First blood test for dozens of hereditary cancers approved by FDA
insideprecisionmedicine.com
insideprecisionmedicine.com
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.
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.
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
No insurance? Higher premiums? No treatment, for a prior "known condition"?
Required test prior to getting insurance? Renewing?
In any case the problem with the US healthcare system is not that now everyone has a sort-of right to insurance, the problem is on the spending side. Y'all spend many thousands of dollars more per capita than the Swiss [2] but have worse metrics across the board.
[1] https://www.beckerspayer.com/payer/the-house-always-wins-hea...
[2] https://en.wikipedia.org/wiki/List_of_countries_by_total_hea...
- A few fundamental flaws of Obamacare that broke the incentive structure of the healthcare and some regulatory capture. (Granted, the incentive structure has always been a little broken even before Obamacare)
- A broken, overly politicized healthcare system in general (something, everyone can agree with)
However, people always seem to gloss over this fact: The United States is responsible for vast majority of R&D and revenue in the healthcare sector. Frankly, the US taxpayer and consumer are subsidizing the rest of the world including the Swiss.
As a US person, I would love to stop this dynamic and stop hearing this tired, patronizing argument.
It is crazy that people still comment as if a health insurance company in the US can deny or price insurance based on healthiness. It’s been over a decade since anyone would have been asked for anything but age/location/smoking status when getting health insurance.
That said, most people know absolutely nothing about health insurance or health care in the US beyond the memes.
My bad, and your larger point was still correct.
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
Also, patient can get an ultrasound exam (or other applicable) more frequently for an organ that's under a higher risk.
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).
2 years later, I still haven't found a way to take this test and have it's results be meaningful to any actionable health outcomes.
I believe the only thing I can do is find a sketchy online doctor willing to prescribe it, and then roll the dice on whether any related testing or care based upon the results would be covered by insurance (my doctors biggest concern)
It's also weird that your doctor would be worried that insurance won't cover the costs of cancer being detected early. Saving money in this situation is not something that is on the top of my mind. Worst case I incur debt and then declare bankruptcy if I survive.
She also started having yearly tests for ovarian cancer, and only a few years later one of those tested positive, so she had one ovary removed.
Personally, I used to get a yearly colonoscopy after a tumour and a positive gene test, but these days I no longer have a colon ...
Blood you can't really mess up because a phlebotomist handles the protocol.
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).
I'm certain that expected time of death is a nonincreasing function of detection time -- this would necessarily be the case if the treatment never harmed the patient, and even though that's sadly not the case, prescribing a course of treatment that on average shortens patient lives must surely contradict "First do no harm".
If you assign a low quality-of-life score to time spent undergoing certain harsh treatments like chemo, then you could certainly reduce your "total quality of life" (that is, the integral over your lifetime of quality-of-life-at-each-moment) by starting treatment too early. I think that's a reasonable way to frame it. But in terms of maximising lifespan, the earlier you detect it, the better.
Some people will also be unlucky enough to get false positives on the follow-up test, and eventually you may end up performing unnecessary invasive interventions on 30,000 people who don't have the underlying condition.
It's not to say that:
> the earlier you detect it, the better.
Is wrong, per se. But we'll need to narrow down the criteria for who should be recommended to get these tests in order to minimize harms from false-positives. So you'd want to identify risk factors and have a way to check if someone has those risk factors before testing them.
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.
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.
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.
Is there a lot of money to be made from one individual's genetic information?
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.
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.
Can you give any examples?
https://www.genome.gov/about-genomics/policy-issues/Genetic-...
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.
Some of the problem with these types of genetic tests - especially for stuff like PGx - is that physicians have not integrated them into their practice / workflows, so even when they get actionable info from one of these tests they don’t really know what to do with it.
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.
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?
I didn’t make that leap. I was just saying that this is eugenics, because that seems like a factually accurate description to me.
I would agree that not all eugenic systems are created equal, and that while you could debate whether aborting a child with a hereditary condition might be a bad thing to do, it’s at least not bad for all the same reasons as sterilizing populations to achieve some sort of racial purity would be.
I’ve never been confronted with these sorts of decisions, so I can’t be entirely certain how I’d react. But this seems like an important topic to debate as these technologies mature. However one way I can imagine that debate being undermined is if the people developing and advocating for this technology were to succeed in reframing it as somehow being not-eugenics, which to me it seems as though it clearly is. While it might be far less problematic than the Nazi eugenics programs, it’s not clear to me how you could put this technology to use without eventually creating some sort of Gattaca-like situation, which is also deeply problematic, just for different reasons.
And as I mentioned in another response, if this technology eventually becomes very sophisticated, how do you prevent some sort of gattaca-like situation emerging?
You’re still discriminating upon who gets to live, and “at least it’s not racist” doesn’t seem like a particularly compelling defence of that idea to me. It also doesn’t impact the myriad of other potential downstream issues.
But knowing your odds is good.
Better is when we can cure cancers so you get to draw new cards.
Or are there many more variants in this test?
(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)
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...
It’s about $1000 per test.
Would be appreciative. I will try on my own as well.
GRCh38 - chr2:41785474-41785474
or something like that.
You will need to align your FASTQ to one of these reference genomes using a short-read aligner such as BWA-MEM (assuming your genome was sequenced using something like Illumina NGS) to produce a BAM (binary alignment map) file, and then from there use a variant calling tool such as GATK's HaplotypeCaller or Google's DeepVariant to produce a VCF (variant call format) file, which will contain the mutations in your genome. Then you can see if any of the mutations found in your genome match those in ClinVar.
As humans are diploid, you will also need to be cognizant of the zygosity of each mutation, i.e., whether you have a particular mutation on just one of your two chromosomal homologs (heterozygote) or both (homozygous mutant), as this may affect whether or not the mutation is of concern, the variant caller will attempt to determine this for you and report it in the VCF file.
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.
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.
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.
e.g: Color genomics https://www.color.com/cancer
E.g. ezra, prenuvo, q bio, Grail, Freenome, other regular blood testing, and then things like this.
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.
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/yT22RcWrxZcXyGjsA/how-to-hav...
That said, other questions arise like: what happens to the broader population when we start manually selecting for certain traits? It seems like unintended consequences could be lurking as well.
The way I see this, suffering is part of life, and isn't something we can entirely eliminate. When suffering happens, there are better and worse ways to handle it, and good can come from it. But most of cultural/societal evolution is focused on finding ways to reduce or avoid it, and that's a good thing. Obvious examples like improving food security and reducing the impact of previously debilitating illnesses come to mind. I personally grew up not knowing where the next meal would come from some days. That early experience influenced the person I am today. Poverty/starvation are still situations we should continue to try to solve.
So the question really becomes: what differentiates the standard ways we avoid unnecessary suffering from preemptive options that are on the horizon, if anything? i.e. if you have a bad knee, it makes sense to see someone and fix it. Given the choice, there's no reason to choose immobility. If an embryo has a high chance of developing lifelong congenital issues and a future parent has the option to choose an embryo that is significantly less likely to suffer the same fate, why not make that choice, especially if the affliction leads to high child mortality rates?
So yes, I think there is a presupposition that suffering should be avoided when possible (it is often not possible). And I think most of the world runs on this presupposition. This should not be conflated with believing that suffering is inherently "bad", nor should the possibility of positive outcomes lead one to believe that suffering is "good".
[1] https://guides.orchidhealth.com/post/embryo-screening-and-he...