Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
FDA Cracks Down on DTC Genetic Testing
The blogosphere is buzzing with the news that the FDA is finally cracking down on direct-to-consumer genetic tests, treating them as if they were medical devices and informing companies that sell them that they are selling medical devices without FDA approval. The New York Times' Andrew Pollack says the FDA has sent letters to five companies last week, saying they must have regulatory approval before selling the DTC tests. "Premarket review allows for an independent and unbiased assessment of a diagnostic test's ability to generate test results that can reliably be used to support good health care decisions," wrote the FDA's Alberto Gutierrez in the letters, as quoted by Pollack. The letters stop short, however, of telling the companies to pull the tests off the market, Pollack adds.
Gutierrez told Newsweek's Mary Carmichael that the reason the FDA is only just beginning to crack down on the tests is that the claims of the companies have been very vague and constantly changing, making it hard for the regulatory body to determine how they were being used. But recent findings have shown that the tests could be considered medical devices, Gutierrez says. "If you’re making a claim about [a genetic variant that affects the metabolism of the anticoagulant drug] warfarin, and somebody decides based on the result they get that they want to change their dosing, that is a fairly risky decision. That could affect their health," he told Carmichael.
Pharmacogenomics Reporter, one of the Daily Scan's sister publications, reported that these letters are what the FDA calls "untitled" letters, meaning the companies have been made aware of the FDA's concerns and have a chance to address them and make whatever changes the FDA deems necessary. Based on their responses, the FDA could upgrade to "warning" letters, which are more severe. PGx Reporter's Turna Ray also reported that several presenters at the Consumer Genetics Conference in Boston in the beginning of June said they thought federal regulation of DTC tests was "imminent."
Genomics Law Report's Dan Vorhaus says the letters may not be as significant to the five companies involved — 23andMe, Navigenics, Decode Genetics, Knome, and Illumina — as everyone thinks, especially since the FDA hasn't demanded that the companies remove the products from the market pending review. "So, at least for the moment, we may see little or no immediate change while these companies weigh their options internally and through discussions with the FDA," Vorhaus writes. He suggests the companies' best option would be to change the tests in such a way that would convince the FDA they no longer qualify as medical devices - "for instance by removing the ability of consumers to purchase the product without the participation of a healthcare provider."
Daniel MacArthur at Genetic Future thinks this turn of events could spell disaster for the personal genomics industry. "Excessive regulation would negatively impact on innovation in the field by increasing the barrier to entry for new products, as well as increasing costs for consumers," he says, adding that this move looks like it's motivated by publicity on the FDA's part — in the wake of the 23andMe test results mix-up — rather than by a genuine drive to protect consumers.
John Timmer at Ars Technica agrees that this development could put a freeze on further companies entering the DTC genetics market, and "significantly alter" the price of existing DTC genetics tests, but has a different opinion on what motivated the FDA to get serious about regulation. "It's pretty obvious that the DTC companies were promoting the ability of their services to offer information relevant to human health to one degree or another. … The FDA's action is as much about recognizing that reality as anything else," he says.
We were so lucky that the
We were so lucky that the clueless lawmakers were too late to regulate internet.
DTC companies in America were not that lucky.
FDA Did Not Crack Down on DTC
FDA Did Not Crack Down on DTC Genetic Testing
Juan Enriquez predicted in 2001 that “genomics” will compare to “digital” in global impact. No doubt, but on the way to the genome revolution isn’t it hard to keep track of who is doing what and what is significant? The US FDA’s actions last week represent just the kind of fluctuation that shifts the scene and changes the balance. Whether that’s just for now or forever remains to be seen.
The revolution’s drivers have long been aware that the many subfields of genomics: consumer genomics, educational genomics, recreational genomics, genomics of ancestry, etcetera must be distinguished from medical genomics. While each category may be regulated (or not) by government, legal, economic or medical agencies in countries worldwide, I believe there is a way to cut to the chase and get on with the genome revolution. That’s why yours truly focused on developing the commercial business model for genome applications, as illustrated in the YouTube Shop for Your Life!. The commercial business model offers the fastest growth and the most immediate consumer adoption, based on consumers’ freedom of choice, with the least interference from lawyers, regulators and governments.
...but back to the US fracas and what is happening, or better said, not happening. I admire the legally precise analysis of Dan Vorhaus, who suggests that it may be a misunderstanding to think that “The FDA Cracks Down on DTC Genetic Testing”. As he says, the Gutierrez letters (G-5) “may not be as significant”. In fact, did FDA’s Alberto Gutierrez “crack down” at all on DTC? There is no “cease and desist” order, no deadlines, no specific documentation to submit, but rather just the suggestion that there be a long brewing and largely ongoing dialog with the FDA. --doesn’t sound like an enthusiastic endorsement of the genome revolution, but neither does it indicate the end of the U.S. version of the genome revolution. As he points out in his video, even the agency’s director could re-think and update somewhat blurred definitions; i.e., what “medical device” may mean in the genomic age – a giant leap away from the 1976 mandate of FDA. Is it possible that the G-5 letters are just setting the stage for the widely heralded Congressional Investigation on DTC Genome Testing? Surely when Francis Collins, M.D., Ph.D., and Director of NIH, who wrote the book on Personalized Medicine, is called to testify before the Congressional Committee on Energy and Commerce, he can be expected to offer his specific recommendations from the NIH Genetic Testing Registry and could well suggest that registration be made mandatory, pursuant to an endorsement of the Congressional Committee. Note his initiation comments this March NIH Genetic Testing Registry.
In the same spirit of educating the public through the political stage, the G-5 letters to Knome and Illumina may amount to invitations to two of the world’s pre-eminent genome R&D and industrial experts, Harvard Genomics Professor George Church, co-Founder of Knome, and Illumina CEO Jay Flatley to deliver Congressional Testimonies. With the nation watching, they could guide the Congressional Committee to bring the FDA into the genome revolution, or find/shape/create the agency or entity that will embrace it to the maximum benefit of the American public. Is it that the FDA has been remarkably passive for 3 years and now, with a Congressional Investigation imminent, feels the need to protect itself from all criticism that could suggest “it never flexed its muscles”? Sure, there was some muscle flexing when earlier G-3 letters seem to have scared Pathway Genomics away from DTC without resorting to anything that could be labeled “inappropriate regulation”. The earlier Gutierrez salvo, G-3, was just a scary demand for a lot of documentation with a deadline so short there was no time for the Congressional Committee to act. Now, the G-5 may be entrée for participation in the genome revolution a la U.S. style with Congress dominant and the FDA retaining a scary innocence.
So, let us watch the Congressional Committee conduct its eminently predictable hearings, and recommend appropriate legislation; through which “medical genomics” and “off-the-shelf genomics” (commercial and other non-medical utilization of information) should be clearly distinguished. We can be sure that if FDA is left to regulate Medical Genomics, it won’t be the same FDA with the 1976 mandate Alberto Gutierrez notes in his video.
This said, it is still possible that forces in the U.S. may be getting ready for the big “crack down”, or even planning to kill DTC in the U.S, and diminish the country’s status in our Genomic Age. In fact, they could manage a big set-back for the U.S. just by imposing a cumbersome legal agenda that takes so long the U.S. could miss its chance just by having to wait, all while DTC in Asia soars. We can hope that Congress will be well aware that there isn’t enough money to address escalating health care (sick care) and listen to “We the People” demanding genome-based prevention. The Congressional Committee would be well advised to keep DTC business open during legal renovations through a moratorium on any further regulation of DTC until legislation puts the regulatory houses in order.
If the U.S. does bow out or just misses the boat, I look at Asia as particularly conducive to the kind of commercial genomics I promote, which are based on a genome computing architecture that applies smart phones to empower consumers to exercise their freedom of choice using genome-based recommendations. Asia is advanced in both mobile computing and genomics already, and backed by their Big IT. The really good news is that the number of lawyers per capita is a fraction of the U.S.’s, and so is the cost of labor... more for the U.S. Congress to consider, and they had better do so quickly.
FDA Did Not Crack Down on DTC
FDA Did Not Crack Down on DTC Genetic Testing
Juan Enriquez predicted in 2001 that “genomics” will compare to “digital” in global impact. No doubt, but on the way to the genome revolution isn’t it hard to keep track of who is doing what and what is significant? The US FDA’s actions last week represent just the kind of fluctuation that shifts the scene and changes the balance. Whether that’s just for now or forever remains to be seen.
The revolution’s drivers have long been aware that the many subfields of genomics: consumer genomics, educational genomics, recreational genomics, genomics of ancestry, etcetera must be distinguished from medical genomics. While each category may be regulated (or not) by government, legal, economic or medical agencies in countries worldwide, I believe there is a way to cut to the chase and get on with the genome revolution. That’s why yours truly focused on developing the commercial business model for genome applications, as illustrated in the YouTube Shop for Your Life!. The commercial business model offers the fastest growth and the most immediate consumer adoption, based on consumers’ freedom of choice, with the least interference from lawyers, regulators and governments.
...but back to the US fracas and what is happening, or better said, not happening. I admire the legally precise analysis of Dan Vorhaus, who suggests that it may be a misunderstanding to think that “The FDA Cracks Down on DTC Genetic Testing”. As he says, the Gutierrez letters (G-5) “may not be as significant”. In fact, did FDA’s Alberto Gutierrez “crack down” at all on DTC? There is no “cease and desist” order, no deadlines, no specific documentation to submit, but rather just the suggestion that there be a long brewing and largely ongoing dialog with the FDA. --doesn’t sound like an enthusiastic endorsement of the genome revolution, but neither does it indicate the end of the U.S. version of the genome revolution. As he points out in his video, even the agency’s director could re-think and update somewhat blurred definitions; i.e., what “medical device” may mean in the genomic age – a giant leap away from the 1976 mandate of FDA. Is it possible that the G-5 letters are just setting the stage for the widely heralded Congressional Investigation on DTC Genome Testing? Surely when Francis Collins, M.D., Ph.D., and Director of NIH, who wrote the book on Personalized Medicine, is called to testify before the Congressional Committee on Energy and Commerce, he can be expected to offer his specific recommendations from the NIH Genetic Testing Registry and could well suggest that registration be made mandatory, pursuant to an endorsement of the Congressional Committee. Note his initiation comments this March NIH Genetic Testing Registry.
In the same spirit of educating the public through the political stage, the G-5 letters to Knome and Illumina may amount to invitations to two of the world’s pre-eminent genome R&D and industrial experts, Harvard Genomics Professor George Church, co-Founder of Knome, and Illumina CEO Jay Flatley to deliver Congressional Testimonies. With the nation watching, they could guide the Congressional Committee to bring the FDA into the genome revolution, or find/shape/create the agency or entity that will embrace it to the maximum benefit of the American public. Is it that the FDA has been remarkably passive for 3 years and now, with a Congressional Investigation imminent, feels the need to protect itself from all criticism that could suggest “it never flexed its muscles”? Sure, there was some muscle flexing when earlier G-3 letters seem to have scared Pathway Genomics away from DTC without resorting to anything that could be labeled “inappropriate regulation”. The earlier Gutierrez salvo, G-3, was just a scary demand for a lot of documentation with a deadline so short there was no time for the Congressional Committee to act. Now, the G-5 may be entrée for participation in the genome revolution a la U.S. style with Congress dominant and the FDA retaining a scary innocence.
So, let us watch the Congressional Committee conduct its eminently predictable hearings, and recommend appropriate legislation; through which “medical genomics” and “off-the-shelf genomics” (commercial and other non-medical utilization of information) should be clearly distinguished. We can be sure that if FDA is left to regulate Medical Genomics, it won’t be the same FDA with the 1976 mandate Alberto Gutierrez notes in his video.
This said, it is still possible that forces in the U.S. may be getting ready for the big “crack down”, or even planning to kill DTC in the U.S, and diminish the country’s status in our Genomic Age. In fact, they could manage a big set-back for the U.S. just by imposing a cumbersome legal agenda that takes so long the U.S. could miss its chance just by having to wait, all while DTC in Asia soars. We can hope that Congress will be well aware that there isn’t enough money to address escalating health care (sick care) and listen to “We the People” demanding genome-based prevention. The Congressional Committee would be well advised to keep DTC business open during legal renovations through a moratorium on any further regulation of DTC until legislation puts the regulatory houses in order.
If the U.S. does bow out or just misses the boat, I look at Asia as particularly conducive to the kind of commercial genomics I promote, which are based on a genome computing architecture that applies smart phones to empower consumers to exercise their freedom of choice using genome-based recommendations. Asia is advanced in both mobile computing and genomics already, and backed by their Big IT. The really good news is that the number of lawyers per capita is a fraction of the U.S.’s, and so is the cost of labor... more for the U.S. Congress to consider, and they had better do so quickly.