I have full genome sequence. Are the variants present somewhere I can download so I can match it up against my FASTQ?
First blood test for dozens of hereditary cancers approved by FDA
51–60 of 127 posts
Re: First blood test for dozens of hereditary cancers approved by FDA
#52Earlier quoted context omitted.
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.
FDA authorization definitely does have something to do with insurance coverage, it just isn’t a necessary nor sufficient condition.
It is a necessary condition for a number of treatments and insurance companies, but not all of them.
Re: First blood test for dozens of hereditary cancers approved by FDA
#53Any 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.
Re: First blood test for dozens of hereditary cancers approved by FDA
#54[deleted]
Re: First blood test for dozens of hereditary cancers approved by FDA
#55This is great! I got the Invitae test (due to this: 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/mole... or Guardant360: https://gua…
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.
In many cases medical insurers outsource decisions on what tests to cover to care guideline vendors such as MCG and Change Healthcare (Optum). Those vendors periodically update their guidelines based on medical research and evidence-based medicine protocols. For a new test to be covered it generally has to demonstrate some clear benefit in terms of improved patient outcomes.
Re: First blood test for dozens of hereditary cancers approved by FDA
#56This is great! I got the Invitae test (due to this: 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/mole... or Guardant360: https://gua…
FDA approval is but the first step to actual usage by clinicians and reimbursement by insurance companies.
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
Re: First blood test for dozens of hereditary cancers approved by FDA
#57For 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.
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.
Re: First blood test for dozens of hereditary cancers approved by FDA
#58Earlier quoted context omitted.
It's actionable by your insurance provider.
It explicitly is not, thanks to the GINA act.
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.
Re: First blood test for dozens of hereditary cancers approved by FDA
#59My 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.
Re: First blood test for dozens of hereditary cancers approved by FDA
#60This is great! I got the Invitae test (due to this: 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/mole... or Guardant360: https://gua…
On a possibly crass tangent, how are you doing. Has the situation improved?