Potential Regulation of DTC Genetic Testing Angela Torney Genomics and Medicine Douglas Brutlag 1 December 2008 Final Paper As direct to consumer DTC genetic testing services rise in popularity and prevalence greater federal oversight of the system has become necessary in order to protect consumers Proponents of DTC testing argue that removing the necessity of passing through a medical professional allows consumers increased autonomy freer access to their results and enhanced privacy However critics argue that the government should monitor the system because without regulation consumers might receive results without adequate context Consumers may base pivotal life decisions on the information received from genetic tests including whether to have children take certain types of medications or take part in treatments so ensuring that the information received by consumers is accurate should be a system subject to extensive federal regulation The FTC and certain divisions of Health and Human Services such as the CMS CDC and FDA are responsible for regulating the system but at this point the federal government only formally monitors the quality of genetics testing facilities In order to protect consumers the federal regulatory system must exercise increased oversight in areas of lab quality control test validity and reliability availability of adequate genetic counseling and accuracy of advertising The federal government must regulate the quality of genetic testing labs to ensure the analytic validity of tests Currently the 1988 Clinical Laboratory Improvement Act CLIA ensures the accuracy reliability and timeliness of patient test results CLIA which is administered by the Centers for Medicare Medicaid Services CMS imposes basic requirements that address personnel qualifications quality control standards and documentation and validation of tests and procedures Javitt 59 To some extent CLIA helps ensure the analytic validity of tests and the act ensures that tests deliver accurate information as to whether a mutation is present or not However no special standards or specific procedures apply to genetic testing facilities except for labs which conduct cytogenetic tests for chromosomal abnormalities such as Down s syndrome In the future many organizations propose that regulations should be modified to create specific standards and ensure total quality control In 2006 three organizations including the Genetics and Public Policy Center GPPC petitioned CMS to issue updated standards for genetic testing labs but CMS denied the petition on the basis of cost concerns in 2007 Huang Who For most high complexity tests CLIA requires facilities to undergo specialized proficiency testing but even though genetic testing is considered high complexity CMS has not created special requirements for genetic testing Although genetic testing facilities are already monitored by CMS under CLIA many organizations have argued that creating requirements specific to genetic testing labs will ensure higher quality control Beyond ensuring the analytic validity of tests through regulating the quality of genetic testing facilities the clinical validity and reliability of tests should also be regulated by the federal government The Federal Food Drug and Cosmetic Act grants the FDA the authority to regulate medical devices which are defined as articles intended for use in the diagnosis of disease or other conditions or in the cure mitigation treatment or prevention of disease Huang FDA However at the moment the FDA distinguishes between lab developed genetic tests and genetic test kits and the organization only regulates genetic test kits External manufacturers create and distribute test kits as a single unit and these are considered medical devices and therefore regulated by the FDA Lab developed genetic tests on the other hand are not subject to regulation because they are made within labs and considered in house tests The American Society of Human Genetics proposes that the FDA should be involved in the regulation of genetic tests whether they are packaged and sold as kits or provided as a laboratory service Hudson 1 Because the majority of DTC tests are considered lab developed tests the FDA should expand regulations to cover lab developed tests as a way of ensuring the clinical validity of DTC tests As it is the FDA believes that lab developed tests fall outside of its jurisdiction and therefore does not monitor whether the results of DTC genetic tests correlate with the presence absence or heightened risk of a disease Assessing clinical validity is crucial because this determines whether genetic tests are accurate predictors of disease or other conditions Another area in which increased federal oversight might benefit consumers is in ensuring that adequate genetic counseling is associated with DTC testing The nature of DTC testing is to bypass physicians and only several companies provide clients with genetic counselors to help them interpret their results including Navigenics In a service provided by AtlasGene described in the New York Times parents subject their toddlers to ACTN3 testing in order to figure out whether their children will excel at endurance or fast twitch sports However experts say that without the help of a genetic counselor parents may not realize that athletic performance has been found to be affected by at least 200 genes Macur 1 Because consumers may not necessarily understand how to interpret their test results many organizations strongly suggest implementing regulations mandating that adequate genetic counseling be made available to DTC genetic testing customers The American Society of Human Genetics proposes that the CDC might conduct a study on the impact of DTC testing on consumers to assess to what extent consumers are benefiting or being harmed from a mode of delivery without the advice of a medical professional Hudson 1 In addition the organization suggests that the FTC should require companies to disclose all risks associated with testing including psychological risks to individuals and family members Genetic counseling should be made available because many consumers may base life defining decisions on the information received from DTC tests such as whether to have children or take part in treatment for a medical condition In order to make sure that consumers are making informed decisions when they act on their genetic test results many organizations propose that the federal
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