Direct to Consumer Genetic Testing
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An overview of the current regulatory environment. *This is not legal advice and is written by a non-attorney. This is general information from a student in law school (MSJ program).
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Direct to Consumer Genetic Testing
- 1. Current Regulatory Considerations Direct to Consumer Genetic Testing
- 2. › 2006 to present wealth of genetic information has come to light – Genome Wide Assessment Studies (GWAS)- Four advancements made it possible 1 › Human Genome Project and HapMap Project › High throughput genotyping technology for single nucleotide polymorphism (SNP) 2 › DNA data of large populations afflicted with conditions or disease › Collaboration between researchers and journals to identify markers for disease Direct to Consumer (DTC) Genetic Testing
- 3. › Three regulating bodies of genetic testing. One is the chief regulating body concerning our interest in DTC genetic testing. – Centers for Medicare and Medicaid Services › Regulates genetic testing in a general sense by providing accreditation of laboratories. › Clinical Laboratory Improvement Amendments of 1988 (CLIA) – Federal Trade Commission (FTC) › Regulates false and deceptive advertising › Unfair methods of competition unlawful; prevention by Commission, 15 U.S. Code § 45 Regulatory Bodies
- 4. › Three regulating bodies of genetic testing. One is the chief regulating body concerning our interest in DTC genetic testing (continued). › Main regulating body is the Food and Drug Administration (FDA) – Chief legislation that guides the regulating of medical devices is › Medical Devices Amendments of 1976 to the Federal Food, Drug, and Cosmetic Act, 21 U.S. Code § 360c › Federal Food, Drug, and Cosmetic Act , 21 U.S.C. ch.9, § 321(h) – “Section 201(h)” is the most referred portion. – Classifies medical devices into class I, II, III with I being least restrictive do to low danger (e.g. tongue depressors) and III being most restrictive due to higher probability of danger such as implantable devices such as automated insulin pumps. – Class II devices are items such as motorized wheelchairs and home pregnancy test kits. › Most common comprising of 43% of medical devices. 3 Regulatory Bodies (continued)
- 5. › Main regulating body is the Food and Drug Administration (FDA) continued – Final note- In order to not recreate the wheel, if a device is “substantially equivalent” to one already on market, it can be placed on the market without additional test. 3 › Requires pre-approval first! Section 501(k) Food, Drug and Cosmetic Act › Must notify of intent and show that it is substantially equivalent › If not deemed substantially equivalent to device on market, then – Submit pre-market approval (PMA) with scientific evidence which may include human trials for safety Regulatory Bodies (continued)
- 6. – Genetic testing company marketed $99 test – Mail in a saliva sample and be tested for “hundreds of things about your health”. 4 – Used SNP test markers that they claimed indicated potential predisposition of 254 diseases. 4 – Meant to empower customers to take preventative measures – Also allowed customers to detect early signs of disease – TV commercial advertised “Change what you can, manage what you can’t”. 4 23andMe 5
- 7. – 23andMe placed their device on the market without preapproval – For five years, they remained in talks with the FDA under the 501(k) – Over 100 e-mails and written correspondences were exchanged – Met face to face with FDA officials (including video conferencing) – Process broke down when 23andMe ignored FDA with no communications for over 18 months 7 – 23andMe believed it was the consumers right to know about their DNA and potential risks 23andMe Goes Rogue 6
- 8. – FDA did not seem so concerned with the test – More concerned with the analysis and providing advice 7 › Questions raised about false positives or negatives › Advice could lead to consumers to take drastic measures such as pre-emptive mastectomies to avoid breast cancer › Could lead to false hope or mental anguish using unproven science from newer studies showing correlation instead of causation – Finally the FDA sent a final warning letter to 23andMe › Threatened “seizure, injunction, and civil money penalties” – 23andMe pulled product – Currently two lawsuits pending against 23andMe- both seeking class-action. 9 23andMe Goes Rogue (continued)
- 9. – 23andMe is seeking to offer the test abroad › Already available in Canada and the United Kingdom – Still offers ancestry testing which is not under the purview of FDA – FDA approves 23andMe to offer testing for “Bloom Syndrome”8 23andMe Today
- 10. – Know the FDA rules › Do not attempt to go “rogue” – Are their “substantially equivalent” devices on market? › List can be found at http://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagno stics/ucm330711.htm – Offer kits that test for certain/ specific conditions – Offer test kits with information forwarded to a physician 4 › especially as electronic health records allow for patients to see their own test results even without seeing physician › FDA and National Institute of Standards and Technology (NIST) creating databank of information Ways This Firm Can Legally Launch DTC Genetic Testing
- 11. QUESTIONS?
- 12. 1 Helgason, Agnar, and Kári Stefánsson. "The Past, Present, and Future of Direct-to-consumer Genetic Tests." Dialogues in Clinical Neuroscience. Les Laboratoires Servier, 12 Mar. 2010. Web. 26 Sept. 2015. 2 Tsuchihashi, Z., and N C Dracopoli. "Progress in High Throughput SNP Genotyping Methods." The Pharmacogenomics Journal (2002): 103-10. Print. 3 U.S. Food and Drug Administration. “Learn If a Medical Device Has Been Cleared by FDA for Marketing”. Food and Drug Administration, 6 June 2014. Web. 27 Sept. 2015. 4 Annas, George, and Sherman Elias. "23andMe and the FDA." New England Journal of Medicine, 29 Mar. 2014. Web. 25 Sept. 2015. <http://www.nejm.org/doi/full/10.1056/nejmp1316367>. 5 "23andMe logo" by 23andMe - http://markboguski.net/docs/publications/GuideTo23andMe_v1.pdf. Licensed under Public Domain via Commons - https://commons.wikimedia.org/wiki/File:23andMe_logo.svg#/media/File:23andMe_logo.svg 6 Downing, Nicholas S., and Joseph S. Ross. "Innovation, Risk, and Patient Empowerment: The FDA-mandated Withdrawal of 23andMe’s Personal Genome Service." Journal of the American Medical Association 311.8 (2014): 793. 7 Dobbs, David. "The F.D.A. vs. Personal Genetic Testing - The New Yorker." The New Yorker. 27 Nov. 2013. Web. 25 Sept. 2015. <http://www.newyorker.com/tech/elements/the-f-d-a-vs-personal-genetic-testing>. 8 "FDA Permits Marketing of First Direct-to-consumer Genetic Carrier Test for Bloom Syndrome." U.S. Food and Drug Administration, 19 Feb. 2015. Web. 27 Sept. 2015. 9 Convey, Eric. "Women Sue 23andMe over Marketing Claims." Boston Business Journal, 20 Dec. 2013. Web. 26 Sept. 2015. <http://www.bizjournals.com/boston/news/2013/12/19/women-sue-w23andme-over-marketing-claims.html>. and Casey vs. 23andMe Inc. Case 3:13-cv-02847-H-JMA 10 Humer, Caroline. "After Canada, UK, 23andMe Wants DNA Test Growth Abroad." Thomson Reuters, 15 Jan. 2015. Web. 26 Sept. 2015. <http://www.reuters.com/article/2015/01/15/us-healthcare-23andme-international-idUSKBN0KO20F20150115>. References
Editor's Notes
- In the past few years, Direct to Consumer Genetic Testing has grown due to the vast amounts of new knowledge made possible through genome wide assessment studies (GWAS) thanks to the advancement in four key areas. This first advancement is obvious with two projects that have mapped the human genome called the Human Genome Project as well as the multi-country International HapMap Project which a thorough discussion is beyond the scope of todays presentation. The second and also equally important development that has allowed DTC Genetic Testing to increase in scope is the technological advances of being able to decipher and read what is called single nucleotide polymorphism or “SNP” for short. Through what is called generically as “high throughput genotyping technology”, scientist are able to did into SNP at rates that far exceed older methods. Again, this presentation is not the correct format for delving deeply into this information. The final two are the data sets of DNA consisting of large populations with conditions and diseases and the collaboration of data holders, scientist, and of course the journaling and dissemination of this data through peer-reviewed journals.
- There are several regulatory bodies that regulate genetic testing as a whole. While the first two listed here are important to the industry as a whole, the second will only slightly pertain to us as a company. The first deals with certifying laboratories. If we decide to move ahead with our proposal to enter this firm, we will use a certified laboratory. The second is important as what is advertised must not be deceptive to the customer. However, the third agency we are going to address in the next slide will encompass the FTC requirements as it deals directly with claims made and services performed.
- The chief agency of concern for DTC genetic testing is the Food and Drug Administration or FDA. Medical devices are largely governed initially under several different laws. The first is the Medical Devices Amendments of 1976 to the Federal Food, Drug, and Cosmetic Act, 21 U.S. Code § 360c. The second law is known in inner circles as Section 201(h) although the actual law is found under the Federal Food, Drug, and Cosmetic Act , 21 U.S.C. ch.9, § 321(h). This portion of the law is what classifies medical devices into three different classes with class one being the least stringent and deemed safest such as tongue depressors and the most restrictive being class three which are devices such as heart stints. The most common device are the middle-tiered class-two devices which encompasses nearly half of all medical devices. These are devices that include motorized wheelchairs and other common medical devices that pose minimal to moderate risks to a patient.
- In order to avoid reinventing the wheel for anyone wishing to compete with an already existing device, any device that is substantially equivalent to a device on the market may be pre-approved to market their device. However, the keyword is “pre-approval”. Under section 501(k) if the Food, Drug and Cosmetic Act, a device manufacturer may submit an application to the FDA and garner approval if it can show that their device is essentially the same or equivalent as one on the market already. However, if the FDA deems it is not substantially equivalent, then a pre-market approval application must be submitted with scientific evidence which may include human trials. Next we will discuss a company that did not do things the way the FDA mandates and the consequence of such decision.
- 23andMe is a genetic testing company that was marketing a $99 test where a customer could send in a saliva sample and be tested for “hundreds of things about your health”. Using saliva, the company used SNP to test for markers that may indicate potential predisposition of 254 diseases ranging from hemochromatosis to various cancers. TV commercial advertised “Change what you can, manage what you can’t”.
- 23andMe is a case example of what not to do. 23andMe sought premarket approval AFTER marketing their product. During these communications and the application process, the FDA spoke with 23andMe over 100 times in both voice and electronic communications. In these communications, the FDA sought more information which largely went unanswered. Finally, 23andMe began to ignore the FDA altogether not even acknowledging FDA communications at all. This went on for over a year and a half. 23andMe in a libertarian leaning though pattern believed consumers had a right to know about their own DNA and potential risks involved. The FDA did not seem to disagree in principle, just the medical advice being dispensed by unqualified persons based on subjective data.
- Although questions were raised about the reliability of a sample collected by an ordinary person at home, the FDA was more concerned with the ramifications of false results (both positive and negative) and how the consumer without professional medical advice or follow on testing would handle the information. The concern of mental anguish or pre-emptive surgeries such as mastectomies based on vague science was enough for the FDA to continue scrutinizing 23andMe. Further, the FDA could not validate the precision accuracy of the test results. The FDA, feeling it had exhausted all communication with 23andMe sent a final warning to 23andMe threatening “seizure, injunction, and civil money penalties” which caught the attention of 23andMe. They immediately halted the test. Currently at least two class-action lawsuits are pending against 23andMe. Both have been filed in federal district courts, one in Massachusetts and the other in southern California.
- Shifting focus for the time being, 23andMe offer ancestry testing from DNA which is not regulated by the FDA. 23andMe are also seeking avenues to test in other countries currently offering their tests for medical purposes in Canada and the United Kingdom. Additionally, 23andMe were recently approved by the FDA to offer genetic testing specifically for Bloom Syndrome.
- This company can operate legally and without potential civil litigation by learning from the 23andMe case. Ambition is great. However, this company must know the FDA’s regulation and not attempt to shortcut the process. No matter how cumbersome it may be. First, this company must search the publicly available list of already approved devices and seek to possibly market a competitively priced similar device. As science continues to evolve in the genome arena, we can develop tests for specific conditions instead of the broad testing 23andMe were doing. As stated above, 23andMe recently garnered FDA clearance for a specific condition. If we decide to move forward with new broad range tests, we must seek class two status reassuring the FDA that the test will results are forwarded directly to the clients physician for disposition removing our company out of the advising equation. The FDA is already aware the effect electronic records are having with current consumers able to see laboratory results often before seeing their own physician on follow-up. If broad range tests are offered that are sent to physicians, the duty for interpretation will be between the client and their medical practitioner. However, in our information age, clients would still order the tests and use publicly available data to make their won informed decisions. Knowing this, the FDA and NIST are already in the developmental stage of gathering scientifically sound information to build a repository of information for consumers to use when this becomes a reality.