Taking genomics to the biobank: Access to human biological samples and medical information

Louisiana Law Review

Volumn 66, Issue SPEC. ISS., 2005, Pages 43-67

  Malinowski, Michael J ^a  

^a LOUISIANA STATE UNIVERSITY   (United States)

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EID: 41749105270     PISSN: 00246859     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (136)

1. For an excellent, timely treatment of biobanking, see Symposium, Regulation of Biobanks, 33 J. L. Med. & Ethics 1-188 (Mark Rothstein & Bartha Knoppers eds., 2005).
2. For information about the genome map and the Human Genome Project (HGP), visit the National Human Genome Research Institute (HGRI) hompage, http://www.genome.gov.
3. A "rough draft" map of the human genome was announced on June 26, 2000, and a "first draft" was completed in 2003.
4. See Michael J. Malinowski, Law, Policy, and Market Implications of Genetic Profiling in Drug Development, 2 Hous. J. Health L. & Pol'y 31, 31 n. 1 (2002) [hereinafter Malinowski, Market Implications].
5. J. Michael McGinnis, Population Health and the Influence of Medical and Scientific Advances, 66 La. L. Rev. (Special Issue) 9 (2006);
6. Paula W. Yoon, Risk Prediction for Common Diseases, 66 La. L. Rev. (Special Issue) 33 (2006).
7. Malinowski, Market Implications, supra note 3, at 41 n. 61.
8. See generally Robert Wells, Intellectual Property/Ownership Issues, 66 La. L. Rev. (Special Issue) 69 (2006).
9. See Lars Noah, The Coming Pharmacogenomics Revolution: Tailoring Drugs to Fit Patients' Genetic Profiles, 43 Jurimetrics J. 1, 7-11 (2002).
10. In the simplest terms, bioinformatics is the integration of biology and information technology to identify gene and protein structure and function, usually with the ultimate objective of discovering drug targets or otherwise impacting human health.
11. See David E. Winickoff, Governing Population Genomics: Law, Bioethics, and Biopolitics in Three Case Studies, 43 Jurimetrics J. 187, 189 (2003).
12. See generally Wells, supra note 6.
13. See also Michael J. Malinowski, Separating Predictive Genetic Testing from Snake Oil: Regulation, Liabilities, and Lost Opportunities, 41 Jurimetrics J. 23, 26 (2000) [hereinafter Malinowksi, Snake Oil].
14. "In 1997, HGP was half-way through its 15-year duration and 90% of the project's funding had been spent just to sequence accurately 2.68% of the human genome." Malinowski, Snake Oil, supra note 7, at 26.
15. See generally Wells, supra note 6.
16. See generally McGinnis, supra note 4. Keep in mind that, while the number of genes has fallen by more than two-thirds, human diversity has remained constant-meaning that all measurable human difference is attributable to a much smaller number of genes than previously anticipated. Cf. id.
17. Galileo's findings also ran contrary to prevailing notions in science: It was inevitable, though, that one night the moon would catch his attention, and Galileo would think of pointing his telescope at its bright disk. From that moment, Galileo went on to discover new "lands" in the sky above. The craggy features of the moon surprised him, the increased number of stars he saw amazed him, but his most astounding discovery was when he realized four moons were orbiting Jupiter! Galileo published this incredible find, and the news rocked the world, because at that time people believed that everything in the sky orbited the Earth. http://www.crystalinks.com/telescopes.html.
18. Janet Woodcock, FDA Policy on Pharmacogenomic Data in Drug Development, 66 La. L. Rev. (Special Issue) 91 (2006).
19. See generally Noah, supra note 6.
20. Henry T. Greely, Population Participation and Other Factors that Impact the Compilation and the Utility of Resulting Databases, La. L. Rev. (Special Issue) 79 (2006).
21. A consideration beyond the scope of this discussion is the fact that, traditionally, diseases often have been classified based upon patient symptoms. Contemporary genetics is breaking down some of these traditional classifications by distinguishing genetic origins. For example, "breast cancer" now is known to encompass Her-2-neu related breast cancer, BRCA1-BRCA2 related breast cancer, and others. The Baylor College of Medicine has even established online-searching capabilities for breast cancer genes.
22. See Baylor College of Medicine, Breast Cancer Gene Database, http://condor.bcm.tmc.edu/ermb/bcgd/bcgd.html. Consequently, although a disease prevalent among contributors to a particular biobank may appear to be the same disease prevalent in the general population, the diseases may prove genetically distinguishable based upon characteristics idiosyncratic to the group under study. The methodology for most large-scale biobanking undertaken thus far has been to exaggerate genetic similarity among contributors in order to isolate "disease genes."
23. See infra notes 16 and 17 and accompanying text. However, biobanking is also being undertaken based upon the prevalence of disease rather than biological ties. Such an effort has been orchestrated by a commercial biobanker, Ardais Corporation, and has drawn together Harvard-affiliated Beth Israel Hospital, Duke University Medical Center, Maine Medical Center, and the University of Chicago.
24. See infra notes 22 and 69 and accompanying text.
25. Video: Nova, Cracking the Code of Life (2002) (video on file with author), available at http://www.pbs.org/wgbh/nova/genome/program.html.
26. Id. For more information about deCODE, including the studies mentioned in this excerpt, visit the company's web site at http://www.decode.com. For law-policy treatments of the deCODE case study and related controversies
27. See Henry T. Greely, Iceland's Plan for Genomics Research: Facts and Implications, 40 Jurimetrics J. 153 (2000).
28. See also Winickoff, supra note 7.
29. See generally Regulation of Biobanks, supra note 1.
30. See also Winickoff, supra note 7.
31. Michael J. Malinowski, Technology Transfer in BioBanking: Credits, Debits, and Population Health Futures, 33 J. L. Med. & Ethics 54, 56-57 (2005) [hereinafter Malinowski, Population Health Futures].
32. See id. at 57;
33. Kirk Johnson, By Accident, Utah Is Proving An Ideal Genetic Laboratory, N. Y. Times, Jul. 31, 2004, at A1.
34. Malinowski, Population Health Futures, supra note 19, at 56-57.
35. Id. at 57 n. 68.
36. See generally The Ardais Corporation Home Page, http://www.ardais.com. See infra note 69 and accompanying text.
37. Cf. McGinnis, supra note 4;
38. Yoon, supra note 4.
39. See Allen Buchanan, An Ethical Framework for Biological Samples Policy, in Research Involving Human Biological Materials: Ethical Issues and Policy Guidance, Volume II Commissioned Papers B-l (National Bioethics Advisory Commission, Jan. 2000), available at http://www.georgetown. edu/research/nrcbl/ nbac/hbmll.pdf;
40. Elisa Eiseman, Stored Tissue Samples: An Inventory of Sources in the United States, in Research Involving Human Biological Materials: Ethical Issues and Policy Guidance, Volume II Commissioned Papers D-1 (National Bioethics Advisory Commission, Jan. 2000), available at http://www.georgetown. edu/research/nrcbl/nbac/hbmll.pdf;
41. David Korn, Contribution of the Human Tissue Archive to the Advancement of Medical Knowledge and the Public Health, in Research Involving Human Biological Materials: Ethical Issues and Policy Guidance, Volume II Commissioned Papers E-1 (National Bioethics Advisory Commission, Jan. 2000), available at http://www.georgetown. edu/research/nrcbl/nbac/hbmll.pdf.
42. As Dr. Korn explained: The samples were removed for medical reasons, under sparing consent language that usually included a proviso for research and educational uses, and were submitted to the pathology laboratory for routine diagnostic evaluation, after which portions of the specimens were permanently stored as part of the patient's medical record, in accordance with sound medical practice and legal and accreditation requirements. Although not specifically collected for research purposes, these specimens have served as a rich and irreplaceable source of materials for clinico-pathological investigations that have provided over the past more than 100 years most of the vocabulary and much of the intellectual foundation of modem medicine. Korn, supra note 24, at E-23. Donor knowledge and sample identifiability are almost as varied as the repositories themselves: The individuals who are the sources of the samples are identified in some cases, not in others. Some samples were gathered during procedures (such as surgery) in which some form of informed consent was attained, some were not. Even where there was informed consent for the procedure that produced the sample, often there was no informed consent to the storage of the sample, nor to some or any possible future uses of it after storage. In many, perhaps most cases, individuals had no idea that their sample was being stored, nor any inkling that it might be used for a variety of research purposes, by a variety of individuals.
43. Buchanan, supra note 24, at B-3.
44. See Malinowski, Market Implications, supra note 3, at 46 n. 93.
45. Eiseman, supra note 24, at D-38. For contact information for organ and tissue banks on a state-by-state basis
46. See id. at Appendix 1, and the Internet site for the New England Organ Bank, http://www.neob.org.
47. See generally Eiseman, supra note 24.
48. Id. at D-7, D-40.
49. See Testimony, Human Biological Materials (Mar. 1998), http://www.georgetown. edu/research/nrcbl/nbac/transcripts/mar98/hbmr-spkrs.htm.
50. Eiseman, supra note 24, at D-9. For example, in 2000, the National Institute of Mental Health (NIMH) sold Merck, Pfizer, Millennium Pharmaceuticals, and Sandozo access to interviews, clinical data, and DNA samples from hundreds of families with Alzheimer's disease, schizophrenia, and manic-depression.
51. See Lori Andrews & Dorothy Nelkin, Body Bazaar: The Market for Human Tissue in the Biotechnology Age 25-26 (2001) (addressing realization of commercial value of this repository).
52. Korn, supra note 24, at E-23.
53. Id. at E-3.
54. Id.
55. Id. at E-4.
56. Id. at E-3. For examples that illustrate the contributions to the advancement of medicine attributable to autopsy and surgical materials
57. See id. at E-4 to E-23.
58. As highlighted by Professor Buchanan: 1) In the late 1960s, the study of samples of tissue from an unusual tumor of the vagina led to the discovery that a nonsteroidal estrogen hormone diethylstilbestrol (DES), then commonly given to women during pregnancy, is carcinogenic. 2) During the same decade a series of studies on tissue samples of precancerous lesions of the uterine cervix led to the routine use of the Pap smear, which has played an important role in the early diagnosis and more successful treatment of this type of cancer. 3) Analysis of tissue from autopsies of persons in certain occupations, such as chemical manufacturing and uranium mining, has established causal links between exposure to environmental substances and certain diseases, including a cancer of the liver known as hepatic angiosarcome and cancer of the bronchial epithelium. 4) The analysis of autopsied lung tissue from smokers played a major role in establishing that smoking causes lung cancer, that the risk of cancer increases with the duration of exposure to the chemicals contained in cigarette smoke, and that precancerous changes in the bronchial epithelium can be reversed by cessation of smoking. 5) In 1953, autopsies of young American soldiers killed in the Korean conflict revealed that atherosclerosis begins at a much earlier age than was previously thought and that blockage of arteries can be far advanced in the absence of symptoms; this research contributed to findings concerning diet and exercise which have had a major public health impact in this country, evidenced by a significant reduction in coronary artery disease. In many instances, access to stored biological samples collected over a long period has significant advantages over the exclusive use of new research protocols. Especially when the disease process under study takes place over years or even decades, studies that rely only on newly collected tissue may be very costly and produce results much less quickly than studies of stored samples. Buchanan, supra note 24, at B-13.
59. Eiseman, supra note 24, at D-41.
60. As of 1996, the System contained more than 130, 000 cases and 240, 000 specimens. See id. at D-40, D-39 tbl.8.
61. As of 1996, the Initiative had collected 164, 500 cases and more than 329, 000 specimens. See id.
62. For a discussion of genomics from the perspective of science and medicine, see McGinnis, supra note 4.
63. See generally Wells, supra note 6.
64. James D. Watson, DNA: The Secret of Life (2003).
65. This new dimension of precision is moving us closer towards pharmacogenetics, meaning health care tailored to one's genetic idiosyncracies and, ultimately, personally customized pharmaceuticals. Noah, supra note 6, at 4-11;
66. See also Malinowski, Market Implications, supra note 3.
67. Health Insurance Portability and Accountability Act of 1996, Pub. L. No. 104-191 (1996).
68. See supra note 2.
69. This legacy, in sum, is approximately three hundred million samples that have been collected over the last century-the majority held by the U. S. Government, mostly without disclosure and consent. See supra notes 28-31 and accompanying text.
70. See generally Regulation of Biobanks, supra note 1.
71. See also Malinowski, Population Health Futures, supra note 19, app. at 61 ("Select Law-Policy Challenges for Biobanking").
72. See generally Ellen Wright Clayton, Informed Consent and Biobanks, 33 J. L. Med. & Ethics 15 (2005).
73. Bartha Maria Knoppers, Overview of Law and Policy Challenges, 66 La. L. Rev. (Special Issue) 21 (2006).
74. Greely, supra note 14.
75. See generally Bartha Maria Knoppers, Biobanking: International Norms, 33 J. L. Med. & Ethics 7 (2005) [hereinafter Knoppers, Biobanking].
76. As of 2003, the contract research organization (CRO) sector was conducting forty-percent more clinical trials overseas than it had in the past. See C. Rowland, Clinical Trials Seen Shifting Overseas, Boston Globe, July 11, 2003, at C1;
77. See also Joseph A. DiMasi et al., The Price of Innovation: New Estimates of Drug Development Costs, 22 J. Health Econ. 151 (2003), available at http://www.cptech.org/ip/health/econ/dimasi2003.pdf;
78. Tufts Center for the Study of Drug Development, Backgrounder: How New Drugs Move through the Development and Approval Process (Nov. 1, 2001), http://csdd.tufts.edu/NewsEvents/RecentNews.asp?newsid+4;
79. Malinowski, Population Health Futures, supra note 19, app., nn. 146-54 and accompanying text.
80. Cf. Jeffrey D. Sachs, The End of Poverty: Economic Possibilities For Our Time (Penguin Press 2005).
81. Economist Jeffrey Sachs, head of Columbia's Earth Institute (http://www.earthinstitute.columbia.edu) and the United Nation's Millennium Development Project, has and continues to engage in considerable work centered on this question. See generally Sachs, supra note 53.
82. See generally Michael J. Malinowski, Biotechnology: Law, Business, and Regulation (Aspen 1999 & Supps. 2001, 2002, 2003, 2004).
83. If you look at the fundamental founding of the economic side, where did biotech take root? The answer is in Cambridge, Massachusetts and the San Francisco Bay area-regions where competitors came together and they, in collaboration, responded to legislative questions, including tax issues, and developed favorable laws and policies to build and maintain environments hospitable to them. On the science side, again, the same has been true and on a whole other level-for example, HGP.
84. See supra note 8 and accompanying text.
85. The SNP Consortium draws together pharmaceutical, biotech, and academic participants-many market competitors in other contexts-with the unified mission of identifying connections between variations of single letters in the genetic code and human health characteristics, such as adverse drug reactions. See The SNP Consortium, Ltd. Home Page, http://snp. cshl.org. The entity at the center of the SNP Consortium is Orchid Biosciences, Inc., and information about the effort is available at http://www.orchid.com.
86. Stanford, the University of California San Francisco, and the University of California San Diego entered into a consortium with SRI International, a nonprofit research institute, to reduce their clinical trial dependence on industry.
87. See Andrew Pollack, Three Universities Join Researcher to Develop Drugs, N. Y. Times, July 31, 2003, at C1, C2. The consortium, PharmaStart (also known as the "West Coast Clinical Trial Initiative"), was inspired by the reluctance of venture capitalists and pharmaceuticals to invest in the clinical development of academic research-especially for rare diseases.
88. Id. at C2. Similarly, in the area of screening of potential drug targets with a focus on rare diseases (e.g., Huntington's and amyotrophic lateral sclerosis), Harvard University has established the Laboratory for Drug Discovery in Neurodegeneration, and the City of Hope National Medical Center (Duarte, CA) has established a factory "to make experimental drugs for use in clinical trials." Id. Moreover, Beyond academic centers, patient advocacy groups are also taking a much more active role in sponsoring or doing research aimed at finding cures for specific diseases. And nonprofit drug organizations, backed by contributions from philanthropists, have arisen to try to develop drugs for diseases in developing countries, like malaria and tuberculosis, which tend to be neglected by pharmaceutical companies. Id.
89. See supra note 2.
90. For example, in July 2003, several leading universities announced that they, with support from the Rockefeller Foundation and the McKnight Foundation, have joined forces to share proprietary information on biotech crops and to make their patented technologies available to feed potentially millions, if not billions, of people now in need.
91. See Andrew Pollack, Universities to Share Patented Work on Crops, N. Y. Times, July 11, 2003, at A14 ("Saying the development of crops that could feed millions of people is being choked off by biotechnology patents held by large corporations, several leading universities are joining to share information on their patented technologies and make them more widely available."). Participants in this free exchange of seed and technology that could improve crop breeding include Cornell University, the University of California, the University of Florida, Michigan State University, Rutgers University, and the University of Wisconsin. Id. The methodology includes reservation of some rights for humanitarian applications and pooling patents into packages to reduce transaction costs for crop developers:
92. Corporations seeking to generate support for biotechnology have become more willing to provide royalty-free licenses to their patents for humanitarian purposes. The major companies agreed to cooperate with the African Agricultural Technology Foundation, formed this year by the Rockefeller Foundation to speed the transfer of biotechnology to Africa.. Id. Another group of academics have joined forces to trump the commercial copyright choke hold on breakthrough scientific information. This coalition, led by Dr. Harold Varmus, former director of the National Institutes of Health, seeks to create the Public Library of Science (PLoS) to overcome impediments to distribution of knowledge attributable to cost of research publications.
93. See Editorial, Open Access to Scientific Research, N. Y. Times, Aug. 7, 2003, at A22. The PLoS methodology is to establish a new series of peer-reviewed journals that will be available on the Internet free of charge and that increase dissemination of data about research.
94. See Carey Goldberg, Scientists Seek Open Access to Medical Research, Boston Globe, Aug. 14, 2003, at A1, A17.
95. The case studies include the disease group PXE and Howard University's biobanking initiative, which are discussed infra at notes 65-67 and in the accompanying text.
96. See supra note 26 and accompanying text.
97. See supra notes 16-17 and accompanying text.
98. Andrew Pollack, DNA of Blacks To Be Gathered To Fight Illness, N. Y. Times, May 27, 2003, at A1, A20 [hereinafter Pollack, DNA]. This plan consists of gathering DNA samples from 25, 000 people over five years, drawing mainly from patients at hospitals affiliated with the Howard College of Medicine and using alumni to solicit donors globally.
99. Id. at A20.
100. See the entry for "PXE" at the Cancer Web On-Line Medical Dictionary, http://cancerweb.ncl.ac.uk/cgi-bin/omd?PXE.
101. The PXE case study is presented in Winickoff, supra note 7, at 223-25.
102. Id. at 224.
103. Beth Israel announced its biobanking effort with Ardais in September 2000, and the collaboration was subsequently expanded to include Duke University Medical Center, Maine Medical Center, and the University of Chicago. See Press Release, Ardais Biospecimen Management System and Software, Ardais Corporation and Leading Medical Centers Launch Initiative to Accelerate Genomics-Based Drug Discovery (Sept. 1, 2000) http://www.ardais.com/news-events/press-releases. shtml. Ardais is a private company based in Lexington, MA.
104. See The Ardais Corporation Home Page, http://www.ardais.com. Ardais' growing collection exceeds 160, 000 samples and is attracting significant users, such as Xantos Biomedicine AG of Munich, which is using Ardais' bank "to validate drug targets in inflammatory and degenerative diseases." Jeffrey Krasner, Study By Tufts Group Says Average Cost of a Drug's Development is $897M, Boston Globe, May 14, 2003, at C4. Ardais is representative of an emerging biobanking commercial sector. This sector includes The First Genetic Trust ("First Genetic"), located in Chicago, Illinois, and Genomics Collaborative, Inc. in the Boston area.
105. See First Genetic Trust Homepage, http://www.firstgenetic.net and Genomics Collaborative, Inc. Homepage, http://www.genomicsinc.com/index.html. Like Ardais, First Genetic collects and organizes genetic information while concealing patients' identities, and one of First Genetic's ongoing projects is to create the GRAD Biobank to research in the African diaspora.
106. See First Genetic Trust Homepage, http://www.firstgenetic.net; Pollack, DNA, supra note 65, at A20. Similarly, Genomics Collaborative, Inc. is building a global repository of tissue and white blood cell samples.
107. See Jeffrey Krasner, Gene Pooling: Company Builds World's Largest Library of Genetic Material, Boston Globe, Aug. 22, 2001, at F1, F4. The company creates serum by removing all cells from blood samples, which it freezes at minus eighty degrees Celsius, and stores the tissue and white blood cell samples at minus 160 degrees Celsius in liquid nitrogen.
108. See id.
109. Winickof T, supra note 7, at 223-25.
110. Jan Moller, Charity Hospital Gets Emergency Cash Money Will Keep Three Climes Open, New Orleans Times Picayune, Feb. 21, 2004, available at 2004 WLNR 1527426.
111. Ellen Wright Clayton, Implications for Existing Law/Regulations, 66 La. L. Rev. (Special Issue) 125 (2006).
112. See generally Carla D. Pratt, Tribes and Tribulations: Beyond Sovereign Immunity and Toward Reparation and Reconciliation for the Estelusti, 11 Wash. & Lee Race & Ethnic Anc. L. J. 61 (2005).
113. Id. at 130.
114. C. F. R. §§ 493.1, 493.3, 493.5, 493.15, 493.17, 493.19, 493.20, 493.25, 493.35, 493.37, 493.39, 493.45, 493.47, 493.49, 493.51, 493.53 (1996).
115. If such an approach were adopted, perhaps we could draw from the FDA's recent experience generating new tissue product regulations? See Human Cells, Tissues, and Cellular and Tissue-Based Products, 66 Fed. Reg. 5447-01 (Jan. 19, 2001) (to be codified at 21 CFR pts. 207, 807).
116. See generally FDA Improves the Safety, of Human Cells and Tissues by Finalizing New Rules for "Good Tissue Practice", U. S. Food and Drug Administration, Nov. 18, 2004, http://www.fda.gov/bbs/topics/news/2004/NEW01137. html. For more information, visit http://www.fda.gov/cber/tissue/docs.htm.
117. See infra note 93 and accompanying text.
118. C. F. R. §§ 46.101-46.124 (2005).
119. See, e.g., National Bioethics Advisory Commission (NBAC), Research Involving Human Biological Materials: Ethical Issues and Policy Guidance (1999), http://www.georgetown. edu/research/nrcbl/nbac/hbm.pdf;
120. Helena Gail Rubinstein, If I Am Only for Myself, What Am I? A Communitarian Look at the Privacy Stalemate, 25 Am. J. L. & Med. 203, 221-22 (1999).
121. Michael J. Malinowski, Commercialization of Genetic Testing Services: The FDA, Market Forces, and Biological Tarot Cards, 71 Tul. L. Rev. 1211, 1214-15 (1997).
122. See supra notes 66-67 and accompanying text.
123. See 45 C. F. R. §§ 46.102 (g), 46.103 (b) (4), 46.103 (b) (5), 46.108 (a) (2005).
124. See also 21 C. F. R. § 50.3 (i) (2005).
125. See generally PricewaterhouseCoopers LLP, Institutional Review Board (IRB) Reference Book 11 (Michele K. Russell-Einhorn & Thomas Puglisi eds., 2001).
126. See generally Clayton, supra note 72 and accompanying text;
127. See also International HapMap Project Home Page, http://www.hapmap.org.
128. See generally Clayton, supra note 72.
129. See World Health Organization, HIV Infections, http://www.who.int/topics/ hiv-infections/en/; World Health Organization, Tuberculosis, http://www.who.int/topics/tuberculosis/en/.
130. See Knoppers, Biobanking, supra note 51.
131. See generally J. John Lee, What is Past is Prologue: The International Conference on Harmonization and Lessons Learned from European Drug Regulations Harmonization, 26 U. Pa. J. Int'l Econ. L. 151 (2005).
132. See generally Knoppers, Biobanking, supra note 51.
133. UNESCO, International Declaration on Human Genetic Data (Oct. 16, 2003), available at http://portal.unesco.org/shs/en/file-download.php/6016a 4bea4c293 a23e913de638045ea9Declaration-en. pdf.
134. CIOMS, International Ethical Guidelines for Biomedical Research Involving Human Subjects (2002), http://www.cioms.ch/frame-guidelines-nov-2002.htm.
135. World Health Organization, European Partnership on Patients' Rights and Citizens' Empowerment, Genetic Databases Assessing the Benefits and the Impact on Human Rights and Patient Rights (2003), www.law.ed.ac.uk/ahrb/publications/ online/whofinalreport.rtf.
136. McGinnis, supra note 4.