Published on September 30, 2015
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
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
Traditionally, genetic tests have been available only through healthcare providers such as physicians, nurse practitioners, and genetic counselors.
Keywords: genetic testing, genes, direct-to-consumer, DTC, genetic marketing, consumer genetics, consumer testing
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