3 ms·

First, let me say that I'm very much in favor of the direction that 23andMe is headed. Personalized genetic medicine is the future. Generic small molecule treat

First, let me say that I'm very much in favor of the direction that 23andMe is headed. Personalized genetic medicine is the future. Generic small molecule treatments (and by generic, I mean that they're given to patients based on the disease and not based on the patient+disease profile) have pretty much hit their limit of efficacy and biologics are a lot like supersonic airliners: they'd be great in theory if there weren't so many problems with them in practice. I also sympathise with the way that the GAO, the FDA, and a number of other groups that have been weighing in on this issue have been lumping together 23andMe with some of the less reputable players in this burgeoning industry. That said, I still don't agree with what 23andMe is doing. I've nearly completed a Ph.D. in computational biochemistry and have been helping my wife with her thesis in cell signaling, and the only thing I can tell you about the information contained in a genetic profile that 23andMe provides you is that you can't really tell much, if anything, from the profile that 23andMe provides you. Even supposedly straight-forward genetics like the presumably Mendelian pattern of inheritance in CFTR SNPs can get complicated fast. For example: http://www.ncbi.nlm.nih.gov/pubmed/14966131 http://www.ncbi.nlm.nih.gov/pubmed/14966131 Of course, the real problem with 23andMe isn't with 23andMe but with the FDA. The FDA's job, first and foremost, is to keep people safe. IT IS NOT THE FDA's CONCERN TO SEE NEW TREATMENTS DEVELOPED! The result of this is that the medical community and the pharmaceutical industry are caught in a bit of a catch-22. Everyone that I've spoken too (including past CSO's of large-name pharmaceutical companies) recognizes that including genetic profiling of patients in drug trials might reveal that different people benefit from some drugs more than others, and that this is linked to genetics. In fact, you can probably recognize this yourself: When you get a headache, what do you reach for? For me, Ibuprofen does the trick, but Acetaminophen (Paracetemol) does nothing. For my wife, it's the reverse. This is almost definitely linked to genetics. The problem is that genetic profiling for drug trials is expensive and, get this, as of yet unproven to make a difference! Therefore, even if a pharmaceutical company went to the expense of including genetic profiling in their drug trial, the FDA would reject the results based on the fact that genetic profiling is unproven. So, nobody does genetic profiling. So you can't prove the usefulness of genetic profiling. etc. Now, you might think that 23andMe has a chance of solving this issue, by allowing people to take control of their own genetic profiling, but I think they're actually doing more harm than good. Unless you are highly trained in genetics and keep up with recent literature, you're not going to know what to do with that profile. If you bring that profile to a doctor, they will pretty much have to disregard it without a second thought (see FDA argument above). Honestly, with the current state of medical research and pharmaceutical regulation, a 23andMe profile is worth the paper you printed it on. What's worse, the more doctors get pestered with people bringing in their own profiles, the less likely they are to pay heed to any of it, and the distraction that this causes the FDA, worrying about whether they should regulate 23andMe or not, prevents the root issue from being addressed. I liken 23andMe to Quest Diagnostics. If you've visited a doctor recently, you're probably familiar with Quest. But when was the last time you went to Quest asking for a blood test without being prompted to do so by a physician? Honestly, you'd probably learn more on your own looking at the results of a cholesterol test or CBC than by perusing your own genetic profile. Until the U.S. (or, more likely these days, the E.U.) makes a major push for research into personalized genetic medicine, 23andMe will be little more than a novelty.

_delirium 16y ago
> If you bring that profile to a doctor, they will pretty much have to disregard it without a second thought (see FDA argument above). I've heard some of this from friends who are doctors, mostly because in their view genetically-customized medicine is still a very new area, and there aren't any particularly great rules of thumb yet. If you had infinite time to spend on one patient, there's a possibility you could research the current literature, find something that correlates to something on a printout they brought you, and if you're lucky and it's the right kind of condition, have somewhat more information on which to make a good treatment decision. But that's doing original research, and pretty speculative research at that, and as a full-time doctor you can't also be doing full-time research developing new treatments. More to the point, the vast majority of medicine isn't really medical-TV-show-style complex sleuthing cases that need every clue possible. There are way bigger sources of error than genetic variation, like overworked doctors totally missing tell-tale symptoms, or patients not finishing courses of antibiotics, that are much lower-hanging fruit if you wanted to look for ways to improve health-care. It hasn't gotten common enough to be a problem yet, but one of my friends in particular is very worried that the main effect will be to create an even bigger new class of people who've self-diagnosed incorrectly and refuse to be corrected or follow treatment suggestions from their doctor, like the current crop of people who will go doctor-to-doctor until someone gives them an antibiotic that they're convinced they need.
moultano 16y ago
>Now, you might think that 23andMe has a chance of solving this issue, by allowing people to take control of their own genetic profiling, but I think they're actually doing more harm than good. 23andMe told me that I'm a carrier for phenylketonuria. That's useful information to me, and strictly factual. The other slight-increased-risk-of-this slight-increased-risk-of-that isn't all that useful, but who cares? They give you the odds. I can't imagine what more you'd expect from them than to present current research conclusions as unbiasedly as they can. I think you have a mistaken impression about what their product does.
- jballanc 16y ago
  > 23andMe told me that I'm a carrier for phenylketonuria. That's useful information to me, and strictly factual. Quick! What's your chance of passing this on to your child? If you said that it depends on the genotype of your spouse, you win! If your spouse doesn't have phenylketonuria, what's the probability? If you said 1/4, your right! Now, let's say you've met someone and convince them to get a genetic test, and they turn out to also be a carrier, what do you do? Do you risk the 1/4 chance? One of the really interesting things about the human genome project was that the scientists involved knew that these sorts of hard questions would come up, so they really emphasized the human and counseling aspect of the research, in addition to the hard science. These are the types of people who are upset that 23andMe has mostly undone what they were attempting to do by emphasizing a holistic approach to people understanding their own genetics. Also, I just have to point out how ironic your example is. In fact, this information is rather useless. Phenylketonuria is a relatively easily managed disease, and all children born in the U.S. (and many other countries) are already tested at birth, paid for by the government who did the studies and decided this was a good test to do. You actually didn't learn anything you wouldn't have potentially found out anyway (and at no cost to you).

_delirium 16y ago

> If you bring that profile to a doctor, they will pretty much have to disregard it without a second thought (see FDA argument above). I've heard some of this from friends who are doctors, mostly because in their view genetically-customized medicine is still a very new area, and there aren't any particularly great rules of thumb yet. If you had infinite time to spend on one patient, there's a possibility you could research the current literature, find something that correlates to something on a printout they brought you, and if you're lucky and it's the right kind of condition, have somewhat more information on which to make a good treatment decision. But that's doing original research, and pretty speculative research at that, and as a full-time doctor you can't also be doing full-time research developing new treatments. More to the point, the vast majority of medicine isn't really medical-TV-show-style complex sleuthing cases that need every clue possible. There are way bigger sources of error than genetic variation, like overworked doctors totally missing tell-tale symptoms, or patients not finishing courses of antibiotics, that are much lower-hanging fruit if you wanted to look for ways to improve health-care. It hasn't gotten common enough to be a problem yet, but one of my friends in particular is very worried that the main effect will be to create an even bigger new class of people who've self-diagnosed incorrectly and refuse to be corrected or follow treatment suggestions from their doctor, like the current crop of people who will go doctor-to-doctor until someone gives them an antibiotic that they're convinced they need.

moultano 16y ago

>Now, you might think that 23andMe has a chance of solving this issue, by allowing people to take control of their own genetic profiling, but I think they're actually doing more harm than good. 23andMe told me that I'm a carrier for phenylketonuria. That's useful information to me, and strictly factual. The other slight-increased-risk-of-this slight-increased-risk-of-that isn't all that useful, but who cares? They give you the odds. I can't imagine what more you'd expect from them than to present current research conclusions as unbiasedly as they can. I think you have a mistaken impression about what their product does.

jballanc 16y ago
> 23andMe told me that I'm a carrier for phenylketonuria. That's useful information to me, and strictly factual. Quick! What's your chance of passing this on to your child? If you said that it depends on the genotype of your spouse, you win! If your spouse doesn't have phenylketonuria, what's the probability? If you said 1/4, your right! Now, let's say you've met someone and convince them to get a genetic test, and they turn out to also be a carrier, what do you do? Do you risk the 1/4 chance? One of the really interesting things about the human genome project was that the scientists involved knew that these sorts of hard questions would come up, so they really emphasized the human and counseling aspect of the research, in addition to the hard science. These are the types of people who are upset that 23andMe has mostly undone what they were attempting to do by emphasizing a holistic approach to people understanding their own genetics. Also, I just have to point out how ironic your example is. In fact, this information is rather useless. Phenylketonuria is a relatively easily managed disease, and all children born in the U.S. (and many other countries) are already tested at birth, paid for by the government who did the studies and decided this was a good test to do. You actually didn't learn anything you wouldn't have potentially found out anyway (and at no cost to you).