Governmental Regulation of Genetic Genealogy Tests?

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?

DNA Testing Jumps During Black History Month

With the arrival of Black History Month and following on the heels of PBS’s popular series ‘African American Lives’, increasing numbers of African Americans are deciding to explore the world of DNA testing and genetic genealogy. As a result many newspapers and magazines are taking the opportunity to introduce their readers to this increasingly popular avenue of genealogical research.
The Rocky Mountain News in Denver, Colorado is currently three articles into a six-part series examining the role and effect of genetic genealogy in African American research [Thanks to Genealogy Reviews Online]:
Saturday, 17 February 2007 (Two articles, here and here).Monday, 19 February 2007Tuesday, 20 February 2007Wednesday, 21 February 2007Thursday, 22 February 2007Friday, 23 February 2007
Fortune Magazine published an article, ‘Tracing African Roots Through DNA’, on February 16th in which the author uses the DNA testing firm African Ancestry to analyze his mtDNA and Y chromosome. The article also describes the (positive) psychological effects the results have on himself and his family.
Another magazine, Diverse: Issues in Higher Education has an older article, ‘Regaining a Lost Heritage‘. The author of this article also tests her mtDNA through African Ancestry. Interestingly, the author cites Dr. Bruce A. Jackson, Co-director of the African-American DNA Roots Project at the University of Massachusetts Lowell. Dr. Jackson explains his skepticism of African Ancestry’s ability to pinpoint a person’s mtDNA or Y chromosome ancestry to a single ethnic or geographic group because the databases are still so small. African Ancestry, however, contends that their DNA database is 5 times larger than any other comparable databases.

From the NYT: DNA Tests Offer Immigrants Hope or Despair

Although the article in today’s New York Times - “DNA Tests Offer Immigrants Hope or Despair” by Rachel L. Swarns - uses traditional paternity or maternity tests and not genetic genealogy tests, the emotional results of the tested can often be the same. What if DNA proves that your father isn’t your biological father? What happens when there is uncontestable proof that there was an NPE (non-paternal event) in your great-grandfather’s ancestry?
According to the article, federal officials in the Immigration Department are using “genetic testing to verify the biological bonds between new citizens and the overseas relatives they hope to bring here, particularly those from war-torn or developing countries where identity documents can be scarce or doctored.”
For example, Isaac has been in the U.S. away from his native Ghana and his four boys for 14 years. When he became an American citizen and the Immigration Department suggested that he take a DNA test to prove the biological relationship to his four sons, he agreed. Unfortunately, only the oldest boy was his biological child. That child could come to the U.S., but Isaac would have to find another way to bring over the other three children.
How often does this happen? “Mary K. Mount, a DNA testing expert for the A.A.B.B. - formerly known as the American Association of Blood Banks - estimates that about 75,000 of the 390,000 DNA cases that involved families in 2004 were immigration cases. Of those, she estimates, 15 percent to 20 percent do not produce a match.” That’s over 10,000 cases in one year alone!
Interestingly, many lawyers working with immigrants believe that the government’s use of DNA testing burdens immigrants because of the high price of the testing - as much as $450 to test a parent and child. As well, federal officials “acknowledge that genetic testing can carry an emotional toll.”
This is true for any type of testing, be it a paternity test, an mtDNA test, or (someday) a full genomic sequencing. Everyone has a picture of their own past in their mind, a collection of beliefs and identities that they’ve learned or heard or perhaps have made up. Evidence of another past based on DNA can often shatter those beliefs.
As these families struggle to come to terms with the results of the testing, they often come to the conclusion that the biological definition of family is not the only definition available. My favorite line in the story comes from Balfour Francis, a 44-year-old Jamaican-born welder in Brooklyn who is trying to have his daughter join him in America. After the DNA test showed that he is not the girl’s father, he stated, “I will not let anybody dictate who is my child.” Although the results can be painful and have a severe emotional toll, they do not change the love a parent has for a child.
As for Isaac, his immigration lawyer determined “that he could petition for the teenagers as their stepfather. He must prove that the boys are the children of his deceased wife. Isaac hopes that a DNA test of one of his wife’s siblings, which could be compared with that of the teenagers, would provide that proof.”
I highly recommend reading this article if you are interested in DNA testing. I’m sure that this will spark another wave of insightful and interesting discussion on the blogosphere, similar to the very controversial article I discussed previously here.

Using DNA Testing

DNA testing is by far the most effective and accurate means by which a biological relationship can be said to exist between one person and another. Whether that be through traditional paternity testing or alternatively testing some more distant relationship (usually in order to determine paternity), such as avuncular testing or grandparentage testing, there are a number of significant reasons for using DNA testing where disputes or potential discrepancies arise. Whilst there is a minimal margin for error in any testing, DNA testing is the most accurate form of establishing relationships available, which makes it ideal for use in a number of scenarios.
Legal Use One of the most common uses for DNA testing is for legal reasons. There are a number of legal scenarios where paternity, or family relationships become important to the outcome of a case. Whether that be an intestate inheritance dispute, where determining family relationships could have a significant bearing on the execution of a particular estate, or some child law reason, DNA testing is one of the most accurate ways of picking up on genetic relationships which can provide the necessary proof for determining the correct legal outcome. As a result of its increased effectiveness over other methods of detection, nothing compares to DNA testing for accurately determining family relations.
Medical Use Medical use is the other major field of practice for DNA testing. In medical situations, it can often be important to determine biological relationships in determining potential exposure to certain genetic conditions and in matching suitability for certain treatments. As medical research continues to advance, so too DNA testing becomes more high profile and more widely used in general practice as a far more conclusive way of identifying family relationships where is matters most.
"Curiosity" Testing Whilst testing doesn't usually require maternal DNA samples, the at-home, or so-called Curiosity test is a good way to get peace of mind or to determine with some conclusivity whether or not you share a family relationship with another person - mostly a child. By testing oral swabs through a DNA testing kit normally sent to the client, the at-home testing is both easy to effect and accurate in producing results for determining DNA links where paternity is in question. For personal reasons or just for the sheer curiosity, the at-home test is far less controlled by protocol, but nevertheless can come up with accurate results where a particular relationship exists.
DNA testing is becoming more and more available, as the most accurate means of testing relationships. Where there is at least some degree of relationship, there is nothing more effective at determining genetic relationships than DNA testing, particularly in light of the advances in testing technology in recent years. From paternity testing through to siblingship testing and even grandparentage testing, using a DNA test can be a cost-effective and accurate way to determine whether or not alleged relationships do in fact exist. With that in mind, DNA testing should be your first choice of action should a family disputes arise on a biological relationship.