6 ms·

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 indu

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    I feel like GINA act is superseded by the ACA barring pre existing health conditions as a pricing or qualification criteria.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.

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.