Think Gene: Response to “That’s Just Boilerplate” comment
Andrew Yates
· 11 months ago
I continue to be greatly amused to see statements issued by companies that violate their own legal contracts, however. Oh what, a product called "health compass" which claims that "your genes offer a road map to optimal health" is supposed to be interpreted... how? Oh right, as "informational purposes only." Right.
curious
· 11 months ago
I don't think you addressed the cystic fibrosis part of the last person's comment. Are you saying that if a person tested as a carrier for deltaF508 for cystic fibrosis on a test such as 23andMe, that result would in no way influence a physician? As a physician, you would not consider that person to have a much greater chance of conceiving a child with CF and therefore recommend that the spouse was tested as well? I am confused why a doctor would choose to ignore that kind of information. It is not a "weak scientific correlation."
Anon
· 11 months ago
We agree completely that basing health decisions on most of these tests is foolish, unscientific, and probably wouldn't work. But I've provided three examples of where it could be very useful. If you dispute these specific examples, please explain to me why.
In fact, no matter what the contract says, if a doctor was in possession of such test results and DIDN'T warn the patient as I suggest above, he could be held negligent both civilly and professionally.
"gen. arg. for my actions" Yes: Price. $400 for all these tests is way cheaper than I could get them individually. Of course very few of the results are actionable. But "few" doesn't mean "none". Are you telling me that a scientist faced with my examples WOULDN'T act as I outlined above?
"gen. arg. for DTC co's actions": because the tort system in the USA badly needs reform and they don't want to go bankrupt. Don't blame them, they didn't write these rules.
Bottom line: most of the gene results are weakly correlated and almost useless. But a growing handful are strongly correlated and actionable (medically or otherwise). Examples: Age-related Macular Degeneration (up to 29% risk); Cystic Fibrosis or G6PD Deficiency or Glycogen Storage Disease carrier status; Parkinson's; Alzheimer's, etc.
In all these cases, one could get themselves and their fiance/wife/kids tested for carrier status and make decisions based on that. One could modify financial plans for the future in consequence. One could make career choices (eg: getting lower paying job but that has job security and good health care benefits for yourself and family). etc. Well worth $400.
Andrew Yates
· 11 months ago
Curious and Anon... Ok, will respond in a new post ...
rwmccauley
· 11 months ago
Andrew, while I share your frustration about disingenuous disclaimers, I don't get why you keep beating this drum. Do you think DTC ought to go away, or get serious, or what? Seriously, what do you think the remedy is? I can tell you are driving at something, but I don't get what.
I'm a 23andMe customer. I *do* use DTC genetic data to make personal healthcare decisions. Specifically, I've got an allele that puts me at very high risk for AMD, so my optometrist appointments have changed from going shopping for glasses to doing periodic checkups with a serious research opthamologist checking for eyesight deterioration, and an OTC vitamin regimen (from the AREDS study) that may help.
"Medicine isn’t open source software." Yeah, but it ought to be.
As someone who's gone through more than my share of major medical care, I've seen that you get much better personal outcomes when you take an active part in your own health care. And that includes doing the research about treatment options and risks. Sure, not everyone is up for pulling up the relevant papers, but until there *is* a good work flow for personal genomics and evidence-based medicine, and my MD uses it, this is what I'm leaning on.
Steven Murphy MD
· 11 months ago
Not all science makes the cut to become medical care fellas.....that's just how it is.....Scientific validity is no substitute for clinical utility......
Andrew Yates
· 11 months ago
The archetypal example of a diagnostic scientific success but clinical failure is Prostate Specific Antigen (PSA) testing, which, while considered one of the most effective tumor markers in human oncology, is not recommended or tenuously recommend by several prominent medical advisory boards because the treatments for prostate cancer are often more physiologically destructive than the disease itself. In short, "minor" prostate cancer is common, but generally, something else kills you before it advances enough to become a problem.
So, prostate cancer screening can have a net negative clinical outcome (particularly for elderly patients with less than ten years of expected lifespan) despite its successful use to diagnose prostate cancer.
All Comments
In fact, no matter what the contract says, if a doctor was in possession of such test results and DIDN'T warn the patient as I suggest above, he could be held negligent both civilly and professionally.
"gen. arg. for my actions" Yes: Price. $400 for all these tests is way cheaper than I could get them individually. Of course very few of the results are actionable. But "few" doesn't mean "none". Are you telling me that a scientist faced with my examples WOULDN'T act as I outlined above?
"gen. arg. for DTC co's actions": because the tort system in the USA badly needs reform and they don't want to go bankrupt. Don't blame them, they didn't write these rules.
Bottom line: most of the gene results are weakly correlated and almost useless. But a growing handful are strongly correlated and actionable (medically or otherwise). Examples: Age-related Macular Degeneration (up to 29% risk); Cystic Fibrosis or G6PD Deficiency or Glycogen Storage Disease carrier status; Parkinson's; Alzheimer's, etc.
In all these cases, one could get themselves and their fiance/wife/kids tested for carrier status and make decisions based on that. One could modify financial plans for the future in consequence. One could make career choices (eg: getting lower paying job but that has job security and good health care benefits for yourself and family). etc. Well worth $400.
I'm a 23andMe customer. I *do* use DTC genetic data to make personal healthcare decisions. Specifically, I've got an allele that puts me at very high risk for AMD, so my optometrist appointments have changed from going shopping for glasses to doing periodic checkups with a serious research opthamologist checking for eyesight deterioration, and an OTC vitamin regimen (from the AREDS study) that may help.
"Medicine isn’t open source software." Yeah, but it ought to be.
As someone who's gone through more than my share of major medical care, I've seen that you get much better personal outcomes when you take an active part in your own health care. And that includes doing the research about treatment options and risks. Sure, not everyone is up for pulling up the relevant papers, but until there *is* a good work flow for personal genomics and evidence-based medicine, and my MD uses it, this is what I'm leaning on.
So, prostate cancer screening can have a net negative clinical outcome (particularly for elderly patients with less than ten years of expected lifespan) despite its successful use to diagnose prostate cancer.