Senator Edward Kennedy (D-Massachusetts) proposed a piece of legislation before the United States Senate on 1 March 2007 called the “Laboratory Test Improvement Act.” The Act is proposed as a series of amendments to the Federal Food, Drug, and Cosmetic Act (FFDCA).
Sen. Kennedy’s statement(pdf) before the Senate, found in the Congressional Record from this month, defines his goal as “[ensuring] the quality of clinical tests used every day in hospitals and doctors’ offices across the country.” Additionally, he pointed out that the “tests are being used to diagnose illnesses, predict who is most susceptible to specific diseases, and identify persons who carry a genetic disease that they could pass on to their children.”
On his website Sen. Kennedy posted a news release that clarified his position:
“The legislation will mandate that all providers of “homebrew” laboratory tests provide the FDA with evidence that verifies their analytical and clinical validity. All of the information submitted to the FDA will be compiled into a database, which will subsequently be made available to the public on the Internet. Presently, an overwhelming majority of the laboratory tests employed by health care facilities are homebrew tests that have not been approved by the FDA. In some instances, homebrew tests are used to diagnose Huntington’s disease and susceptibility to breast cancer. As such, the results of homebrew tests affect the lives of thousands of Americans and their families each and every year.”
Sen. Smith (R-Oregon), co-sponsor of this Act and Ranking Member of the Senate Special Committee on Aging, chaired a hearing in 2006 entitled “At Home DNA Tests: Marketing Scam or Medical Breakthrough?” that addressed the lack of regulation of “homebrew” genetic testing products.
So will this legislation affect the thousands of genetic genealogy tests sold by DNA laboratories in the United States? Most likely not, since genetic genealogy tests do not appear to fall under the ‘intent’ of the Laboratory Test Improvement Act. Rather, it would seem to include companies such as the nutrigenomics company MyCellf (discussed in a previous post) which screens DNA for gene variants associated with disease. Currently, genetic genealogy tests do not intentionally diagnose obvious disease variants (could CCR5, offered by FTDNA, be considered part of this group?).
The Laboratory Test Improvement Act defines a “laboratory-developed test” as one that uses “analytical methods developed by a laboratory to process a biological specimen, whether at 1 laboratory site or multiple sites, to report a test result to a health care practitioner, a patient, or a consumer; and includes an in vitro diagnostic product that the laboratory has modified, unless such modification requires preclearance or preapproval of such modified in vitro diagnostic product under this Act.”
The Act specifically excludes:1) “the processing of a biological specimen to: a) determine paternity, b) aid in forensics, or c) conduct research if the result of the test is not reported to a health care provider, a patient, or a consumer;2) An in vitro diagnostic product; or3) An analyte specific reagent [defined in the Code of Federal Regulations].”
The Act also states that laboratory-developed tests shall be classified as a “device” under section 201(h) of the FFDCA. Section 201(h) defines device as “an instrument, apparatus, implement, machine, contrivance, implant, in vitro reagent, or other similar or related article, including any component, part, or accessory, which is [among other things] intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease, in man…”
Based on the ‘intent’ of the legislation (suggested by Sen. Kennedy’s press release and statements before the Senate) and the definitions contained in the Act, it is unlikely that tests offered for genetic genealogy will fall under the scope of the Laboratory Test Improvement Act.
It is possible that companies offering genetic genealogy testing might be forced to comply with the Laboratory Test Improvement Act in the future if the scope of their sequencing grows. As whole-genome sequencing becomes cheaper and cheaper, companies will want to offer many more options to their customers, including disease gene variants. After all, unless the mutation is spontaneous we inherited the variant from our ancestors. Already the media is filled with stories of whole families that possess a dangerous allele and are submitting their DNA for testing. The line between testing for genealogical purposes and for purely genetic purposes is fading. That being said, the Laboratory Test Improvement Act clearly does not forbid any of the testing described. New “homebrew” tests will be allowed to come onto the market without FDA review provided they a warning that they have not been FDA-cleared or –approved. Perhaps this could benefit consumers by preventing testing by companies who offer sub-par services.
The Text of the proposed legislation is available here. Here is a blog discussion of the legislation and a news article that mentions Genelex, a company that offers both genetic genealogy tests and disease gene screening.
What are your opinions on this topic?
genetic dna etiketine sahip kayıtlar gösteriliyor. Tüm kayıtları göster
genetic dna etiketine sahip kayıtlar gösteriliyor. Tüm kayıtları göster
11 Mart 2008 Salı
Lotsa Links - Forbes Magazine and Genetic Genealogy
The Forbes Series – Forbes has an excellent series of articles relating to genomic sequencing and genetic genealogy. It is well-timed and full of interesting things to think about. I highly recommend reading them all!
1. Will You Get Cancer?
2. The Telltale Tumor
3. Never Mind You – What About Me?
4. Genes of the Rich and Famous
5. Genealogy Gets Genetic
6. 12 Genes That Could Change Your Life
“Genome of DNA Pioneer is Deciphered” - This is a write-up by Nicholas Wade in the New York Times. Unfortunately, Mr, Wade used the word ‘deciphered’ in the article rather than ‘sequenced’. I’m not convinced that this was his choice, but he’s getting some flack for it. In any event, it appears that Watson’s sequence took 2 DVDs rather than just one! There’s a write-up at Nature News as well.
Additionally, the article states Dr. Craig Venter completed his own genome at the Venter Institute in Rockville, Md., and deposited in GenBank last week. There’s no way that the timing was coincidental; he obviously published his genome last week in order to beat Watson to the punch. According to a recent Nature News article (subscription only, here), an analysis of Venter’s genome will be described in a paper in the journal PLoS Biology, and he’s also writing a book, A Life Decoded: My Genome, My Life about his personal genome. The good news is that PLoS Biology is a free access journal, so the vast majority of the population who aren’t in academia can actually read and enjoy this article when it comes out! (In case you can’t tell, I’m a huge proponent of free and open publishing of data, especially that data funded with my tax dollars!!!).
1. Will You Get Cancer?
2. The Telltale Tumor
3. Never Mind You – What About Me?
4. Genes of the Rich and Famous
5. Genealogy Gets Genetic
6. 12 Genes That Could Change Your Life
“Genome of DNA Pioneer is Deciphered” - This is a write-up by Nicholas Wade in the New York Times. Unfortunately, Mr, Wade used the word ‘deciphered’ in the article rather than ‘sequenced’. I’m not convinced that this was his choice, but he’s getting some flack for it. In any event, it appears that Watson’s sequence took 2 DVDs rather than just one! There’s a write-up at Nature News as well.
Additionally, the article states Dr. Craig Venter completed his own genome at the Venter Institute in Rockville, Md., and deposited in GenBank last week. There’s no way that the timing was coincidental; he obviously published his genome last week in order to beat Watson to the punch. According to a recent Nature News article (subscription only, here), an analysis of Venter’s genome will be described in a paper in the journal PLoS Biology, and he’s also writing a book, A Life Decoded: My Genome, My Life about his personal genome. The good news is that PLoS Biology is a free access journal, so the vast majority of the population who aren’t in academia can actually read and enjoy this article when it comes out! (In case you can’t tell, I’m a huge proponent of free and open publishing of data, especially that data funded with my tax dollars!!!).
Genetic Genealogy and the Amish
I am a genetic genealogist because I thought it would be a fun and interesting thing to do. Some people, however, are genetic genealogists because it is a matter of life and death.
The Amish/Mennonites and Genetic Disorders
The Amish migrated from Europe (Germany/Switzerland) to the United States in the 1700s. One such group, the Old Order Amish of Lancaster County, Pennsylvania, began with 200 Swiss immigrants. Today, there are roughly 200,000 Old Order Amish. Because of the difficult lifestyle, the lack of evangelism, and the language barrier, there is essentially no conversion to the Amish religion. In addition, marriage outside the community is forbidden. As a result, the community has remained closed for over 10 generations and is still using the same 200 genomes of their founders! This is known as “founder effect,” which means that a population is started by just a small number of individuals and as a result that new population will be different (both genetically and phenotypically) from the parent population, potentially with low genetic variation.
If I were to sequence the genomes of 200 individuals that I had somehow randomly selected, I would undoubtedly uncover a number of undesirable mutations hidden in their genes. Most of these mutations would not cause any detectable phenotype because these individuals would still have a healthy copy of the mutated gene (for the DNA newbies, we all carry 2 sets of 22 chromosomes plus 2 sex chromosomes, meaning that we have two copies of most genes).
Within the Amish populations, the mutated gene perpetuates and flourishes because it is never diluted into the general public. This means that it becomes increasingly likely that two individuals, both carrying a copy of the mutated gene, will marry and produce offspring. These children then have a random chance of inheriting two mutated copies of the gene.
Crigler-Najjar Syndrome
A recent article in USA Today, “Blue glow signifies life in peril in Pennsylvania Dutch country” analyzes the effect of one of the genetic diseases threatening the Amish. Crigler-Najjar syndrome is extremely rare, with only about 110 known cases in the entire world. Almost 20% of those cases are among the Amish and Mennonite in Pennsylvania.
People with Crigler-Najjar syndrome are unable to break down bilirubin, a natural waste product from old blood cells, and it builds to a toxic level in their blood. Untreated, the condition leads to brain damage and death. The afflicted, with yellowed eyes and golden skin as a result of their condition, are forced to spend 10 to 12 hours a day in bed underneath bright blue lights to… These beds cost about $1,000, and fans must be used to keep the children cool under the intensity of the lights. Although there is no cure, a liver transplant is one option.
The Clinic for Special Children
In 1990 a clinic opened in Straburg that specialized in children with rare diseases. The Clinic for Special Children was founded by Dr. Holmes Morton, who once worked with Dr. John Crigler, the physician who first described Crigler-Najjar syndrome in 1952 with Dr. Victor Najjar. The building, located on a site that was once an Amish field, was erected by 70 local men in the traditional barn-raising manner.
According to Wikipedia:
The clinic treats about 600 children for 80 different genetic disorders or syndromes such as glutaric aciduria (GA1), maple syrup urine disease (MSUD), Crigler-Najjar syndrome (CNS), and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Not all the children are Amish; about 15% of the caseload come elsewhere, including Africa and Asia. About 75% of the children are treatable—and a third of those are highly treatable, many through techniques developed at the center
There’s a great brochure available that provides an in-depth description of the Clinic. In 2006, Dr. Morton was awarded a MacArthur Foundation “genius grant” for his work. A well-deserved honor, if you ask me. Here is a list of some of the publications associated with the Clinic for Special Children. Here are some other articles about the Clinic, including the Genome News Network, the New York Times, Scienceline, Affymetrix, and here. For more information about the Amish/Mennonites and genetic disorders, see this brief review by Laura Weeks (pdf!).
Interestingly, there is a Swiss Anabaptist DNA Project at FTDNA, but unsurprisingly there are very few samples so far. Another interesting source of information about Amish/Mennonite genetic genealogy is the Yoder Family Website, which contains links to DNA testing by members of the Yoder Family.
Hsien at EyeonDNA wrote about this topic at Genetics and Health, and if you read the article, you’ll see that even her “doctorate genealogy” has a link back to Amish studies.
The Amish/Mennonites and Genetic Disorders
The Amish migrated from Europe (Germany/Switzerland) to the United States in the 1700s. One such group, the Old Order Amish of Lancaster County, Pennsylvania, began with 200 Swiss immigrants. Today, there are roughly 200,000 Old Order Amish. Because of the difficult lifestyle, the lack of evangelism, and the language barrier, there is essentially no conversion to the Amish religion. In addition, marriage outside the community is forbidden. As a result, the community has remained closed for over 10 generations and is still using the same 200 genomes of their founders! This is known as “founder effect,” which means that a population is started by just a small number of individuals and as a result that new population will be different (both genetically and phenotypically) from the parent population, potentially with low genetic variation.
If I were to sequence the genomes of 200 individuals that I had somehow randomly selected, I would undoubtedly uncover a number of undesirable mutations hidden in their genes. Most of these mutations would not cause any detectable phenotype because these individuals would still have a healthy copy of the mutated gene (for the DNA newbies, we all carry 2 sets of 22 chromosomes plus 2 sex chromosomes, meaning that we have two copies of most genes).
Within the Amish populations, the mutated gene perpetuates and flourishes because it is never diluted into the general public. This means that it becomes increasingly likely that two individuals, both carrying a copy of the mutated gene, will marry and produce offspring. These children then have a random chance of inheriting two mutated copies of the gene.
Crigler-Najjar Syndrome
A recent article in USA Today, “Blue glow signifies life in peril in Pennsylvania Dutch country” analyzes the effect of one of the genetic diseases threatening the Amish. Crigler-Najjar syndrome is extremely rare, with only about 110 known cases in the entire world. Almost 20% of those cases are among the Amish and Mennonite in Pennsylvania.
People with Crigler-Najjar syndrome are unable to break down bilirubin, a natural waste product from old blood cells, and it builds to a toxic level in their blood. Untreated, the condition leads to brain damage and death. The afflicted, with yellowed eyes and golden skin as a result of their condition, are forced to spend 10 to 12 hours a day in bed underneath bright blue lights to… These beds cost about $1,000, and fans must be used to keep the children cool under the intensity of the lights. Although there is no cure, a liver transplant is one option.
The Clinic for Special Children
In 1990 a clinic opened in Straburg that specialized in children with rare diseases. The Clinic for Special Children was founded by Dr. Holmes Morton, who once worked with Dr. John Crigler, the physician who first described Crigler-Najjar syndrome in 1952 with Dr. Victor Najjar. The building, located on a site that was once an Amish field, was erected by 70 local men in the traditional barn-raising manner.
According to Wikipedia:
The clinic treats about 600 children for 80 different genetic disorders or syndromes such as glutaric aciduria (GA1), maple syrup urine disease (MSUD), Crigler-Najjar syndrome (CNS), and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Not all the children are Amish; about 15% of the caseload come elsewhere, including Africa and Asia. About 75% of the children are treatable—and a third of those are highly treatable, many through techniques developed at the center
There’s a great brochure available that provides an in-depth description of the Clinic. In 2006, Dr. Morton was awarded a MacArthur Foundation “genius grant” for his work. A well-deserved honor, if you ask me. Here is a list of some of the publications associated with the Clinic for Special Children. Here are some other articles about the Clinic, including the Genome News Network, the New York Times, Scienceline, Affymetrix, and here. For more information about the Amish/Mennonites and genetic disorders, see this brief review by Laura Weeks (pdf!).
Interestingly, there is a Swiss Anabaptist DNA Project at FTDNA, but unsurprisingly there are very few samples so far. Another interesting source of information about Amish/Mennonite genetic genealogy is the Yoder Family Website, which contains links to DNA testing by members of the Yoder Family.
Hsien at EyeonDNA wrote about this topic at Genetics and Health, and if you read the article, you’ll see that even her “doctorate genealogy” has a link back to Amish studies.
Genetic Genealogy In the News
There is so much information about genetic genealogy in the news right now that I am having a hard time keeping up. That, of course, is good news. So here is a round-up of some of the best from the web:
“Seeking Columbus’s Origins, With a Swab” is an article in today’s New York Times (HT: Liz). Scientists and genetic genealogists hope to use Y-DNA to compare DNA that might be Columbus’s to modern-day people with a related surname.
“Genetic Genealogy Mildly Hot” is a post by Hsien at Eye On DNA that explains why “family tree dna” was one of the top 100 searches at Google Trends yesterday. Got a guess?
In “60 Minutes on DNA: Deja Vu All Over Again“, Megan Smolenyak looks at Sunday’s 60 Minutes segment about genetic genealogy. It’s a brilliant post, especially with the following sentence:
“Since I’ve been watching this same formula repeat itself since 2001, I’ve developed a pet peeve about the built-in, patronizing assumption that genealogists are too dense to understand the fundamentals of what DNA can and can’t do — rather than the reality that we’re pioneers delighted with the prospect of learning what had previously been unknowable and well aware of the limitations.”
We’re pioneers, people! If there is anyone being tested who doesn’t understand the limitations of genetic genealogy, then they’re not reading The Genetic Genealogist, or Megan’s Roots World.
There’s some new information about 23andMe’s latest round of venture capital funding.
“Genomics: The Personal Side of Genomics” is a round-up by Nature of some of the latest innovations in DNA sequencing. A nice discussion of some aspects of The Personal Genome Project (HT: Brian).
“The DNA Cracker: Closing the Book on Jack” is an article about using DNA databases to find relatives and identify potential suspects for criminal investigations. The article is also largely about Bryan Sykes, the founder of Oxford Ancestors (HT: Hsien).
And finally, the Sorenson Molecular Genealogy Foundation (SMGF) has announced that its DNA database will expand by at least 30,000 samples this year, due to expansive collection projects in a number of regions around the world.
“Seeking Columbus’s Origins, With a Swab” is an article in today’s New York Times (HT: Liz). Scientists and genetic genealogists hope to use Y-DNA to compare DNA that might be Columbus’s to modern-day people with a related surname.
“Genetic Genealogy Mildly Hot” is a post by Hsien at Eye On DNA that explains why “family tree dna” was one of the top 100 searches at Google Trends yesterday. Got a guess?
In “60 Minutes on DNA: Deja Vu All Over Again“, Megan Smolenyak looks at Sunday’s 60 Minutes segment about genetic genealogy. It’s a brilliant post, especially with the following sentence:
“Since I’ve been watching this same formula repeat itself since 2001, I’ve developed a pet peeve about the built-in, patronizing assumption that genealogists are too dense to understand the fundamentals of what DNA can and can’t do — rather than the reality that we’re pioneers delighted with the prospect of learning what had previously been unknowable and well aware of the limitations.”
We’re pioneers, people! If there is anyone being tested who doesn’t understand the limitations of genetic genealogy, then they’re not reading The Genetic Genealogist, or Megan’s Roots World.
There’s some new information about 23andMe’s latest round of venture capital funding.
“Genomics: The Personal Side of Genomics” is a round-up by Nature of some of the latest innovations in DNA sequencing. A nice discussion of some aspects of The Personal Genome Project (HT: Brian).
“The DNA Cracker: Closing the Book on Jack” is an article about using DNA databases to find relatives and identify potential suspects for criminal investigations. The article is also largely about Bryan Sykes, the founder of Oxford Ancestors (HT: Hsien).
And finally, the Sorenson Molecular Genealogy Foundation (SMGF) has announced that its DNA database will expand by at least 30,000 samples this year, due to expansive collection projects in a number of regions around the world.
Links From The Genetic Genealogist
In order to clean out posts I’ve been saving in Google Reader (does anyone else keep posts in Reader until you’ve blogged about them?), I decided to have a potpourri day. The following are links to interesting articles around the blogosphere. And Happy Halloween!
Pedro at Public Rambling has The Fortune Cookie Genome, a ’science fiction’ post about picking up the results of his whole genome scan from his genetic advisor. Of course, it’s only science ‘fiction’ until it’s science ‘reality’!
The Women’s Bioethic Project has an article about DNA Testing Without Consent, which asks whether there should be a ‘reverse’ statute of limitations for testing DNA from famous dead people. The article was written in response to a recent story in Parade. I talked about this briefly back in August (see “DNA From the Dead“), and I’m working on a post about “Discarded DNA and the Constitution”, so stick around. HT: Eye on DNA.
Tim at Genealogy Reviews Online continues his review of DNA Ancestry with DNA Ancestry Review Part 2. In this installment, Tim describes the DNA collection process.
At The Tree of Life, Jonathan Eisen presents the Overselling Genomics award to Newsweek as a result of their “10 Hottest Nerds” story. Personally, I think any story that brings science to the masses in an connectable way is beneficial, but I agree that the lack of women on the list was a huge oversight.
At genomeboy.com, Misha Angrist dissects the recent Portfolio piece about personal genomics companies such as 23andMe and Navigenics. He also highlights that familiar $12.5 billion “potential market” quote. I wish I knew who and how that number has come from.
And finally, Alan Boyle at Cosmic Log writes about The Secrets in Your Genome, which is about the International HapMap Consortium’s latest release:
Pedro at Public Rambling has The Fortune Cookie Genome, a ’science fiction’ post about picking up the results of his whole genome scan from his genetic advisor. Of course, it’s only science ‘fiction’ until it’s science ‘reality’!
The Women’s Bioethic Project has an article about DNA Testing Without Consent, which asks whether there should be a ‘reverse’ statute of limitations for testing DNA from famous dead people. The article was written in response to a recent story in Parade. I talked about this briefly back in August (see “DNA From the Dead“), and I’m working on a post about “Discarded DNA and the Constitution”, so stick around. HT: Eye on DNA.
Tim at Genealogy Reviews Online continues his review of DNA Ancestry with DNA Ancestry Review Part 2. In this installment, Tim describes the DNA collection process.
At The Tree of Life, Jonathan Eisen presents the Overselling Genomics award to Newsweek as a result of their “10 Hottest Nerds” story. Personally, I think any story that brings science to the masses in an connectable way is beneficial, but I agree that the lack of women on the list was a huge oversight.
At genomeboy.com, Misha Angrist dissects the recent Portfolio piece about personal genomics companies such as 23andMe and Navigenics. He also highlights that familiar $12.5 billion “potential market” quote. I wish I knew who and how that number has come from.
And finally, Alan Boyle at Cosmic Log writes about The Secrets in Your Genome, which is about the International HapMap Consortium’s latest release:
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