I attended two excellent teleconferences sponsored by the Genetic Alliance.
One gave information on CLIA (Clinical Laboratories Improvement Amendment) and CLIAC (the committee who provides recommendations) and the move to implement a genetic testing speciality within its regulation. CLIAC recently gave notice that it will be proposing standards for genetic testing under the CLIA law. CLIAC reviewed all the comments it received on the public notice and is currently formulating a proposed rule to be released for comment at the end of this year or early next year. Learn more about CLIA and about CLIAC.
One of the things explained during the conference was why standards take so long to develop and implement. Rules--the word is a formal one--are the standards that tell how a law will be implemented. For example, the Clean Air Act regulates activities of manufacturers, cities, etc. through a series of rules. The rule proposed through CLIAC (as part of the Centers for Disease Control and the Department of Health and Human Services) will describe how genetics laboratories offering services to the public must function. You probably don't know it, but everytime a physician sends out a sample of your blood for testing, it must go to a CLIA-certified labroatory. So, physicians who send out samples for genetic testing to a CLIA-certified lab are just following the existing general rules about clinical tests. CLIAC's intent is to identify the specific needs of genetic testing that are different from other clinical laboratory testing and functioning.
The ones who don't have to follow the CLIA rules are the ones who receive test requests over the Internet or by phone directly from consumers. If you check the sites advertised along the side of your screen when you check out genetic testing laboratories, you'll find plenty who do not list CLIA certification as one of their qualifications.
The second teleconference I attended discussed information on CETT--the Collaboration, Education, and Test Translation Program from the Office of Rare Diseases (ORD). In May of 2004 this group met for the first time to discuss quality testing for rare genetic diseases. they met last in September 2005 and are currently accepting applications for new genetic tests. Their objectives are to foster the development of new genetic tests, help groups translate tests from research to clinical practice, and educate the public about rare genetic diseases. The special feature of this group is the strong sense of collaboration among clinical laboratories, researchers, and patient advocacy groups. You can learn more about CETT at http://www.cettprogram.org.
The Genetic Alliance helps patient advocacy groups with all aspects of their work, including working with patients, with media, education, obtaining and dispensing funding, and many other opportunities. They are very involved in public policy, as is geneforum, the group sponsoring this website and blog.
Marie Godfrey, PhD
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I have been working lately with the Genetic Alliance to formulate priorities for their action. The group serves as advocates for patients with a wide variety of genetic conditions. As part of their work, the Genetic Alliance recently sent the following letter:
Letter to CMS Administrator Mark McClellan regarding genetic testing quality
February 28, 2006
Dear Dr. McClellan:
On behalf of the Genetic Alliance board of directors, I am writing to urge you to issue proposed regulations for a genetic testing specialty under the Clinical Laboratory Improvement Amendments (CLIA) of 1988.
As knowledge of genetics continues to grow and the number of genetic tests made available to consumers increases, the U.S. government has an obligation to maintain a regulatory framework that ensures the safety and utility of the tests being conducted without limiting the accessibility of those tests. To this end, in 2000 the Centers for Disease Control and Prevention (CDC) issued a Notice of Intent indicating that the Centers for Medicare and Medicaid Services (CMS) would be issuing a proposed rule based on stakeholders’ comments received and elucidated by the CDC. More than five years later, no such rule has been issued, and the genetic testing specialty that was recommended has not been established.Â
The Genetic Alliance board of directors believes that the establishment of a genetic testing specialty under CLIA is a necessary first step toward a regulatory system that encourages new technology and ensures safety and accuracy when those technologies are implemented. Since the CDC issued its Notice of Intent more than five years ago, the number of genetic tests available has increased substantially. Today, there are more than 900 diseases for which genetic tests are clinically available, several hundred used in research, and even more in various stages of development. Without a genetic testing specialty, CLIA cannot adequately ensure that consumers receive genetic testing services that are safe, accurate, and clinically useful.
I urge CMS to act quickly by issuing proposed regulations for a genetic testing specialty under CLIA. I welcome the opportunity to meet with you and discuss these issues in further detail.
Sincerely,
Sharon F. Terry, M.A.
President and CEO
 There are two key aspects to testing quality: 1) performing the tests accurately and within established regulations and 2) having tests that actually test what they say they're testing. The first aspect is addressed by the letter above. The second aspect, developing and making tests available for both rare and common genetic conditions, is also an Alliance focus.
If you're interested in the activities of the Genetic Alliance, check out their website at: http://www.geneticalliance.org/. Â
Marie Godfrey, PhDÂ
You may be surprised to learn that the government agency most responsible for "regulating" genetic testing is the FTC--the Federal Trade Commission. This group regulates advertising. If a company claims to do something they do not do, the FTC can intervene. However, the FTC has little control over the Internet and--contrary to its normal influence on other advertising--does not link with the FDA (Food and Drug Administration) to require that advertisers send out "Dear Doctor letters" to correct false advertising that appears on television or in print.
What controls are there?
The FDA, which oversees prescription and generic drugs as well as foods, does not review and approve genetic tests unless they are true medical devices--something that either must be provided by a physician (such as a heart pump) or directly diagnoses a condition (such as home HIV testing). The FDA considers most genetic testing "home brew". The FDA's extent of involvement then becomes the same as its involvement in any food or drug--no applications and approvals, but the FDA can insist that a product be removed from store shelves (e.g., ephedra) if it is shown to potentially cause harm. Psychological harm from false advertising is not included.
DNA tests and genetic tests, by the way, are considered "nonmedical tests", meaning that the results do not indicate a clinical condition that can be dealt with in a physician's office or hospital. Medical tests include blood cell counts, chemistry analysis, urinalysis, tissue examination. Newborn genetic testing is medical testing, since the tests look for the accumulation of specific substances in the blood. DNA testing (forensic, paternity, genealogical) and genetic testing for specific genes and/or mutations are nonmedical tests.
The most strict oversight of genetic testing laboratories comes from organizations that accredit and approve laboratories. Among these are the AABB (American Association of Blood Banks), CAP (College of American Pathologists), CLIA (Clinical Laboratory Improvement Amendments and CLIAC, Clinical Laboratory Improvement Amendments Committee), and ISO (International Organisation for Standards, specifically ISO 17025 for laboratories). All of these organizations offer voluntary accreditations for testing laboratories; only AABB specifically identifies accreditation for DNA testing (but not other genetic testing). The following URLs get you to the home page of these organizations:
http://www.aabb.org/Content/Accreditation/Parentage_Testing_Accreditation_Program/ptprog.htm
http://www.cap.org/apps/cap.portal?_nfpb=true&_pageLabel=accreditation
http://www.phppo.cdc.gov/clia/default.aspx
http://www.qualico.co.uk/html/iso_17025_lab_requirements.html
None of these organizations has any regulatory clout; they can only refuse or revoke accreditation. The closest to regulatory clout is the CDC (Centers for Disease Control), a federal agency that is primarily concerned with the spread of infectious diseases (influenza, sexually-transmitted, food poisoning).
Some states require that forensic or parental DNA testing be conducted by specific laboratories for the results to be considered acceptable in legal cases.
The Genetic Alliance, a group coordinating the activities of hundreds of support groups for specific genetic conditions, recently requested that standards for genetic testing be set and enforced by CMS (Centers for Medicare and Medicaid Services).
If you're thinking of DNA or genetic testing, check whether the company you are considering advertises accreditation by one or more of these organizations. Then--if you can--check to see whether the accreditation is current. This is possible for AABB by going to http://www.aabb.org/Content/Accreditation/Parentage_Testing_Accreditation_Program/AABB_Accredited_Parentage_Testing_Laboratories/ . None of the other organizations provide similar lists, but you can ask the company you are interested in by calling their toll-free number.
Whatever you do, remember the old adage: Buyer beware!
Marie Godfrey, PhD