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Creating hyperlinks between genes and research papers is not what I'd call diagnosing. You find evidence of ABCD gene, you search all research papers that cite

Creating hyperlinks between genes and research papers is not what I'd call diagnosing. You find evidence of ABCD gene, you search all research papers that cite ABCD, you curate and rank papers by quality, summarize related conditions with statistical correlations. This is just a high-tech version of me using WrongDiagnosis.com, typing in 5 or 6 symptoms, and having it return all possible articles that cite those symptoms, ranked by number of simultaneous occurrences. The potential hack to defeat the FDA here is to simply split the company in 2 parts. Company #1 sells a $99 service which gives does the test. Company #2 is a partner of Company #1 through an API. Consumers can elect to OAuth access of their gene data from Company #1 to Company #2. Company #2 takes gene data over an API and sells you linked and ranked reports on it. Company #2 sells no devices, performs no tests. They are pure software bioinformatics. They take standard file formats and produce reports. Consumers can elect not to use Company #2's services, get their own private data in raw format and write their own python scripts if they want. Or, consumers can buy Company #2's services, but supply their own data from any company that offers personal genomics raw-data dumps. The idea that me reading ranked reports to research papers linked to my personal health data is 'extraordinary claims' and a danger to me is frankly offensive. I would hope that a company offering software that parsed and processed genetic data and turned it into linked reports from crawled research papers could be considered a first amendment right. But if not, the github approach is certainly a worthwhile approach. Again, as I said in other posts, the FDA doesn't regulate supplements, doesn't regulate Dianetics/Scientology, didn't stop "The Secret" from killing people with heat-stroke therapy. It's enormously offensive to me that the government spends so much time going after stuff like this, pot smokers, et al, instead of massively beefing up enforcement over the hundreds or thousands of hucksters selling harmful bullshit health products on radio and late night TV ads. Does no one remember http://en.wikipedia.org/wiki/HeadOn http://en.wikipedia.org/wiki/HeadOn ? Coldeze? Five Hour Energy, which may have actually killed people, and still gets away with deceptive ads. What about Hoodia? Yeah, the FDA advises people not to purchase it, but does nothing to stop consumers from buying it based on false claims of efficacy. People don't like this style of reasoning, but in my opinion, the government regulatory agencies have limited resources. I want the SEC going after big banks and investment firms, not small time insider traders. I want the IRS auditing people who avoided millions or billions in taxes, not the guy who owes $1000. I want the FDA going after things which are much much more likely to be ripping off and harming consumers, either financially, or physically, and on the scale of possible things that can harm you, this is way way down the list based on a really loose theory of someone avoiding treatment by false negative, when in reality, if anything, the majority of people are going to be having more conversations with their doctor over this product. It's like complaining about the people who lost under Obamacare and ignoring the fact that tens of millions more couldn't get any health insurance in the first place.

jheriko 13y ago
i disagree with your assessment of this one situation, but your general approach and attitude is admirable. "FDA doesn't regulate supplements, doesn't regulate Dianetics/Scientology, didn't stop "The Secret" from killing people with heat-stroke therapy." "I want the IRS auditing people who avoided millions or billions in taxes, not the guy who owes $1000." Good stuff.
- tokenadult 13y ago
  The problem there is that FDA has statutory authority to regulate some things and not others. (The notorious exemption is "natural supplements.") But the FDA takes a remarkably thorough approach to what it does regulate. Let me give two examples. Example one: I have been in two FDA-regulated medical trials. One was a placebo-controlled trial of taking fexofenadine daily for indoor allergies. I had no idea if my numbered supply of tablets was placebo tablets or genuine tablets. I had a schedule for taking them, and had to keep a detailed log of symptoms. The second clinical trial I did was a trial of consumer-facing store displays for a proposed over-the-counter medicine for controlling cholesterol. At the test center, there was a mock store display that looked just like the shelves of a pharmacy, and I read the mock labeling and then was asked several questions about my understanding of the purpose and use of the drug. I was even given a brief IQ test as part of the trial, to see how my understanding of the store display would compare with that of someone with a different level of IQ. The FDA is thorough, and it relentlessly uses carefully gathered data and statistics analyzing those data to make regulatory decisions. Example two: My son the hacker had a summer job while still a university student writing code to control the display of a test device to be used by medical doctors in a hospital or clinic setting. He had to think through all the user interactions medical doctors would have with the device, and how to code the device so that it would have high usability for doctors and high reliability. As he neared the end of his summer job, medical doctors came to the medical device company where he worked to do carefully monitored usability testing of the product. My son told me at the end of the summer that the product he worked on would have to be tested with regard to all aspects of hardware and software for several more years, including a complete line-by-line code review of all his code by FDA specialists in software. He heard from his bosses that time to market for that product would be as much as five years after the summer when he worked on it (in other words, still in the future today). The FDA is very thorough in its regulation of medical devices. I also know this from an electrical engineer who is a childhood friend of mine, who has long worked in another medical device company in our town, which has major medical device companies headquartered here. Safety is job one at the FDA. Effectiveness is job two. Both have to be proven before a new drug or medical device goes to market. Simply put, the people at 23andMe have been doing what a mathematician calls "hand-waving," concluding things that they haven't proven. That helps develop a kind of zeal for the task for the long haul, but it doesn't ensure that the task gets done right.

jheriko 13y ago

i disagree with your assessment of this one situation, but your general approach and attitude is admirable. "FDA doesn't regulate supplements, doesn't regulate Dianetics/Scientology, didn't stop "The Secret" from killing people with heat-stroke therapy." "I want the IRS auditing people who avoided millions or billions in taxes, not the guy who owes $1000." Good stuff.

tokenadult 13y ago
The problem there is that FDA has statutory authority to regulate some things and not others. (The notorious exemption is "natural supplements.") But the FDA takes a remarkably thorough approach to what it does regulate. Let me give two examples. Example one: I have been in two FDA-regulated medical trials. One was a placebo-controlled trial of taking fexofenadine daily for indoor allergies. I had no idea if my numbered supply of tablets was placebo tablets or genuine tablets. I had a schedule for taking them, and had to keep a detailed log of symptoms. The second clinical trial I did was a trial of consumer-facing store displays for a proposed over-the-counter medicine for controlling cholesterol. At the test center, there was a mock store display that looked just like the shelves of a pharmacy, and I read the mock labeling and then was asked several questions about my understanding of the purpose and use of the drug. I was even given a brief IQ test as part of the trial, to see how my understanding of the store display would compare with that of someone with a different level of IQ. The FDA is thorough, and it relentlessly uses carefully gathered data and statistics analyzing those data to make regulatory decisions. Example two: My son the hacker had a summer job while still a university student writing code to control the display of a test device to be used by medical doctors in a hospital or clinic setting. He had to think through all the user interactions medical doctors would have with the device, and how to code the device so that it would have high usability for doctors and high reliability. As he neared the end of his summer job, medical doctors came to the medical device company where he worked to do carefully monitored usability testing of the product. My son told me at the end of the summer that the product he worked on would have to be tested with regard to all aspects of hardware and software for several more years, including a complete line-by-line code review of all his code by FDA specialists in software. He heard from his bosses that time to market for that product would be as much as five years after the summer when he worked on it (in other words, still in the future today). The FDA is very thorough in its regulation of medical devices. I also know this from an electrical engineer who is a childhood friend of mine, who has long worked in another medical device company in our town, which has major medical device companies headquartered here. Safety is job one at the FDA. Effectiveness is job two. Both have to be proven before a new drug or medical device goes to market. Simply put, the people at 23andMe have been doing what a mathematician calls "hand-waving," concluding things that they haven't proven. That helps develop a kind of zeal for the task for the long haul, but it doesn't ensure that the task gets done right.