9 ms·

First blood test for dozens of hereditary cancers approved by FDA

• denvaar 3y ago
  Any Cancer-related news is exciting, but at the same time, I feel like knowing that I'm at an increased risk will make me obsess over it, and end up being a net-negative for me.
• ortusdux 3y ago
  Direct link to FDA announcement: https://www.fda.gov/news-events/press-announcements/fda-grants-first-marketing-authorization-dna-test-assess-predisposition-dozens-cancer-types https://www.fda.gov/news-events/press-announcements/fda-gran...
• reaperman 3y ago
  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/ https://www.galleri.com/
  • nsxwolf 3y ago
    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 3y ago
      It's actionable by your insurance provider.
      • kulahan 3y ago
        It explicitly is not, thanks to the GINA act.
        • lotsofpulp 3y ago
          I feel like GINA act is superseded by the ACA barring pre existing health conditions as a pricing or qualification criteria. 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.
          • jmye 3y ago
            You still get asked smoking status on the exchange. It affects subsidy levels. * edit to say, I think it actually asks about tobacco use, not specifically smoking. But the point remains. That said, most people know absolutely nothing about health insurance or health care in the US beyond the memes.
            • lotsofpulp 3y ago
              That is what I meant, legally, health insurance companies can only take into account your age/location/tobacco use in their premium pricing, hence that is all they ask you.
              • jmye 3y ago
                Ahh, sorry, I misread your post. Thought you were saying they couldn’t because it was pre-existing. My bad, and your larger point was still correct.
    • evangow 3y ago
      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 3y ago
      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 3y ago
      Or if it turns out you lack the genetic predisposing factors, risk-homeostasis your way into justifying smoking and eating badly and exercising less.
      • Broken_Hippo 3y ago
        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).
        • jameshart 3y ago
          Risk homeostasis is the mechanism by which humans compensate for reduced risks in one dimension by increasing their level of risk taking in others. https://en.wikipedia.org/wiki/Risk_compensation https://en.wikipedia.org/wiki/Risk_compensation
    • throwitawayfam 3y ago
      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...
      • elif 3y ago
        You would think so, but when I brought the information pamphlet to my GP (who does blood work in office and took 2 vials for other tests at the same visit) and told her I am happy to pay the $1k out of pocket, she took a couple of weeks to research it, but couldn't find a way to prescribe it in the hospital system. Since it is a prestigious research hospital, she even found clinical trials ongoing and tried to get me included but I was too young for any of their subject groups. 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)
        • blindriver 3y ago
          You can do this via Galleri web site where a doctor will prescribe it for you. 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.
          • reaperman 3y ago
            Insurance unlikely to reimburse you, but its not prohibitively expensive. Some top tier employers like McKinsey cover the costs for employees over the age of 40.
      • DanBC 3y ago
        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.
    • PlunderBunny 3y ago
      I believe that some woman with a hereditary risk of breast cancer voluntarily undergo mastectomies even prior to cancer being detected.
      • Findecanor 3y ago
        Angelina Jolie famously did just that, replacing them with implants, after a positive gene test. 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 ...
    • zerocrates 3y ago
      As a specific example, this includes BRCA1/2 mutation testing, mutations that are strongly associated with breast and ovarian cancer. Actionable outcomes from a positive result could go from something as small as getting more frequent screenings up to something like prophylactic mastectomy and/or oophorectomy.
      • astrange 3y ago
        If this is a DNA test why does it need to use blood instead of saliva or cheek scraping?
        • cma 3y ago
          > Since WGS technology has no PCR enrichment of targeted regions, non-human contamination has a higher impact on overall sample quality metrics and can cause higher sample failure rates in Saliva and Buccal specimens. Therefore, blood is the preferred specimen for the Invitae Exome, when available.
          • justrealist 3y ago
            Saliva is fine if quality is good, but it's incredibly hard to get people to follow protocol (no eating or drinking for 30 minutes, fill up to the line, shake the tube...) Blood you can't really mess up because a phlebotomist handles the protocol.
    • reaperman 3y ago
      Well if you have the FAP (Familial Adenomatous Polyposis) gene then the action is to get your colon removed during adolescence, 20 years before you certainly die of colon cancer. The recovery is much easier at 15 than at 35.
      • nsxwolf 3y ago
        I just went and read about that and now I’m never complaining about anything ever again.
    • DanBC 3y ago
      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).
      • akoboldfrying 3y ago
        Everything you say is correct, but I think it's easy to come away with the impression that early detection is not helpful in living longer when I'm certain that's not the case. 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.
        • reaperman 3y ago
          False positive rates are a concern for any widespread medical testing. If you test everyone in the USA for a rare disorder, a super great test might have a 1% false positive rate and 1% false negative rate. It's good that you catch 99% of people with the disorder, but that might only be 10,000 people. At the same time, you'll get 3.3 million false positives which will absolutely swamp the medical systems for follow-up tests, some of which will also have false positives. This costs a ton of money at the very least for unnecessary follow-up testing, and realistically would overwhelm the medical systems designed for just those 10,000 people. It also causes a great amount of undue stress and financial burden on the 3.3 million affected families. 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.
  • margalabargala 3y ago
    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 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 3y ago
      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 3y ago
        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.
      • gww 3y ago
        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.
• extraduder_ire 3y ago
  For anyone not reading the article, it's done via "next-generation sequencing" of DNA in the blood.
• jseliger 3y ago
  This is great! I got the Invitae test (due to this: https://jakeseliger.com/2023/07/22/i-am-dying-of-squamous-cell-carcinoma-and-the-treatments-that-might-save-me-are-just-out-of-reach/ 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/molecular-profiling/blood-profiling/ https://www.carislifesciences.com/products-and-services/mole... or Guardant360: https://guardanthealth.com/products/tests-for-patients-with-advanced-cancer/ https://guardanthealth.com/products/tests-for-patients-with-... approved seems important from an insurance standpoint.
  • capnkap 3y ago
    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 3y ago
      FDA authorization definitely does have something to do with insurance coverage, it just isn’t a necessary nor sufficient condition.
      • jxf 3y ago
        It is a necessary condition for a number of treatments and insurance companies, but not all of them.
    • notQuiteEither 3y ago
      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.
• copperx 3y ago
  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 3y ago
    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/ 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)
  • deleted 3y ago
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  • joysofpi 3y ago
    they use different approaches. 23andme even has a short writeup on this: https://customercare.23andme.com/hc/en-us/articles/202904600-Difference-Between-DNA-Genotyping-Sequencing https://customercare.23andme.com/hc/en-us/articles/202904600...
  • rflrob 3y ago
    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-of-23andme-s-cancer-gene-test/ https://www.biospace.com/article/invitae-challenges-accuracy...
• satvikpendem 3y ago
  I suppose then that Theranos was never really viable based on the technology back then, as this seems to use "next-generation sequencing" tech.
  • tptacek 3y ago
    It looks like Invitae is a full blood draw, done with a phlebotomist, not a microfluidic pin-prick invention.
  • inglor_cz 3y ago
    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.
    • TylerE 3y ago
      I have serious doubts that any individual or company, starting from scratch not having previously built rockets, gets to the moon on $50b, especially with any sort of safety margin built in.
  • Centigonal 3y ago
    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.
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• lepus 3y ago
  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.
• killingtime74 3y ago
  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.
• jncfhnb 3y ago
  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 3y ago
  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 3y ago
  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...
  • carbocation 3y ago
    GINA should protect you against this (for health insurance) in the US but it does not necessarily extend to other forms of insurance.
    • deleted 3y ago
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    • kulahan 3y ago
      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 3y ago
        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?
        • rlabrecque 3y ago
          yes.
  • autoexec 3y ago
    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.
• NKosmatos 3y ago
  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.
• spullara 3y ago
  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 3y ago
  You thought dating was hard now...
• tikkun 3y ago
  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.
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  • ck_one 3y ago
    I am in the same situation. Would love for somebody with more knowledge to jump in and give some hints.
  • briHass 3y ago
    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 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.
• ourmandave 3y ago
  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.
• renewiltord 3y ago
  I have full genome sequence. Are the variants present somewhere I can download so I can match it up against my FASTQ?
  • huytersd 3y ago
    I never considered this as I have my full genome too. Please update the thread if you receive a response to this!
    • ellisv 3y ago
      You guys have your whole genome? Damn, I’ve only got my exome.
      • renewiltord 3y ago
        Got mine from Nebula (run by George Church). It's whole genome.
  • dekhn 3y ago
    ClinVar will have many variants associated with disease, but not in a way that a typical layperson would be able to interpret.
    • renewiltord 3y ago
      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.
      • yellowcake0 3y ago
        The variants in ClinVar will have genomic coordinates associated with them, each given with respect to a particular reference genome, e.g. 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.
• deleted 3y ago
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• pfisherman 3y ago
  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 healthcare system is bonkers. 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.
  • AmericanChopper 3y ago
    What use cases exist for prenatal genetic testing, other than eugenics?
    • optymizer 3y ago
      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.
      • AmericanChopper 3y ago
        > 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.
        • Centigonal 3y ago
          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?
• mpoon 3y ago
  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/yT22RcWrxZcXyGjsA/how-to-have-polygenically-screened-children https://www.lesswrong.com/posts/yT22RcWrxZcXyGjsA/how-to-hav...
  • prometheus76 3y ago
    What are the moral implications of not knowing your unborn child has a risk of ADHD or diabetes? I am not following your reasoning.
    • haswell 3y ago
      In a scenario where embryo selection is possible, it does seem like new moral/ethical considerations arise if you have the ability to choose an embryo that is at a lower risk for long term issues. 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.
      • prometheus76 3y ago
        To suggest we should choose an embryo that is at lower risk of long-term issues reveals an underlying presupposition that suffering should be avoided or is bad. There are many examples throughout history of people who rose to great heights as a result of facing their suffering bravely.
        • haswell 3y ago
          While you will always find stories of people who've overcome great difficulties, there is no virtue in suffering for no reason, and when possible, we use medical interventions to prevent or avoid it. The success scenarios shouldn't imply that the state of suffering is itself desirable, even if it does sometimes lead to inspiring outcomes. There are plenty of examples of the opposite, with suicides providing a counterpoint at the extreme. 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".
• wpnx 3y ago
  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 https://www.color.com/cancer
• dham 3y ago
  I understand there are hereditary cancers, but isn't cancer a metabolic disease in a lot of cases?
• iandanforth 3y ago
  How does this relate to whole genome sequencing?
• jttrx 3y ago
  Is there a list of SNPs they test for? I've got my WGS and it'd be interesting to checks for them.
• logbiscuitswave 3y ago
  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.