Current Regulatory Considerations

Direct to ConsumerGenetic Testing

› 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

› 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

› 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)

› 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)

– 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

– 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

– 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)

– 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

– 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/InVitroDiagnostics/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

QUESTIONS?

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