.

> Unlike eugenics, where otherwise perfectly normal humans would have been born, this use case is focused on negative traits that would have resulted in a lifelong tragedy for everyone involved.

If the intention was to abort a genetically undesirable pregnancy, then that is literally textbook eugenics.

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

#103

Post by DanBC »

throwitawayfam wrote: post #44
nsxwolf wrote: post #12

Earlier 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...

Without knowing the sensitivity or specificity there's no way of knowing if it's telling you that you definitely do have cancer or just may have cancer.

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

#104

Post by DanBC »

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.

Often early detection does very little to change when people die. It will mean that 5 year survival rates get better, because you have earlier detection which means more people know they have cancer for five years before they die, rather than finding out they have cancer 3 years before they die.

For lots of people this means they'll get lots of testing, lots of treatment, lots of harm caused by testing and treatment, and some of them will die early, and some of them will die at the same time, and some of them will have their life extended by all this testing and treatment.

It's really complex for the general public to understand this because it involves probability and statistics and these are both things that are very tricky for people to understand. (See eg Monty Hall or regression to the mean or anything involving percentages).

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

#105

Post by Centigonal »

AmericanChopper wrote: post #102
optymizer wrote: post #101

Earlier quoted context omitted.

We did prenatal tests to ensure that the IVF process we went through actually prevented our CF-genes from combining and causing the fetus to have CF. Also we knew very early there was no Down syndrome. Unlike eugenics, where otherwise perfectly normal humans would have been born, this use case is focused on negative traits that would have resulted in a lifelong tragedy for everyone involved.

> Unlike eugenics, where otherwise perfectly normal humans would have been born, this use case is focused on negative traits that would have resulted in a lifelong tragedy for everyone involved. If the intention was to abort a genetically undesirable pregnancy, then that is literally textbook eugenics.

You're not wrong, that is the dictionary definition of eugenics. However painting "aborting a fetus with CF" and "sterilizing the 'undesirable' races" as equivalent is a pretty massive leap in my opinion.

There's historic context to eugenics and a nexus with racism, nationalism, fascism, and physiognomy that makes it a harmful ideology.

I don't think those factors are present in the case where people doing the eugenics are the parents and the phenotype being selected against is dying a slow, painful death in the absence of lifelong exotic drug therapy.

There are really good questions about where to draw the line here though. What if it's type-1 diabetes?

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

#106

Post by logbiscuitswave »

Does anybody know how much this costs? The website is not at all transparent about this.

I’ve been navigating a nightmare through my insurance trying to get BRCA testing because I’m not female despite an immediate familial history and non-trivial potential risks. I’m looking for options so I can understand my risks without paying thousands out of pocket.

Insurance doesn’t seem to have any interest in proactive screening, only in reactive which really sucks.

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

#107

Post by Centigonal »

satvikpendem wrote: post #7

I suppose then that Theranos was never really viable based on the technology back then, as this seems to use "next-generation sequencing" tech.

Even if they had a "perfect" analyzer, that could tell them all about every atom in the sample, Theranos's test still wouldn't have worked.

This is because Theranos's product wasn't just claiming to look at DNA. It claimed to measure things like cholesterol levels and pregnancy hormones, molecules that are circulating in the blood - all with a pinprick of fluid.

If you had a "perfect" analyzer, you would need just one cell to get someone's full genetic code. However, something like blood cholesterol is a statistical average - you need to take enough blood to ensure that the percentage of cholesterol in the sample is reasonably close to the percentage in the patient. It's a population sampling problem (same as how you wouldn't be able to predict a senate election by polling 50 people on who they were going to vote for, even if you could ensure they were 100% truthful with you - it's just not enough people). No tech can get around that.

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

#108

Post by Gibbon1 »

pfisherman wrote: post #59
technocratius wrote: post #16

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...

The sci-fi use case is that an prognostic / diagnostic / active learning agent pulling information from EHRs would use this as a prior. More low tech is that you and your physician are more vigilant when it comes to monitoring or testing for certain types of cancer if you have a high impact onco-variant. Keep in mind that prognosis for cancer improves dramatically when you can detect it early.

Even more sci-fi might be drugs that can mitigate the risk. Notable is the recent cocktail of drugs that coax the defective protein in CF to functioning better. There is one cancer gene I know that causes people to develop polyps in their intestines which then go on to become cancerous. Imagine a drug that stops that.

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

#109

Post by evandijk70 »

satvikpendem wrote: post #7

I suppose then that Theranos was never really viable based on the technology back then, as this seems to use "next-generation sequencing" tech.

'Next-generation sequencing' was arguably invented in 2000, so it would have been available for Theranos. However, AFAIK they never really tried to sequence DNA, so the availability of 'next-generation sequencing' was irrelevant to the accuracy of their test.

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

#110

Post by Broken_Hippo »

jameshart wrote: post #43
nsxwolf wrote: post #12

Earlier 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.

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

I don't follow.

Just because I don't have a genetic risk for some cancers doesn't mean that I'll be OK to smoke. Different cancers have different causes, not all of which are genetic.

It's like saying that since you don't live in an area prone to earthquakes, you can also ignore other possible natural disasters (flooding, tornadoes, landslides, etc).

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