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PGTandMe: SOCIAL NETWORKING-BASED GENETIC TESTING AND THE
EVOLVING RESEARCH MODEL
Valerie Gutmann Koch^
ABSTRACT
The opportunity to use extensive genetic data, personal information, and family medical history for research purposes may be naturally appealing to the personal genetic testing (PGT) industry, which is already coupling direct-to-consumer (DTC) products with social net- working technologies, as well as to potential industry or institutional partners. This article evaluates the transformation in research that the hybrid of PGT and social networking will bring about, and— highlighting the challenges associated with a new paradigm of “pa- tient-driven” genomic research—focuses on the consequences of shifting the structure, locus, timing, and scope of research through genetic crowd-sourcing. This article also explores potential ethical, legal, and regulatory issues that arise from the hybrid between personal genomic research and online social network- ing, particularly regarding informed consent, institutional review board (IRB) oversight, and ownership/intellectual property (IP) con- siderations.
TABLE OF CONTENTS
Introduction: Blood, Sweat, Tears . . . and Spit 34 I. Personal Genomic Testing: What’s on the Market Now? …..36
^ Valerie Gutmann Koch, J.D. is the Senior Attorney for the New York State Task Force on Life and the Law. The views expressed here are those of the author, and do not reflect those of the New York State Department of Health, Health Re- search, Inc., or the Task Force. The author appreciates the advice and suggestions made by Tracy Miller, Gaia Bernstein, Susie A. Han, Josh Kahn, and Robert Schwartz.
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IL A New Research Paradigm?: Toward a Personal Genomic Testing/Social Networking Hybrid 47
III. Shifts in Research Sfructure, Timing, Locus, and Scope 51 A. Shift in the Scope of Use of Genomic and Personal Data 51 B. Shift in the Role of the Participant: Patient-Driven
Research? 51 C. Shift in the Role of the Participant: Participant Self-
Organization and Self-Identification 53 D. Expectations of Care and Intensifying the Therapeutic Mis-
conception 54 IV. Legal, Ethical, and Regulatory Considerations for Research 55
A. Current Human Subjects Recruitment and Enrollment Law as it Applies to Social Networking-Based Genetic Research ….56
B. Ensuring Informed Consent in Social Networking-Based Ge- netic Research 62
C. IRB Oversight of Social Networking-Based Research: An “Unfortunate Loophole” 66
V. Ownership/Intellectual Property Concerns 68 Conclusion 72
INTRODUCTION: BLOOD, SWEAT, TEARS . . . AND SPIT
Lorenzo Odone’s struggle with adrenoleukodystrophy (ALD), a rare incurable genetic disorder that results in brain damage, failtire of the adrenal glands and, eventually, death, was memorialized in the Oscar-nominated íúmLorenzo’s Oil. The 1992 movie tells the story of Lorenzo’s parents’ mission to find a cure on their own, after failing to find a doctor who could treat their son’s illness.’ They reviewed studies and experiments, questioned doctors, organized an intema- tional symposium about ALD, and sought out a chemist to distill the oil that, in the movie, stopped the progression of Lorenzo’s disease. The moral of the story is that if the medical world fails to help us, we must help ourselves, even if it means contributing our own blood, sweat, and tears to find the treatments or cures we seek.
Today, genetic technology holds the promise of better and more frequent freatments and cures. It is also being used for more recrea- tional purposes—allowing customers to glean personal health and ancestral data for informational and nonmedical reasons. Most per-
‘ LORENZO’S OIL (1992); Roger Ebert, Lorenzo’s Oil, ROGEREBERT.COM (Jan. 15, 1993), http://rogerebert.suntimes.com/apps/pbcs.dll/article?AID=/l 9930115/REVIEWS.’3Ol 150303/1023.
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sonal genome testing (PGT) kits require the consumer to send in a DNA sample—often a spit sample or cheek swab—which is analyzed by a U.S. govemment-certified laboratory.^ The company then noti- fies the consumer of the results by telephone, mail, or, more recently, online. Now that some PGT companies have coupled their direct-to- consumer (DTC) products with social networking technologies,^ con- sumers ean communicate and share their infomiation—including ex- tensive personal infonnation, genetic data, and family history—with others.
The opportunity to use such a wealth of infonnation for research purposes is naturally appealing to the PGT companies and their poten- tial industry or institutional partners. Sourcing research participants from social networking sites is often referred to as “crowd-sourcing” or “open-source research.” PGT companies such as 23andMe have heralded the advantages of what they refer to as the “democratization of research,” or “patient-driven research.”” Often referred to as “col- laborative,” consumers/participants are purportedly involved in choos- ing the focus of the research and contributing their own genetic and personal data.
Genomic research arising out of PGT and social networking could produce a number of transformations in the model for clinical re- search. Recruitment and enrollment problems could be lessened as patient pools become larger and more diverse. Data shortages or gaps could be eliminated as participants could share every aspect of their personal and genetic information. Doubts about the validity of the results and uncertainty about eonclusions could be reduced, as inves- tigators could more easily reproduce each others’ research.^ The combination of DTC genomie testing services with online social net- working promises the advancement of research across entire popula- tions as well as for personalized medicine, or pharmacogenomics.
^ See CTRS. MEDICARE & MEDICAID SERVS., Clinical Laboratory Improve- ment Amendments (CLIA), http://www.ems.gov/CLIA/ (last updated July 12, 2011 ).
‘ Generally, online social networking involves sharing and communieating information over the intemet. Online communities provide a forum for people with similar interests, activities, or goals.
“* See, e.g., Rob Waters, Google-Backed 23andMe Seeks Parkinson’s Pa- tients Spit (Update I), BLOOMBERG (Mar. 12, 2009) (quoting Ann Wojcieki, who stated, “We also believe we are really democratizing research in a new way.”), http://www.bloomberg.eom/apps/news?pid=newsarehive&refer=home&sid=akLbmqi BlISw.
^ One early example of patient-driven medical advanees using social net- working technology is Flu Wiki, which is used to generate epidemiologieal maps of illness outbreaks. FLUWIKI, http://www.fluwiki.info/ (last visited Sept. 17, 2009).
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shifting both the focus and locus of research and revealing challenges that are not addressed by our current regulatory framework.
This article focuses on the potential ethical, legal, and regulatory issues that arise from bringing together personal genomic research and online social networking, and highlights the challenges associated with a new paradigm of “patient-driven” genomic research. Part II includes a summary of the PGT/social networking products currently on the market—with respect to both the testing services available and the companies’ intentions to use data for research purposes. Part III considers the evolving PGT/social networking hybrid for clinical re- search. Part IV discusses the implications of social networking-based genetic research in terms of shifting the structure, locus, timing, and scope of human subjects research. Part V explores the implications this evolving research model may have on a number of ethical, legal, and policy dimensions related to informed consent and institutional review board (IRB) oversight. Finally, Part VI addresses ownership and intellectual property (IP) considerations for the contributions or products of the techno-social hybrid of PGT and social networking.
I. PERSONAL GENOMIC TESTING: WHAT’S ON THE MARKET NOW?
The market for PGT continues to expand, with a test to match the needs of almost any consumer. There are services that provide genea- logical information to fill in a family tree (e.g., deCODE Genetics or 23andMe) and tests focused on disease and trait prediction (e.g., 23andMe, Navigenics, Pathway Genomics, or Interleukin Genetics). There are tests based on single-nucleotide polymorphisms (SNPs) or specific genetic markers (e.g., 23andMe, Navigenics, or Pathway Ge- nomics), and tests that conduct genome-wide scans (e.g., Knome). There are options for individuals who are concemed with privacy (e.g., Knome) as well as for those who want the opportunity to share and discuss their test resuhs with others (e.g., 23andMe). Some com- panies require customers to sign “informed consent” forms prior to purchasing a service or participating in genetic research while others do not. Some disclose the potential use of the data gleaned from their websites in future research—either by intemal investigators or by those who have purchased rights to the databases of information— while others currently have no intent to conduct any research at all. Each company’s offerings vary by price, services, and policies, and new companies and products seem to enter the market daily. Al- though Interleukin Genetics, Knome, Navigenics, deCODE Genetics, Pathway Genomics, TruGenetics, and 23andMe all provide some form of PGT service, not all of them intend to pursue research agendas util-
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izing the information to identify tests, diagnostics, or treatments. However, the collection of genomic data, often coupled with other personal information, renders a discussion of their services and poli- cies useful.
Knome (pronounced “know me”) is a private PGT company that interprets human genomes for pharmaceutical and clinical research- ers.* The company, founded in 2007, was the first of its kind to com- mercially offer complete genomic sequencing. To meet the needs of the research community, Knome established KnomeDISCOVERY to deliver data and analysis for complete human genome and exome se- quencing.’ Unlike some of the other companies that offer social net- working opportunities, Knome has emphasized privacy.^
deCODE Genetics’ service provides disease-specific genetic tests, as well as a genealogy service.’ deCODE Genetics’ services include a full forty-seven disease and trait scan (including ancestry informa- tion), a “Cardio” scan, and a “Cancer” scan.’” The conditions covered by deCODE Genetics’ complete scan, which captures over a million SNPs, include breast cancer, risk of heart attack, obesity, psoriasis, Alzheimer’s disease, asthma, eye color, and restless leg syndrome.” Results of the genetic analysis, performed in deCODE Genetics’ labo-
* FAQs, KNOME, http://knome.com/company/faqs/ (last visited Apr. 12, 2011). In July 2011, scientists used Knome’s services to aid in the discovery of a mutation associated with an inherited form of Parkinson’s disease. Carles Vilariño- Güell et al., VPS35 Mutations in Parkinson Disease, 89 AM. J. HUMAN GENETICS 162, 162(2011).
‘ KnomeDiscovery, KNOME, http://knome.com/solutions/knomediscovery/ (last visited Oct. 24, 2011).
^ David P. Hamilton, The Nitty-Gritty on Knome: How it Works, VENTUREBEAT (NOV. 29, 2007), http://venturebeat.com/2007/ll/29/the-nitty-gritty- on-knome-how-it-works/. Formerly, the FAQs section of the Knome website ex- plained that consumers will own their genomic information, and that they are under no obligation to continue using the company’s services or to maintain their genome with Knome. FAQs, KNOME, http://web.archive.Org/web/20091129101404/http://www.knome.com/about/faqs.html (last visited Sept. 17, 2009) (accessed by searching for the URL on Internet Archive database).
‘ DECODEME, http://www.decodeme.com/ (last visited Apr. 12, 2011). deCODE is an Icelandic company that endeavored to set up an Icelandic Health Sec- tor Database (HSD) containing the medical records and genealogical and genetic data of all Icelanders. David E. Winickoff, Genome and Nation: Iceland’s Health Sector Database and its Legacy, INNOVATIONS, Spring 2006, at 80, 80.
‘° deCODEme Complete Scan, DECODEME (June 8, 2011), http://www.decodeme.com/complele-genetic-scan; deCODEme Cancer Scan, DECODEME (Feb. 8, 2010), http://www.decodeme.com/cancer-scan; deCODEme Cardio Scan, DECODEME(Feb. 8, 2010), http://www.decodeme.com/cardio-sca
” Conditions We Cover, DECODEME, http://www.decodeme.com/conditions-covered (last updated Feb. 18, 2010).
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ratory in Reykjavik, Iceland, are made available through a genome browser tool that gives users access to the variant information on the SNPs analyzed in the scan. The company also offers genetic counsel- ing through a network of eertified genetic counselors, but does not require counseling prior to or after using its services. The company states that, as the account owner, the consumer owns the genetic data within the deCODE Genetics account, and he or she can choose to make the information private or public to all users or only to a list of selected “friends.”‘^ deCODE may also eontact users to invite them to participate in research studies.’^ In fact, the CEO of deCODE, Kari Stefansson, has stated that the company has conducted studies involv- ing more than 10,000 people with the same disease.’”* deCODE Ge- netics also maintains a blog, heralding discoveries by the company and announcing the benefits of its tests and products.’^
Although it has not stated its intent to conduct research, one of the most recent entries onto the PGT market. Pathway Genomics, has a significant social networking component. Pathway “provides physi- cians and their patients with genetic testing reports on diet and exer- cise, drug response, carrier status, and complex health conditions.”‘* Genetic counselors are available for consultation. Pathway also main- tains a blog, which addresses genetic news, innovations, and discover- ies, in addition to company-focused announcements.’^
On its website, the company TruGenetics previously claimed that the company would scan 500,000 SNPs for approximately 200 traits and illnesses and would provide access to genetic coxinselors.’^ To
‘̂ deCODEme Privacy Policy, DECODEME, http://www.decodeme.com/privacy-policy (last updated June 7, 2011).
” deCODEme Genetic Scan Service Agreement and Informed Consent, DECODEME, http://www.decodeme.com/service-agreement (last updated June 7, 2011).
‘”* Andrew Pollack, Google Co-Founder Backs Vast Parkinson’s Study, N.Y. TIMES, Mar. 12, 2009, at Bl, B9.
‘̂ DECODEYOU, http://decodeyou.com/ (last visited Apr. 12, 2011). ” PATHWAY GENOMICS, http://www.pathway.com/ (last visited Apr. 12,
2011). Pathway, which initially sold its test kits as direct-to-consumer products over the intemet (and at one point intended to sell its kits at Walgreens and CVS stores), now markets its services only to physicians. Turna Ray, FDA on Pathway’s Class I Spit Kit Determination: ‘Registration is Not Classification’, PHARMACOGENOMICS REP. (Oct. 5, 2011), http://www.genomeweb.com/mdx/fda-pathways-class-i-spit-kit- determination-registration-not-classification.
” See DNAction Blog, PATHWAY GENOMICS, http://blog.pathway.com/ (last visited Apr. 12,2011).
TruGenetics Services, TRUGENETICS, http://www.trugenetics.com/services/index.htm (last visited Apr. 12, 2011); TruGe- netics Process, TRUGENETICS, http://www.trugenetics.com/process/ (last visited Apr. 12,2011).
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receive the service, participants would be required to take a personal- ized risk assessment survey and to store their genetic risk results, sur- vey results, and other information with TruGenetics. The company also intended to add a social networking element, called TruCommu- nities. On its website, TruGenetics disclosed that “[o]ne of the main goals of TruGenetics^”‘̂ is to develop a unique research database for conducting genetic studies.”” In early 2009, TruGenetics declared that its genome scanning services would be free to its first 10,000 customers.’” However, on August 21, 2009, it announced that its funding sources had fallen through, and that, for the time being, it would not be offering genome scanning services.” Although the company maintains its website, complete with privacy policy and terms and conditions, it is not accepting new registrations at this time.”
23andMe is probably the most popular of the PGT companies on the market today,’^ as much for its approach to genetic testing as its relationship to Google (Anne Wojcicki, the co-founder of 23andMe, is
The company stated that it may conduct research, or “may partner with another organization, including non-profit and commercial entities, to conduct re- search.” Terms & Conditions for Genome Scanning Provided by TruGenetics, TRUGENETICS, http://www.trugenetics.com/aboutytenns.htm (last visited Apr. 12, 2011) [hereinafter TruGenetics Terms & Conditions]. The Terms and Conditions continue: “[y]our decision to use TruGenetics”’”” services indicates that you are will- ing to contribute your questionnaire responses and genetic infonnation to the TruGe- netics”^” research database. This research database will be free of any information that can be used to trace this data to you . . . . TruGenetics”” may charge a fee for con- ducting research using this database.” Id.
Money for Nothin’ and Your SNPs for Free?, GENOMEBOY.COM (June 19, 2009), http://genomeboy.com/2009/06/l9/money-for-nothin-and-your-snps-for-free/ (linking potential customers to the then-current TruGenetics website: TRUGENETICS (June 21, 2009), http://web.archive.Org/web/20090621083424/http://www.trugenetics.com/? (accessed by searching for the URL on Internet Archive database); the TruGenetics website has subsequently been changed to reflect the company’s revised policy).
‘̂ Dan Vorhaus, 10,000 Free Genome Scans too Good to be Tru? TruGenet- ics Announces Fundraising Difficulties, GENOMICS L. REP. (Aug. 21, 2009), http://www.genomicslawreport.com/index.php/2009/08/21/free-genome-scans-too- good-to-be-tru-trugenetics-announces-fundraising-difficulties/.
Not Accepting New Registrations, TRUGENETICS, http://www.trugenetics.com/ (last visited Apr. 12, 2011).
” 23ANDME, https://www.23andme.com/ (last visited Apr. 12, 2011); Dan Vorhaus, A Thanksgiving Tradition: 23andMe Repackages Product, Raises Prices, GENOMICS L. REP. (NOV. 23, 2010), http://www.genomicslawreport.eom/index.php/2010/l 1/23/a-thanksgiving-tradition- 23andme-repackages-product-raises-prices/ (discussing repackaging and repricing by “23andMe, the most popular provider of direct-to-consumer (DTC) genetic testing products.”).
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married to Sergey Brin, co-founder of Google).^” 23andMe’s innova- tion stems from its coupling of social networking elements with its testing service.^’
23andMe posts genetic test results for approximately 100 traits and diseases, along with genealogy and ancestry information (the “recreational geneties” aspects of the product), on a password pro- tected website.^* 23andMe’s blog, “The Spittoon,” provides educa- tional posts about genetics, along with a series entitled “SNPwatch,” which highlights nev research and ties it back to the consumer’s raw data.^’ 23andMe customers are encouraged to become active mem- bers of the 23andMe commtinity. One blogger, deseribing his experi- ence with 23andMe, explained,
I get to join groups of fellow subscribers with whom I share some DNA commonalities, be they connected with health or haplotype. Far some, these will be support groups of those said to share a significant risk of something awful. For others it will be a new way to forge genealogieal links. New groups are formed, almost a parody of the idea of biosocial identity that I envisaged . . . }^
‘̂’ Katie Hafner, Silicon Valley Wide-Eyed over a Bride, N.Y. TIMES, May 29, 2007, at Cl. Google:, whieh created a business arm solely foeused on venture- related activities in 200S, “invested in 23andMe and Navigenies, two companies offering consumer genetic testing.” Andrew Pollack, Google’s Venture Arm Invests in Biotech Start-Up._ N.Y. TIMES (Oet. 1, 2009, 8:37 AM), http://bits.blogs.nytimes.eDm/2009/10/01/googles-venture-arm-invests-in-bioteeh- start-up/. Allegedly, Brin loaned 23andMe $2.6 million in start-up fees that the com- pany paid baek when Gtoogle itself beeame a Series A investor. David Ewing Duncan, The Glamorous Life of Web 2.0 Genetics, CNNMONEY.COM (Sept. 25, 2009), http://money.enn.eom/2009/09/25/teehnology/23andme alzheimers_avey.fortune/ind ex.htm. Other investors inelude Genenteeh and New Enterprise Associates. Luke Timmerman, 23andMe Brings Down the Price of Consumer Genetic Tests, Builds Up Relations with Big Pharma, XCONOMY (May 24, 2011), http://www.xconomy.com”san-franeiseo/2011/05/24/23andme-moves-beyond-simple- eonsumer-dna-sequeneing-sets-sight-on-researeh/.
^̂ For a thorough description of the social networking aspects of 23andMe, see Sandra Soo-Jin Lee ¿L LaVera Crawley, Research 2.0: Social Networking and Direct-to-Consumer (DTC) Genomics, AM. J. BIOETHICS, June 2009, at 35, 35.
*̂ 23ANDME, https://www.23andme.eom/ (last visited Oet. 23, 2011). ” See THE SPITTOON, http://spittoon.23andme.eom/ (last visited Apr. 12,
2011). *̂ Ian Hacking, Commercial Genome Reading, NAT’L HUMANITIES CTR.
(Mar. 30, 2009), http://onthehuman.org/2009/03/eurrent-eontroversies-ian-haeking/.
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23andMe engaged Informed Medical Decisions, Inc. (In- formedDNA), a nationwide network of board-certified genetics ex- perts, to offer independent genetic counseling services to its custom- ers. Linda Avey, eo-founder of the company with Wojcicki, has spoken out against a “patemalistic” approach to genetic testing, but has acknowledged that genetic counseling might be required in certain situations.^”
23andMe has devoted its resources to conducting research utiliz- ing genetic and phenotypic information gathered through its services. According to reports, nearly 90 percent of its 125,000 genotyped cus- tomers have opted to participate in research approved by the com- pany’s IRB.^’ 23andMe’s research arm, 23andWe, was the com- pany’s first attempt to obtain detailed trait information via online sur- veys of customers.^^ The service evolved into more targeted recruit- ment of specific “research communities” for larger association studies for Parkinson’s disease,^” sarcoma,’” and pregnancy.’^ The first initia- tive was launched March 7, 2009, and is an effort to recruit 10,000 participants for Parkinson’s disease research. It is funded by Brin, who allegedly found out through his wife’s company’s test that he was predisposed to the disease.”* Participants receive all 23andMe’s services for free and are given access to Parkinson’s disease commu- nity forums. As of January 26, 2010, more than 3,500 people with Parkinson’s disease had submitted saliva samples for genetic analysis
^’ Press Release, 23andMe, 23andMe Enlists Informed Medical Decisions to Make Independent Genetic Counseling Services Available to Customers (June 3, 2010), available at https://www.23andme.com/about/press/20100603/.
•”‘ In September 2009, Avey left 23andMe to start an Alzheimer’s disease foundation. DNA Test Firm Founder to Start Research Foundation, N.Y. TIMES (Sept. 4, 2009), available at http://www.nytimes.com/2009/09/05/technology/start- ups/05bizbriefs-DNATESTFIRMF_BRF.html? r=l.
‘̂ Bruce V. Bigelow, 23andMe Identifies Possible Protective Gene Against Parkinson’s Disease, XCONOMY (Oct. 25, 2011), http://www.xconomy.com/san- diego/2011/10/25/23andme-identi Fies-possible-protecti ve-gene-against-parkinsons- disease/.
” Research, 23ANDME, https://www.23andme.com/research/ (last visited Apr. 12,2011).
^̂ 23andMe Parkinson’s Community: Strength in Numbers, 23ANDME, https://www.23andme.com/pd/ (last visited Apr. 12, 2011); On Our Way to 10,000: 23andMe Welcomes First Members of Parkinson’s Disease Community, THE SPITTOON (Apr. 13, 2009), http://spittoon.23andme.com/2009/04/13/on-our-way-to- 10000-23andme-welcomes-first-members-of-parkinsons-disease-community/.
23andMe Sarcoma Community: A Patient-Driven Revolution in Sarcoma Research, 23ANDME, https://www.23andme.com/sarcoma/ (last visited Aug. 9, 2011).
Pregnancy Community: See Your Pregnancy in a Whole New Light, 23ANDME, https://www.23andme.com/pregnancy/ (last visited Apr. 12, 2011).
*̂ See Pollack, supra note 14, at B9.
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and answered over 30,000 online surveys.” In addition, more than 8,000 people without Parkinson’s disease have taken 23andMe’s sur- veys as control subjects.^^ Likewise, individuals who have been diag- nosed with sarcoma are encouraged to “take an active role in research that may benefit you and others living with a similar diagnosis” and to “[t]ake action against this disease,” by providing a saliva sample for genetic analysis, completing online surveys about their sarcoma expe- rience and response to treatment, and participating in the “commu- nity.”^’
In the summer of 2009, 23andMe unveiled Research Revolution, where anyone—those with the disease to be studied or healthy volun- teers who would serve as controls—could participate.”” The princi- ples of the Research Revolution were as follows: participants who purchased the spit test would then “vote” on a predetermined list of common diseases on which they would like the company to focus research.’” For the first wave of votes, from July 7 through September 30, 2009, the diseases and traits on which participants could vote in-
•” Nick Eriksson & Lizzie Dorfman, 23andMe Parkinson’s Research Initia- tive Progress Update, THE SPITTOON (Jan. 26, 2010), http://spittoon.23andme.com/2010/01/26/23andme-parkinsons-research-initiative- progress-update/. By March 2011, the study had enrolled more than 5,000 partici- pants with Parkinson’s disease and gathered more than 40,000 data points about their experiences with the disease. An Update on Our Parkinson’s Research Community, THE SPITTOON (Mar. 21, 2011), http://spittoon.23andme.com/2011/03/21/an-update- on-our-parkinsons-research-community/.
” Id ^’ 23andMe Sarcoma Community: A Patient-Driven Revolution in Sarcoma
Research, supra note 34. ‘”‘ Linda Avey, Introducing a Do-It-Yourself Revolution in Disease Research,
THE SPITTOON (July 7, 2009), http://spittoon.23andme.com/2009/07/07/introducing-a- do-it-yourself-revolution-in-disease-research/ (linking readers to a now defunct web- site. The 23andMe Research Revolution, 23ANDME (Jan. 8, 2010), http://web.archive.Org/web/20100108012414/https://www.23andme.com/researchrevo lution/ (accessed by searching for the URL on Internet Archive database). For the first phase of Research Revolution, participants could purchase a limited version of its testing service at a reduced rate of $99, but 23andMe discontinued offering the serv- ice at this rate because, as Andro Hsu, then the Manager of Regulatory & Govern- mental Affairs at 23andMe, stated, “we found that consumer interest is focused on our complete product and those users can still pledge to support the program.” Mark Henderson, Personal Genomics: 23andMe’s Research Revolution is Over…For Now, TIMESONLINE (Jan. 7, 2010), http://web.archive.Org/web/20100417152440/http://timesonline.typepad.com/science/ 2010/01 /personal-genomics-23andmes-research-revolution-is-over-for-now.html (accessed by searching for the URL on Internet Archive database).
“” Jason Kincaid, 23andMe Launches $99 Kit to Spur its ‘Research Revolu- tion, ‘ TECHCRUNCH (July 8, 2009), http://techcrunch.com/2009/07/08/23andme- launches-99-kit-to-spur-its-research-revolution/.
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eluded epilepsy, migraines, psoriasis, rheumatoid arthritis, and severe food allergies.’*^ Participants then submitted online surveys and ques- tionnaires related to their “physical traits, health history and behav- iors.”‘*’ Any diseases that garnered 1,000 or more votes would be- come the subject of an association study performed by the company’s scientists and outside researchers, using the genetic data from the as- sembled patients and controls. The company called this collaborative, democratizing research: “research of, by and for the people, directed and advanced by you.””̂ Although Research Revolution itself was discontinued due to unprofitability, 23andMe’s customers were in- formed that they could still participate in research by purchasing the company’s ftill services.”^
In June 2010, a principal investigator at 23andMe, Nicholas Eriksson, and his colleagues published the first genome-wide associa- tion studies (GWAS) on multiple traits ascertained by self-reported information provided through the intemet. The artiele stated that the company’s research framework “takes advantage of the interactivity of the Web both to gather data and to present genetic information to research participants, while taking care to correct for the population structure inherent to this study design.””* Wojcicki, a coauthor, ex- plained, “[i]n this paper, we confirm that self-reported data from our customers has the potential to yield data of comparable quality as data
« Id « Id ‘^ Research Revolution—23AndMe, PHARMA STRATEGY BLOG (Aug. 20,
2009), http://phanTiastrategyblog.com/2009/08/research-revolution-23andme.html/ (citing the now defunct “Research Revolution” page of the 23andMe website. The 23andMe Research Revolution, 23ANDME (Jan. 8, 2010), http://web.archive.Org/web/20100108012414/https://www.23andme.com/researchrevo lution/ (accessed by searching for the URL on Intemet Archive database)).
Andro Hsu maintained that research will continue to be a fundamental aspect of 23andMe’s business model: “Research has always been a fundamental part of our platform. 23andMe is focused on providing a great experience for consumers while also allowing them to contribute meaningfully to scientific research. We de- signed our web service to allow customers to participate in research surveys and to be engaging enough that they will want to retum to our site and continue taking new surveys. We’re seeing more and more active involvement of individuals in the man- agement of their health. 23andMe is part of this shift in focus as far as genetics is concemed; but we take individuals a step farther by allowing them to be involved in research.” Henderson, supra note 40.
Nicholas Eriksson et al., Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits, 6 PLoS GENETICS 1, 1 (June 2010), http://www.plosgenetics.org/article/fetchObjectAttachment.action?uri=info%3Adoi% 2F10.1371 %2Fjoumal.pgen. 1000993&representation=PDF.
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gathered using traditional research methods.”‘” The article’s publica- tion was delayed for almost six months, while the editors of the jour- nal considered issues related to ethical review, consent, and data ac- cess.”‘
The public sector has responded to the private sector’s move into genetic research by offering altemative research initiatives.’” The
“” Press Release,, 23andMe, 23andMe Makes New Discoveries in Genetics Using Novel, Web-based, Participant-driven Methods (June 24, 2010), available at https://www.23andme.com/about/press/20100624/.
” Greg Gibson & Gregory P. Copenhaver, Consent and Internet-Enabled Human Genomics, 6 PLoS GENETICS 1, 1 (June 2010), http://www.plosgenetics.crg/article/fetchObjectA ttachment.action?uri=info%3Adoi% 2F10.137r/o2Fjoumal.pg3n.l000965&representation=PDF. On June 23, 2011, 23andMe published its second research paper, discovering two novel associations with Parkinson’s disease using the largest single Parkinson’s cohort to date, in addi- tion to replicating 20 previously identified genetic associations with the disease. See Chuong B. Do et al., Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson’s Disease, 1 PLoS GENETICS 1, 1 (June 2011), http://www.plosgenetics.crg/article/fetchObjectAttachment.action?uri=info%3Adoi% 2F10.1371%2Fjoumal.pgjn.l 002141 &representation=PDF.
” Some public databases and software for genomic information are already being developed or are available to non-profit organizations, academic medical cen- ters, and other entities dîvoted to public research. For example, the Intemational HapMap Project was established in 2002 as a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers fmd genes associated with human disease and drug responses. About the International HapMap Project, INT’L HAPMAP PROJECT, http://hapmap.ncbi.nlm.nih.gov/thehapmap.html.en (last visited Apr. 12, 2011). The information produced by the Project will be made freely available. Id. In phase 1, “over 1.1 million SNPs were genotyped in 270 individuals from 4 worldwide populations.” Gudmundur A. Thorisson et al., A User’s Guide to the International HapMap Project Web Site, INT’L HAPMAP PROJECT 1 (2005), http://snp.cshl.org/downloads/presentations/users_guide_to_hapmap.pdf Likewise, the 1000 Genomes Project was established in January 2008, as an intemational effort to sequence the genomes of approximately 1,200 people fi-om around the world in order to create the most detailed and medically useful picture to date of human ge- netic variation. Project Overview, 1000 GENOMES PROJECT, http://www.lOOOgenomes>org/about (last visited Oct. 23, 2011). Until recently, the collected data were available to the worldwide scientific community through fi-eely accessible public databases. See First Data Release: SNP Data Downloads and Ge- nome Browser Representing Four High Coverage Individuals, 1000 GENOMES PROJECT (Dec. 23, 200S), http://www.1000genomes.org/announcements/first-data- release-snp-data-downloads-and-genome-browser-representing-four-high-covera (“The first set of SNP calls representing the preliminary analysis of four genome sequences are now available to download through the EBI FTP site and the NCBl FTP site.”). 5ee ‘also About Us, THE RARE GENOMICS INSTITUTE, http://www.raregenomics.org/about.php (last visited Oct. 26, 2011). In December 2011, the National Human Genome Research Institute announced that would give approximately $300 million to three institutes to continue work on the 1000 Genomes
2012] PGTandME: SOCIAL NETWORKING-BASED GENETIC TESTING 45
Personal Genome Project (PGP) is a public interest, nonprofit re- sponse to eompanies like 23andMe and deCODE Genetics, with the intention of placing research results in the public domain.^” The PGP aims to recruit 100,000 participants to share their genome sequences, related health and physical information, and regularly report their ex- periences. Participants will also receive online access to their genome sequences for their own use. To enroll in the project, participants must take an entrance exam, which covers genetics, regulation, and the risks and benefits of genetic technologies.^’ The second phase of the project has enrolled over 1,000 individuals whose profiles (both genetie and phenotypic) are made public on the PGP website.^^ Each subsequent phase will encompass larger and larger numbers of people. The PGP does not provide genetic counseling.
Despite concems regarding the inadequacy of DTC genomic tests to explain the complexity of genetic information in combination with environmental and lifestyle information,^^ the questionable clinical validity or utility of the tests,^” and the lack of genetic counseling as-
Projeet. Susan Young, Funds Dedicated to Personalized Geneties: NIH Aims to Push Genome-Sequencing into Mainstream Medicine, NATURE NEWS (Dee. 6, 2011), http://www.nature.eom/news/funds-dedieated-to-personalized-geneties-l.9565.
^̂ See PERSONAL GENOME PROJECT, http://www.personalgenomes.org/ (last visited Apr. 12, 2011); see also Newsletter #1, PERSONAL GENOME PROJECT (Apr. 2009), http://www.personalgenomes.org/newsletter/01 .html.
‘ ‘ See Kathleen Page et al.. PERSONAL GENOME PROJECT STUDY GUIDE,
http://www.pgpstudy.org/index.htm (last visited Apr. 12, 2011). ” PGP-IK, PERSONAL GENOME PROJECT,
http://www.personalgenomes.org/pgplk.html (last updated Mar. 30, 2011). A blogger paid by 23andMe through its pregnaney initiative noted, “[t]he
geneticist said that over at 23andMe, they were worried that people would just see the number and stop reading. That there’d be all these worried people out there, who might need to be a bit eareful—but didn’t need to go and start pricking their fingers and swearing off ehoeolate bars, either.” What? Me Worry? My 23andMe Results, 23ANDME (Apr. 16, 2009), http://agelessbodytimelessmom.wordpress.eom/2009/04/16/what-me-worTy-my- 23andme-results/. Most identified risk-marker alíeles confer ineredibly small risks, between 1.1—1.5. Peter Kraft & David J. Hunter, Genetic Risk Prediction—Are We There Yet?, 360 NEW ENGL. J. MED. 1701, 1701 (2009).
See Gail Javitt et al.. Developing the Blueprint for a Genetic Testing Reg- istry, 13 PUB. HEALTH GENOMICS 95, 96 (2009) (“While the number of genetie tests continues to grow, publiely aeeessible infonnation about the analytic and elinieal validity of sueh tests is lagging,” and supports the HHS Seeretary’s Advisory Com- mittee on Geneties, Health and Society’s 2008 recommendation to develop a elinieal registry, for “a more transparent, quality-centered system of oversight that will better inform and protect the publie.”). Based on a white paper issued by 23andMe, Navi- genies, and DeCODE Geneties that described how the eompanies ealeulate genetie risk, using voluntary industry standards they had developed with the help of the Per- sonalized Medieine Coalition, Muin Khoury, Director of CDC’s Offiee of Publie Health Genomies, stated that eompanies still diverge on elinieal validation issues
46 HEALTH MATRIX [Vol. 22:33]
sociated with DTC genetic testing,^^ such tests have been proliferat- ing.̂ * Among the most visible are those provided by companies such as Navigenics,” Inherent Health,^^ 23andMe, deCODE Genetics, Knome, and Pathway Genomics, all of whom promise consumers knowledge and control over their genetic destinies—and, in many cases, the opportunity to participate in, or even drive, genetic re- search.^’
Although companies like deCODE Genetics and TruGenetics have fioundered in the recent economic environment, the opportunity
critical to protecting consumer health. Tuma Ray, More Work Needed to Standardize Consumer Genomics Offerings, Top US Health Official Says, GENOMEWEB.COM (Apr. 15, 2009), http://www.genomeweb.com/dxpgx/more-work-needed-standardize- consumer-genomics-offerings-top-us-health-official-?page=show; see also Eline Bunnik et al.. How Attitudes Research Contributes to Overoptimistic Expectations of Personal Genome Testing, AM. J. BIOETHICS, June 2009, at 23, 24. Recent studies have emphasized the “recreational” nature of genomic testing, focusing on the limited predictive capacity of current tests to determine risk. See Kraft & Hunter, supra note 53, at 1701-03; see also David B. Goldstein, Common Genetic Variation and Human Traits, 360 NEW ENGL. J. MED. 1696, 1698 (2009).
” See NAT’L INST. HEALTH, HANDBOOK: HELP ME UNDERSTAND GENETICS,
111 (Nov. 7, 2011), available at http://ghr.nlm.nih.gov/handbook.pdf. ‘* For excellent overviews and descriptions regarding genetics, genomics,
and genetic testing, see Gail H. Javitt et al., Direct-to-Consumer Genetic Tests, Gov- ernment Oversight, and the First Amendment: What the Government Can (and Can’t) Do to Protect the Public’s Health, 57 OKLA. L. REV. 251, 255-56 (2004); Lori An- drews & Erin Shaughnessy Zuiker, Ethical, Legal, and Social Issues in Genetic Test- ing for Complex Genetic Disease, 37 VAL. U. L. REV. 793, 798 (2003).
” Founded in 2006, Navigenies’ PGT service does not offer genealogy serv- ices or a social networking component, but does maintain a blog that gives lifestyle tips, provides updates on the company, and discusses genes for which Navigenics tests. See NAVIGENICS, http://www.navigenics.com/ (last visited Apr. 12, 2011); The Navigator-Navigenics Blog, NAVIGENICS, http://blog.navigenics.com/ (last visited Apr. 12,2011).
‘^ Interieukin Genetics markets a number of “Inherent Health’f”” genetics tests. About Interleukin Genetics, INTERLEUKIN GENETICS, http://www.ilgenetics.com/content/about-interleukin/indexjsp (last visited Apr. 12, 2011). Inherent Health genetics tests require a consent form for all consumers of their tests, specifically “to document that the person providing their DNA sample to Inher- ent Health for analysis has done so voluntarily.” Frequently Asked Questions, INHERENT HEALTH, http://www.inherenthealth.com/faq.aspx (last visited Apr. 12, 2011). Inherent Health informs its clients that “[y]ou own your genetic data. As a result, only you are able to access and download your genetic data and test results. Furthermore, you cannot be forced to reveal the results of your genetic test to anyone else.” Id.
^’ Almost all of these companies state in some form that their products are not designed to diagnose, prevent, or treat any condition or disease but are intended for educational, informational, and research purposes only. See, e.g.. Consent Docu- ment, 23ANDME, https://www.23andme.com/about/consent/ (last visited Apr. 12, 2011).
2012] PGTandME: SOCIAL NETWQRKING-BASED GENETIC TESTING 47
for PGT companies to contribute to and transform the model for re- search is still very real. The success or failure of one company cannot predict the success or failure of the industry as a whole. David Alt- shuler, a medical geneticist at the Massachusetts General Hospital, cautioned, “[i]t would be a mistake to draw any connection between the medical promise of the human genome and the success of a spe- cific company and business model.”””
II. A NEW RESEARCH PARADIGM?: TOWARD A PERSONAL
GENOMIC TESTING/SOCIAL NETWORKING HYBRID
As the number of clinical trials in the United States multiply and studies require greater numbers of participants, recruitment of re- search participants becomes increasingly difficult.^’ By March 2009, there were approximately 50,000 clinical trials underway, of which 80 percent were delayed at least a month due to low enrollment.*^ Con- sequently, researchers and sponsors of research are seeking access to potential research populations in new and different ways.
At the same time, more and more individuals are seeking health information from the internet. A 2006 Pew Research Center study found that 80 percent of internet users in the United States obtain health information online,̂ ^ a statistic that is likely to increase as on- line communities and social networking sites continue to niultiply. And a more recent study found that one in four internet users living with high blood pressure, diabetes, heart conditions, lung conditions, and cancer have gone online to find others with similar health con- cerns.^ The PatientsLikeMe Genetics Search Engine*^ allows pa-
Nicholas Wade, A Genetics Company Fails, Its Research Too Complex, N.Y. TIMES, NOV. 18, 2009, at B2.
” Susan Gilbert, Trials and Tribulations, 38 HASTINGS CTR. REP. 14, 14 (2008); Kenneth A. Getz et al.. Assessing the Impact of Protocol Design Changes on Clinical Trial Performance, 15 A M . J. THERAPEUTICS 450 (2008).
Sarah Kliff, Pharma’s Facebook: Research 2.0: How Drug Companies are Using Social Networks to Recruit Patients for Clinical Research, DAILY BEAST (Mar. 9, 2009), http://www.thedailybeast.com/newsweek/2009/03/10/phanna-s- facebook.html.
” Susannah Fox, Online Health Search 2006, PEW INTERNET & AMERICAN LIFE PROJECT 4 (Oct. 29, 2006),
http://www.pewintemet.org/~/media//Files/Reports/2006/PlP_Online Health_2006.p df.pdf.
Susannah Fox, Peer-to-Peer Healthcare, PEW INTERNET & AMERICAN LIFE PROJECT 2 (Feb. 28, 2011),
http://pewinteniet.org/~/media//Files/Reports/201 l/Pew_P2PHealthcare_2011 .pdf. Very few internet users check the source and date of the information they find. Fox, supra note 63, at iii.
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tients to “share genetic information and find others like them by the gene (and even the specific mutation in that gene) causing their condi- tion.”** The co-founder of PatientsLikeMe described the system as helping to “realiz[e] the goals of personalized medicine today,”*^ and the company emphasizes the democratization of data and research enabled by its “openness philosophy.”*^
Likewise, pharmaceutical companies have begun to take advan- tage of the research recruitment opportunities afforded by social net- working. Online networking sites like Inspire.com and Patient- sLikeMe allow users to receive targeted information from pharmaceu- tical companies who use the site as a recruiting tool for drug studies. In 2008, a partnership between Novartis and PatientsLikeMe led to the first effort to recruit research participants for a study (in this case, for a multiple sclerosis drug) through a social network.
In a similar effort, Pfizer announced its intention to create an online community to increase clinical trial participation, in collaboration with Private Ac- cess, a health information technology company.”
*’ PATIENTSLIKEME, www.patientslikeme.com (last visited Sept. 17, 2009). PatientsLikeMe allow registrants to record, monitor, and share symptoms, severity, progression, and treatment (including drug regimens and dosages) on the site. See id. In April 2011, it opened its online community to people with all types of illnesses, rather than restricting it to patients with particular chronic diseases. PatientsLikeMe Calls All Patients with Any Condition to Join, PATIENTSLIKEME (Apr. 11, 2011), http://blog.patientslikeme.com/2011/04/ll/patientslikeme-calls-all-patients-with-any- condition-to-join/.
** Press Release, PatientsLikeMe, PatientsLikeMe Launches Genetics Search Engine for ALS Patients (Apr. 22, 2009), available at http://www.patientslikeme.com/press/20090422/15-patientslikeme-launches-genetics- search-engine-for-als-patients.
*’ David S. Williams III, Our Philosophy, PATIENTSLIKEME, http://www.patientslikeme.com/about/openness/ (last visited Sept. 26, 2011) (“Pa- tientsLikeMe enables you to [a]ffect a sea change in the healthcare system. We be- lieve that the Intemet can democratize patient data and accelerate research like never before. Furthermore, we believe data belongs to you the patient to share with other patients, caregivers, physicians, researchers, pharmaceutical and medical device com- panies, and anyone else that can help make patients’ lives better. Will you add to our collective knowledge… and help change the course of healthcare?”).
^ David S. Williams III, The Value of Openness, PATIENTSLIKEME (Dec. 13, 2007, 3:50 PM), http://blog.patientslikeme.com/2007/12/13/the-value-of-openness/.
‘ ‘ KWff, supra noit 62. Id. “In May 2008, the site sent out a message to the 8,000 members of
their multiple-sclerosis community, alerting them to the Novartis trial. From that e- mail, nearly 1,500 members visited the Novartis website. After recruiting through PatientsLikeMe.com, Novartis saw a boost in registrations for the study, although they did not track which or how many individuals enrolled because of the cam- paign—due to patient privacy concems.” Id.
‘̂ The site will “focus on patient privacy rights to connect patients, physi- cians and researchers with tailored information, tools and technology that will lead to
2012] PGTandME: SOCIAL NETWORKING-BASED GENETIC TESTING 49
Even before PGT companies entered the fray, commentators had already begun considering the pros and cons of online targeted re- cruitment.” The proliferation of social networking sites offers re- searchers and research sponsors the opportunity to access databases of personal, genetic, and health-related information. Crowd-sourcing enables pharmaceutieal companies to “get easy online access to highly engaged populations with specific medical conditions.”” Online re- cruitment allows potential participants who might never have heard about such studies otherwise, due to geography or other reasons, to decide whether enrollment is right for them. Social networking aids recruitment, as participants enlist others from among their connections within their network.”’
Although many of the features of research resulting from PGT and social networking are new, a number of the underlying issues have been discussed at length in the context of biobanks.” Biobanks serve as repositories of biological specimens, which can be analyzed to identify gene variations associated with human diseases. Typically, samples are collected during routine clinical and surgical procedures’*
more informed decisions about patient care, including clinical trial participation in- dustry-wide.” Pjizer and Private Access Announce Plans to Develop Online Commu- nity to Accelerate Clinical Research, BUSINESS WIRE (Aug. 19, 2009), http://www.businesswire.com/news/home/20090819005806/en/Pfizer-Private- Access-Announce-Plans-Develop-Online.
^̂ In an in-depth piece in August 2009, the New York Times examined the practice of collecting patient data and genetic infonnation online to use in recruiting patients for clinical trials, conducting research intemally or to sell to drug and bio- technology companies. Sarah Amquist, A Research Trove: Patients’ Online Data, N.Y. TIMES, Aug. 25, 2009, at Dl; ̂ ee also Editoriai, Calling All Patients, 26 NATURE BIOTECHNOLOGY 953 (2008).
” Kliff, îupra note 62. Dan O’Connor, Apomediation and the Significance of Online Social Net-
working, AM. J. BiOETHics, June 2009, at 25, 26. ” For comprehensive considerations of the legal and ethical issues as they
relate to biobanks, 5-ee, e.g., Karen J. Maschke, Biobanks: DNA and Research, in FROM BIRTH TO DEATH AND BENCH TO CLINIC: THE HASTINGS CENTER BIOETHICS
BRIEFING BOOK FOR JOURNALISTS, POLICYMAKERS, AND CAMPAIGNS I I , 12-13 (Mary
Crowley ed., 2008), available at http://www.thehastingscenter.org/uploadedFiles/Publications/Brieñng_Book/biobank s%20dna%20and%20research.pdf; The National Bioethics Advisory Commission, Research Involving Human Biological Materials: Ethical Issues and Policy Guidance (Aug. 1999), available at http://bioethics.georgetown.edu/nbac/hbm.pdf; THE ETHICS OF RESEARCH BIOBANKING (Jan Heldge Solbakk, Soren Holm & Bjom Hofmann, eds., 2009); ROBERT F. WEIR & ROBERT S. OLICK, THE STORED TISSUE ISSUE: BIOMÉDICAL
RESEARCH, ETHICS, AND LAW IN THE ERA GENOMIC MEDICINE (2004).
Maschke, supra note 75, at 11 (citing ELISA EISEMAN & SUSANNE B. HAGA, HANDBOOK OF HUMAN TISSUE SOURCES: A NATIONAL RESOURCE OF HUMAN
TISSUE SAMPLES (1999)).
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or by research initiatives that collect, store, and distribute samples and data to researchers.^^ Recently, biotech companies have begun to build biobanks for the sole purpose of selling or licensing samples and data to researchers.^^ The circumstances by which samples are col- lected and obtained may shed new light on the gaps in regulation and law as they relate to these issues.
The move toward online collaboration and the “democratization” of data can be seen in the greater context of the transformation of the “networked information eeonomy.”^^ The “basic change in the mate- rial conditions of information” due to the increase in electronic infor- mation sharing has been credited with shifting the role of the partici- pant and rendering information communication collaborative instead of a single-direction endeavor.^”
Ultimately, many of the PGT companies’ business models do not focus on profits from the sale of genetic tests, but from gathering the genetic and personal data that can be licensed and sold to institutions, academic researchers, or drug companies.^’ Thus, these companies’ mission statements, websites, and advertisements are potentially mis- leading, convincing PGT consumers that they are either (1) purchas- ing a recreational service to track ancestry or predisposition to genetic conditions, or (2) driving in-house research efforts to find ctires and benefit society.
” Id. For example, the author eites the Children’s Hospital of Philadelphia projeet to eolleet blood samples from more than 100,000 ehildren as part of a genetie researeh initiative to study the most prevalent ehildhood diseases.
^’ See, e.g., Anita Huslin, Firm Carves New Model in Biotech Research, WASH. POST, Dee. 17, 2007, at Dl.
” For example, intelleetual property seholar Yoehai Benkler is an advoeate of eollaborative researeh and peer produetion on the intemet and diseusses the net- worked infonnation economy. See, e.g., Yoehai Benkler, Freedom in the Commons: Towards a Political Economy of Information, 52 DUKE LAW J. 1245, 1246, 1251, 1255-56(2003).
^̂ Id. at 1250 (diseussing the deeentralizing of the distribution of infonnation funetion). Benkler deseribes the “eommons-based peer produetion” as “a proeess by whieh many individuals, whose actions are eoordinated neither by managers nor by priée signals in the market, eontribute to a joint effort that effeetively produees a unit of information or eulture.” Id. at 1256.
‘̂ David P. Hamilton, 23andMe’s Price Cut: The End of Commercial Personal Genomics?, BNET HEALTHCARE (Sept. 9, 2008), http://industry.bnet.eom/healtheare/1000151/23andmes-priee-eut-the-end-of- eommerieal-personal-genomies/. However, many eompanies’ business models foeus on the money to be made from genetie genealogy and aneestry testing. Daniel MaeArthur, Cheap Personal Genomics: The Death-Knell for the Industry?, WiRED.COM (Sept. 10, 2008, 11:58 AM), http://seieneeblogs.eom/genetiefuture/2008/09/eheap_personal_genomies_the de.php
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III. SHIFTS IN RESEARCH STRUCTURE, TIMING, LOCUS, AND SCOPE
The concems related to genome-wide research resulting from the PGT/social networking hybrid require thoughtful consideration, par- ticularly in light of transformations in the way that research is done and how participants are recruited. The where, when, who, and how of research is shifting, intensified by the fact that all interactions be- tween research participant and investigator occur online. Some of these shifts are considered below.
A. Shift in the Scope of Use of Genomic and Personal Data
Under the typical model for recruitment for clinical research, par- ticipants are enrolled in studies with an established and IRB-approved protocol, and when that study ends, they are no longer research par- ticipants. However, once a PGT company has access to one’s ge- nomic data and the results of surveys revealing physical, behavioral, and other personal information, it could ostensibly utilize that data in studies ad infinitum. Thus, potential participants will most likely not be signing on for a single, targeted test. Instead, participants’ genetic and phenotypic data might be used for any number of studies, focused on any number of genetic traits or illnesses, and overseen and con- ducted by any number of investigators. As with biobanked data, the use of an individual’s genomic and/or phenotypic information in in- numerable studies that were not identified at the time of enrollment challenges current expectations of how research protocols are defined and what it means to participate in research.^^
B. Shift in the Role of the Participant: Patient-Driven Research?
Many commentators have applauded the model of participant- driven research—research that is spurred by and recruited from mem- bers of online social networks—as “novel and powerful,” exclaiming that it will “increasingly come to dominate the genomic research land-
*̂ Policy for Sharing of Data Obtained in NIH Supported or Conducted Ge- nome-Wide Association Studies (GWAS), 72 Fed. Reg. 49,290, 49,291 (Aug. 28, 2007).
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scape.”^^ Scholars may welcome the idea of patient-driven research as part of the “commons-based peer production of information [and] knowledge . . .,” which permits the “emergence o f . . . radically new roles that individuals play in the production process.”^ If 23andMe’s research agenda is successful in recruiting large numbers of partici- pants, the initiative could set the stage for progress in terms of re- cruitment and enrollment.^^ Wojcicki described the shift to patient- driven research as “patient empowerment,” explaining that “[t]wenty years ago doctors had tight control over all medical information. We want that power to shift to individuals.”^*
However, it is unclear that customers who contribute genetic and personal information for research purposes are “driving” research. Under 23andMe’s Research Revolution model, collaboration con- sisted of a simple “vote” for the disease on which research would be focused—a vote purchased with both cash and release of information including genetic data, physical fraits, health history, and behavior. Thus, beyond contribution of genetic and phenotypic information, it is questionable that participants would truly be directing research. They did not have a say in the contours of the research or selection of the investigators who would conduct the studies. The power to make all these decisions remained in the hands of the research sponsor (in this case, 23andMe and its partners). Significantly, the fact that the re- search participants may never know how their information is being used in a particular study directly conflicts with the notion that par- ticipants are driving research. Thus, it is unclear whether this ap- proach to genetic research is truly democratizing, or is simply an illu- sion of collective production.
*•’ Daniel MacArthur, The Future of Participant-Driven Genomic Research, WlRED.COM (Mar. 12, 2009, 1:10 PM), http://www.wired.com/wiredscience/2009/03/The-future-of-participant-driven- genomic-research.
^ Benkler, supra note 79, at 1254-55. ^’ Daniel MacArthur, 23andMe Launches New Effort to Recruit Patients for
Disease Gene Studies, WIRED.COM (July 7, 2009, 8:00 PM), http://scienceblogs.com/geneticfuture/2009/07/23andme_launches_new_effon_to.php (“Modem genomics studies require mind-bogglingly large numbers of samples to achieve the power required to find subtle genetic associations, and recruiting those numbers of patients is far from easy.”).
^̂ Getting Personal, THE ECONOMIST, Apr. 18, 2009, at 9.
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C. Shift in the Role of the Participant: Participant Self-Organization and Self-Identification
As patients organize into online communities and self-identify for participation in research, recruitment and enrollment practices in clinical research may begin to transform.^’ For example, although research arising out of the PGT/social networking hybrid may not be as collaborative as the companies claim, the notion of having patients self-organize into an online community for a study may still elevate the participant to a position of greater authority.^^
Moreover, self-selection may cause the breakdown of the screen- ing process which has developed over the years to ensure the safety of participants as well as the reliability of the resulting data. With no one to screen participants for eligibility, the possibility of selection and attrition bias and mis- or over-reporting of symptoms and traits will likely increase, undermining the integrity of the data generated from such studies.^’ In fact, despite deCODE Genetics’ apparent en- try into the field of research in 2009, its CEO had publicly stated that such research may not be useful, because self-reported phenotypes are, by and large, unreliable.^” In addition, self-organizing might be problematic because, where participants are also providing personal information, “[u]ser-generated data is highly variable and poorly con- trolled.”” The head of exploratory clinical development at Novartis, Trevor Mündel, stated, “[i]t’s something which hasn’t been worked through, how [social networks] might worsen the accuracy of adverse- event reporting.”‘^ These concems about accuracy are compounded by the fact that, in research arising from the PGT/social networking
*” Eric S. Lander, the Founding Director of the Broad Institute of MIT and Harvard, has stated that the idea of having patients “self-organize” into an online community for a study, rather than be recruited, is “a Googley thing to do.” Pollack, supra note 14, at B9.
*̂ It has been noted that investigators may not appreciate the “intrusion” of patients or patient advocates into their research. See Do-it-Yourself Science, 449 NATURE 755, 756 (2007).
For example, as patients in the same study might communicate with and reveal significant information to one another on social networking sites, they could possibly deduce who is taking the test drug versus placebos. Kliff, supra note 62; see also Amquist, supra note 72, at D6.
Mark Henderson, Cashing in on Your Genes: Will Personal DNA Testing Soon be Big Business and Will Our Genetic Data be Safe?, TIMES (London) (Jan. 7, 2010), available at http://www.timesonline.co.uk/tol/news/science/eureka/article6975520.ece?token=null &offset=0&page=l.
” Calling All Patients, supra note 72. ‘^ Kliff, 5M/7ra note 62.
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hybrid, research participants and investigators never meet, which may further transform how participants view their own role in the research and hinder investigators’ ability to gauge the veracity of research sub- jects and the quality of the data.
D. Expectations of Care and Intensifying the Thera- peutic Misconception
The marketing and promotion for initiatives like 23andMe’s re- search agenda might mislead participants to think that, even if they may not benefit fmancially from their participation, they will benefit medically and therapeutically.”’ The promises of collaboration and democratization could exacerbate an already very real problem—the therapeutic misconception—that arises when research participants do not understand the distinction between treatment and research. This is particularly relevant where companies have two primary and seem- ingly unrelated purposes: providing genetic and ancestry information to customers and developing research databases.’^ Currently, 23andMe, Pathway. Genomics, TruGeneties, and even the PGP offer, or plan to offer, both genetic screening services and the opportunity to participate in genome-wide research. Critics of DTC genetic testing already point out that these companies may be overpromising the therapeutic advantages of these tests. When the therapeutic miscon- ception is coupled with the promises of research—which is not in- tended to provide clinical benefits—participants may become further confused or misled as to the benefits of participation.
This confusion may intensify due to the lack of mandatory genetic counseling for participants. Only some PGT companies offer any genetic counseling services.^^ For many participants, there is no one to dispel the therapeutic misconception, particularly in the absence of
‘•’ In the non-research context, most, if not all, PGT companies disclose the fact that customers should not expect medical benefits for their testing services, and that test results are no substitute for physician-provided medical care. However, in the research setting, the lines easily become more blurred.
‘”* See Paul S. Appelbaum et al.. Therapeutic Misconception in Clinical Re- search: Frequency and Risk Factors, 26 IRB: ETHICS & HUM. RES., Mar.-Apr. 2004, at 1, 1; Paul S. Appelbaum et al.. Correction and Clarification, 26 IRB: ETHICS & HUM. RES., Sept.-Oct. 2004, at 18,18.
‘^ For example, TruGenetics declares that its services will “help you explore your genes.” TruGenetics Process, supra note 18. On a separate page, TruGenetics also states that “[o]ne of the main goals of TruGenetics is to develop a unique re- search database for conducting genetic studies.” TruGenetics Terms & Conditions, supra note 19.
‘ ‘ As of this writing, these companies include Navigenics, deCODE Genet- ics, Pathway Genomics, and 23andMe.
2012] PGTandME: SOCIAL NETWORKING-BASED GENETIC TESTING 55
a physician-intermediary or investigator tài” explain test results, de- seribe research protocols, and answer questions.
IV. LEGAL, ETHICAL, AND REGULATORY CONSIDERATIONS FOR RESEARCH
These shifts in who, when, how, and where give rise to a number of practical issues, and a thorough consideration of these shifts reveals gaps in the current regulatory and legal regime for protecting partici- pants in research studies. In particular, the areas of concem include the informed consent process during recruitment and enrollment, lack of IRB oversight, and confused expectations related to therapeutic benefits. The regulatory checks and controls applied to other types of research may not be comprehensive or targeted enough to address the problems that arise out of social networking-based genetic research.
The well-known 2003 lawsuit between the Havasupai Tribe in Arizona and the Arizona Board of Regents and the University of Ari- zona and Arizona State University highlights some of the ethieal is- sues related to the collection and use of DNA samples, even without the use of social networking teehnologies. Members of the tribe al- leged that the defendants had used blood samples submitted solely for diabetes research for genetic research into schizophrenia, inbreeding, and ancient population migration.^^ Among a number of publieations and research projects that relied on the misused data were four doc- toral dissertations and a number of academic papers, many of whieh were completely unrelated to the research to which the Havasupai had agreed.’^ In April 2010, the University’s Board of Regents settled, agreeing to pay $700,000 to members of the tribe, retum the blood samples obtained between 1990 and 1994, and provide other forms of
99
assistance. Many of the ethical and legal considerations conceming the col-
lection and use of genetic and phenotypic data—particularly those related to informed consent—become even more pronounced with
” Havasupai Tribe v. Ariz. Bd. of Regents, 204 P.3d 1063, 1066 (Ariz. Ct. App. 2008). Añer the Arizona Court of Appeals ruled that the tribe eould sue the Arizona Board of Regents and the Universities, the Arizona Supreme Court agreed to hear the appeal of one of the researehers._Havasupai Tribe v. Ariz. Bd. of Re- gents, No. CV-09-007-PR, 2009 Ariz. LEXIS 82 (Apr. 20, 2009).
‘* Of partieular eoneem to the Havasupai Tribe was the faet that many of the papers related to theories about aneient human population migrations from Asia to North Ameriea, whieh is eontrary to their belief that the tribe originated in the Grand Canyon. Havasupai Tribe, 201 P.3d at 1067.
‘ ‘ Amy Harmon, Tribe Wins Fight to Limit Research of its DNA, N.Y. TIMES, Apr. 22, 2010, at AI.
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research conducted under genome-wide initiatives using online serv- ices. Some investigators have highlighted the implications of publish- ing and sharing aggregate genomic data, particularly considering that, despite aggregation, it may be possible to identify (or re-identify) an individual’s genomic data within a large pool of data.’”” The authors of one article concluded that, “the policies and practices guiding ge- nomic data sharing should continue to evolve in order to promote quality science, minimize duplicative research and merit the ongoing trust of the research subjects who consent to participate in scientific studies.”””
A. Current Human Subjects Recruitment and En- rollment Law as it Applies to Social Networking- Based Genetic Research
Commentators have noted confusion about when the federal rules and regulations governing research with humans apply to research with biospecimens and the associated data.’”^ Concems about in- formed consent for participants in research arising from PGT data- bases are particularly acute, since empirical literature indicates that most people are willing to grant consent for genetic studies.’”^ But, investigators are often not able—or not required—to obtain consent for use of collected or stored samples.
The Common Rule, the law governing human subject research in the United States for research conducted or supported by any of eight- een federal departments or agencies, regulates informed consent.’*’̂
‘”̂ Nils Homer et al.. Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays, PLoS GENETICS 1, 2, 7, 9 (Aug. 2008), http://www.plosgenetics.org/article/fetchObjectAttachment.action?uri=info%3Adoi% 2F10.1371%2Fjoumal.pgen.l000167&representation=PDF; Kevin B. Jacobs et al., ^ New Statistic and Its Power to Infer Membership is a Genome-Wide Association Study Using Genotype Frequencies, 41 NATURE GENETICS 1253, 1253 (2009); Sriram Sankararaman et al., Genomic Privacy and Limits of Individual Detection in a Pool, 41 NATURE GENETICS 965,965 (2009).
“” Jacobs, supra note 100, at 1257. ‘”̂ Maschke, supra note 75, at 11, 12-13 (“Some rules conflict with each
other, and there are differences in how the rules define ‘research,’ ‘human subjects,’ and ‘identifiable’ personal infomiation. How these terms are defined determines whether IRBs must approve biospecimen research, and whether individuals must give consent for use of their stored biospecimens or their identifiable genetic and other medical information.”).
“^ David Wendler, One Time General Consent for Research on Biological Samples, 332 BRIT. MED. J. 544, 547 (2006).
“^ 5ee 45 C.F.R. §46(2010).
2012] PGTandME: SOCIAL NETWORKING-BASED GENETIC TESTING 57
The Common Rule defines research as “a systematic investigation, including research development, testing and evaluation, designed to develop or contribute to generalizable knowledge.”‘”^ It requires that investigators explain to participants the purposes of their research, the mechanisms to ensure confidentiality, the existence of IRB oversight of the research protocol and consent process, and the risks of the re- search.’”* In terms of risk, there may be little individual physical risk in social networking-related genetic research because of the lack of clinical implications for the participant. However, individual informa- tional risks and group harms are a very real possibility.’”^ Population- based genomic research could lead to further stigmatization or dis- crimination against racial or ethnic groups.
Whether research utilizing biospecimens collected as part of a PGT service constitutes human subjects research under the Common Rule is unsettled.’ Although, in some cases, even filling out a basic paper survey falls under the umbrella of research, survey procedures are exempt from the Common Rule, unless the information is directly or indirectly identifiable and any disclosure outside the research could reasonably place the subjects at risk of liability or be damaging to the subject’s financial standing, employability, or reputation.’”‘ However, contribution of biological samples and genetic information goes be- yond simple survey procedures, and the revelation of personal behav- ioral and physical information as well as family history could easily affect employability and reputation. Guidance issued by the Office of Human Research Protections (OHRP) suggests that studies using samples that were not collected for the purpose of research “through an interaction or intervention with living individuals,” and for which “the investigator(s) cannot readily ascertain the identity of the indi- vidual(s) to whom the coded private information or specimens per- tain,” do not constitute human subjects research.”” However, com-
‘”̂ Id §46.102(d). ‘”* W. §46.116.
Laura M. Beskow et al.. Informed Consent for Population-Based Research Involving Genetics, 286 JAMA 2315, 2318 (2001); Marc D. Schwartz et al.. Consent to the Use of Stored DNA for Genetics Research: A Survey of Attitudes in the Jewish Population, 98 AM. J. MED. GENETICS 336, 336 (2001) (“[P]articipants were signifi- cantly less willing to participate in research that examined stereotypical or potentially stigmatizing traits as opposed to research that examined medical or mental ill- nesses.”).
‘”* See Christian M. Simon et al.. Active Choice but Not Too Active: Public Perspectives on Biobank Consent Models, 13 GENETICS MEDICINE 821, 821 (2011).
“^ 45C.F.R. §46.101(b)(2). OHRP, Guidance on Research Involving Coded Private Information or
Biological Specimens (Oct. 16, 2008), available at http://www.hhs.gov/ohrp/policy/cdebiol.html; see also Human Subjects Research
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mentators have noted that it is generally reeognized that informed consent is necessary before an individual contributes biological sam- ples for research. ‘ ‘ ‘
Recently proposed revisions by the Department of Health and Human Services (HHS) and the Office of Science and Technology Policy would do much to clarify the extent and scope of the Common Rule for research conducted using biospecimens.”^ The Advance Notice of Proposed Rulemaking (ANPRM) recommends the most substantive changes to the Common Rule in approximately twenty years, in response to the transforming and expanding research enter- prise. Generally, it proposes a series of modifications in order to in- crease protections of research participants while reducing burden, delay, and ambiguity for investigators.”^ First, the ANPRM would expand the scope of the Common Rule’s authority, applying the pro- tections contained therein to all studies, regardless of funding source, that are conducted at United States institutions that receive some fed- eral funding for human subjects research from a Common Rule de- partment or agency.”” Notably, it would extend the informed consent requirements for research on biospecimens and require that an indi- vidual give consent, in writing, for research use of their biospeci- mens.”^ However, the ANPRM envisions that consent may be one- time and general, rather than study specific, and would cover all fu- ture research.”* At donation, individuals may choose not to sign a
Protections: Enhancing Protections for Research Subjects and Reducing Burden, Delay, and Ambiguity for Investigators, 76 Fed. Reg. 44,512, 44,519 (July 26, 2011) (acknowledging that “the current rules… allow research without consent when a biospecimen is used for research under conditions where the researcher does not possess information that would allow them to identify the person whose biospecimen is being studied.”).
‘ ” Wendler, supra note 103, at 547. “^ See Human Subjects Research Projections: Enhancing Protections for
Research Subjects and Reducing Burden, Delay, and Ambiguity for Investigators, 76 Fed. Reg. at 44,512. The ANPRM was issued, in part, in response to allegations that “uncertainty about the regulations on biospecimens has impeded research.” Ezekiel Emanuel & Jerry Menikoff, Reforming the Regulations Governing Research with Human Subjects, 365 NEW ENGL. J. MED. 1145, 1148 (2011).
“^ See Human Subjects Research Projections: Enhancing Protections for Research Subjects and Reducing Burden, Delay, and Ambiguity for Investigators, 76 Fed. Reg. at 44,512.
“” W. at 44,528. “^ W. at 44,515. “* In a comment addressing the ANPRM, the Secretary’s Advisory Commit-
tee on Human Research Protections (SACHRP) advised against general consent for all future uses of biospecimens as a way to protect participants from harm. See Letter from Barbara E. Bierer, Chair, Secretary’s Advisory Committee on Human Research Protections, to the Honorable Kathleen Sebelius, Secretary of Health and Human
2012] PGTandME: SOCIAL NETWORKING-BASED GENETIC TESTING 59
standardized general consent form granting open-ended consent; in such cases, they may prohibit the use of their biospecimens for future research. Further, the proposed modifications would eliminate the distinction between research on biospecimens collected for research and nonresearch purposes.”^ This last point directly implicates re- seareh conducted on biospecimens collected through social network- ing PGT sites, as often these samples are not collected for the purpose of research, although the companies may then seek to use and share the data for that reason.
The Health Insurance Portability and Accountability Act (HIPAA) restricts how certain identifiable health information may be used and disclosed, ineluding for research.”^ Genetic information is protected to some extent under HIPAA, after being amended by the Genetic Information Nondiscriminafion Act (GINA) to include “genetic in- formation” as “health information.””^ However, anonymized biological material is not considered protected health informadon under HIPAA.’^” Because of the ease of re-identification
Services 43-45 (Oct. 2011), http://www.dfhcc.harvard.edu/fileadmin/DFHCC_Admin/Clinical_Trials/OPRS/Form s_Instructions/ANPRM/SACHRP_ANPRM comment.pdf (“[N]o researcher would have a reliable way of predicting, for purposes of informed consent adequate under the Common Rule, the full range of specific future uses of data and biospecimens that would be widely acceptable to American society in 25, 50, or 100 years; such a gen- eral future consent therefore could not be sufficient under the Common Rule to obvi- ate the necessity, prior to a researcher’s undertaking a later specific study, of applying to an IRB for waiver of informed consent.”).
‘ ” Human Subjects Research Projections: Enhancing Protections for Re- search Subjects and Reducing Burden, Delay, and Ambiguity for Investigators, 76 Fed. Reg. at 44,527.
“* Health Insurance Portability and Accountability Act of 1996, Pub. L. No. 104-191, 110 Stat. 1936, 2023. The HIPAA rules apply only to health plans, health- care clearinghouses, and certain health-care providers, and not all investigators are part of a covered entity. See Human Subjects Research Projections: Enhancing Pro- tections for Research Subjects and Reducing Burden, Delay, and Ambiguity for in- vestigators, 76 Fed. Reg. at 44,514. However, it has been argued that HIPAA is inef- fective in protecting personally identifiable information (PII). 5ee Arvind Narayanan & Vitaly Shmatikov, Myths and Fallacies of “Personally Identifiable Information,” COMM. ACM, June 2010, at 24, 26 (“PII has no meaning even in the context of the HIPAA Privacy Rule.”).
‘ ” Genetic Information Nondiscrimination Act of 2008, Pub. L. No. 110-233, §1180, 122 Stat. 881,904.
‘̂ ^ In July 2010, the HHS proposed two new provisions to HIPAA intended to streamline the process for obtaining informed consent for clinical trial participation and authorization for use of protected patient data and biological materials. Modifica- tions to the HIPAA Privacy, Security, and Enforcement Rules Under the HITECH Act; Proposed Rule, 75 Fed. Reg. 40,868 (proposed July 14, 2010) (to be codified at 45 C.F.R. pt. 164). The first provision allows for compound authorizations which would allow use of a single informed consent document for both enrollment in a
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(and the “impossibility” of full de-identification) of biospecimens, the July 2011 ANPRM recommends adopting the HIPAA standards for purposes of the Common Rule regarding what constitutes individually identifiable information and de-identified information, and eategoriz- ing all research involving the collection of biospecimens as well as storage and secondary analysis of existing biospecimens as researeh involving identifiable information.’^’
To the extent they do not receive federal funds for research, com- panies like 23andMe are not covered by the Common Rule. If they intend to bring a product to market, however, PGT companies may be subject to the Food and Drug Administration (FDA) human subject protection requirements, which are similar to those enumerated in the Common Rule.’^^ FDA regulations govem clinical studies submitted in marketing applications for new drugs and biological products and marketing applications and reclassification petitions for medical de- vices. Under FDA mies, there are eight basic elements of informed consent, including an explanation of the purposes of the research and the expected duration of participation, a description of the procedures to be followed, identification of any experimental procedures, a de-
The post The opportunity to use extensive genetic data, personal information, and family medical history for research purposes may be naturally appealing to the personal genetic testing (PGT) industry, which is already coupling direct-to-consumer (DTC) products with social net- working technologies, as well as to potential industry or institutional partners. appeared first on Infinite Essays.
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