Taking Genomics to the BioBank: Access to Human Biological Samples and Medical Information

• Author: Michael J. Malinowski
• Position: J.D., Yale Law School; B.A
• Pages: 43-68

Page 43

J.D., Yale Law School; B.A., summa cum laude, Tufts University. Ernest R. and Iris M. Eldred Endowed Professor of Law, Associate Director, Program in Law, Science, and Public Health, Paul M. Hebert Law Center, Louisiana State University ("LSU") System. This presentation and related conference interactions were the foundation for Michael J. Malinowski, Technology Transfer in BioBanking: Credits, Debits, and Population Health Futures, 33 J.L. Med. & Ethics 54 (2005). This written presentation reflects valuable input received from presentations of this material at the Health Law Scholars' forum hosted by the University of St. Louis School of Law in October 2003 and at McGill University in April 2004.

I Introduction

Biobanking is the organized collection of DNA and accompanying medical information from human populations.¹ I will begin this presentation with an attempt to make biobanking as tangible as possible through an illustrative case study and discussion of the endeavor in the context of contemporary genetics research and development ("R&D") to improve human health. Second, I will place biobanking in relation to centuries of practice collecting human biological materials and using them in research, survey the associated ethical, legal, and social issues, and then address the additional dimension of considerations and complications introduced by biobanking. Third, I will touch upon the possibility of drawing from biotechnology technology transfer and development experience to introduce incentives for desirable and responsible biobanking. As I will explain, this challenge is fourfold--to think broadly and creatively (1) to identify objectives that might be accomplished through biobanking, and reach beyond the obvious when doing so, (2) to craft possible arrangements that harness commercial incentives to advance biobanking that realize at least some of those objectives, (3) to make those arrangements achievable, and (4) to thoughtfully contemplate ethical, legal, and social implications and remain attentive to human subject protections while doing so. The latter must check and shape the Page 44 former, for this exercise instills a conscience in technology transfer and development especially essential for undertakings as complicated as biobanking.

II Biobanking in the Context of Contemporary Genomics R&D

With the map of the human genome in hand,² we now hold three billion decoded base pairs and face the task of making medical meaning out of these As, Cs, Gs, and Ts.³ You have heard a lot about that already this morning.⁴ Just as a conceptual point of reference, if you were to take each of these letters and make them the size of standard letters and text, you would end up with a string of As, Cs, Gs, and Ts spanning from Portland, Oregon to Chicago, Illinois.⁵ We are finding that variations in even single letters may hold some medical meaning.⁶ How do we do all of this? Bioinformatics.⁷ Page 45

If you look back at 1990, the HGP presupposed, either naively or in a Pollyanna manner, that the effort was doable--that the necessary enabling technologies would come and within the HGP's time frame. HGP would have been an enormous "white elephant," and definitely would have taken a lot longer than it did, without the advent of a surge in Information Technology (IT) capabilities during the 1990s.⁸ And those capabilities continue to flow.⁹

Today, ongoing progress in IT, at least to some extent, fuels virtually all efforts to make medical sense out of the human genome map. We know that we grossly underestimated the complexity of the human genome--a compilation of approximately just 30,000 active genes, rather than the 100,000- 150,000 estimated throughout the mapping process.¹⁰

Reminiscent of Galileo pointing his telescope into the sky and discovering celestial "new lands,"¹¹ contemporary scientists are using bioinformatics to peer into the human genome. They are beginning to truly comprehend the extent to which the human genome is a universe that encompasses voluminous multitasking and innumerable layers of dynamic intricacy. Consequently, the science community and pharmaceutical and biotechnology sectors are more fully appreciating, and realizing, the difficulty of crafting market-scale medical applications from genetic knowledge.¹² Yet, bioinformatics is providing a means to move forward. Given IT capabilities, the pace of progress of biomedical R&D increasingly Page 46 depends upon access to human biological samples and medical information.¹³ Contemporary genomics is centering on this need, which is a trend that I believe will increase over many years in conjunction with the continued advancement of IT.

It is important to conceptually understand the scientific methodologies associated with any biobanking case study, for those tend to have a significant impact on how the banks are established and utilized. Keep in mind that there are all kinds of popular scientific methodologies in contemporary genetics R&D that could benefit from access to biobanks and, admittedly, a lot of people have reservations about the primary methodology associated with this case study that I now will address.¹⁴ That said, imagine that scientists could comb through the DNA and medical histories of whole populations of people biologically related, differentiate the sick from the healthy, and identify the predominant diseases causing ill health in the study population. Depending upon how meaningful the genetic common denominator is among members of the study population, presumably the scientists would have a better chance of figuring out which genes are involved in those targeted diseases. If the diseases also are prevalent in the general population, presumably that genetic knowledge would carry-over into broad human health use--the "big picture" goal of genomics.¹⁵ So, where can today's scientists go to undertake this kind of research? Page 47

Well, one place is a little island nation in the North Atlantic, Iceland. In many ways, Iceland is the perfect place to look for genes that cause diseases. It's got a tiny population, only about 280,000 people, and virtually all of them are descended from the original settlers, Vikings, who came here over a thousand years ago.

If you drive around this country, you will have great difficulties finding any evidence of that dynamic culture that was there for all these 1100 years. There are no great buildings; there are no monuments. But one thing Iceland does have is a fantastic written history, including almost everybody's family tree. And now it's all in a giant database. Just punch in a Social Security number and there they are, all your ancestors, right back to the original Viking.¹⁶

Now, I would like to present you with a disease study application of this methodology, still drawing from Iceland. The disease is osteoarthritis, and the case study highlights how laws were changed to create this biobank, the role of commercial interests, what the medical community's response was, and a broad sampling of ethical, legal, and social implications raised through application. So, let us return to Iceland:

NARRATOR: Stefenson is a Harvard-trained scientist who saw the potential goldmine that might be hidden in Iceland's genetic history. He set up a company called deCODE Genetics to combine ageold family trees with state-of-the-art DNA analysis and computer technology, and systematically hunt down the genes that cause disease.

STEFENSON: Our idea was to try to bring together as much data on health care as possible, as 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. See infra notes 22 and 69 and accompanying text. Page 48 much data on genetics as possible, and the genealogy, and simply use the informatics tools to help us discover new knowledge, discover new ways to diagnose, treat and prevent diseases.

NARRATOR: One of deCODE's first projects was to look for the genes that might cause osteoarthritis. Mrs. Reinheir Magnus's daughter had the debilitating disease most of her life.

MRS. MAGNUS'S DAUGHTER: The first symptoms appeared when I was 12. And by the age of 14, my knees hurt very badly. No one really paid any attention; that's just the way it was. But by the age of 39, I'd had enough, so I went to a doctor.

NARRATOR: Mrs. Magnus's daughter was never alone in her suffering. She is one of seventeen children. Eleven of them were so stricken with arthritis they had to have their hips replaced. This was exactly the kind of family that deCODE was looking for. They got Mrs. Magnus's daughter and other members of her family to donate blood samples for DNA analysis and to find more of her relatives_people she had never met. deCODE just entered her Social Security number into their giant database, and there they were. But which of these people have arthritis? To find out, Stefenson asked the government of Iceland to give his company exclusive access to the entire country's medical records. In exchange, deCODE would pay $1 million dollars a year, plus a share of any profits. That way, deCODE could link everything in their computers, DNA, health records, and family trees. This idea was probably more debated than any other issue in the history of the Republic. On the eve of the Parliamentary vote on the bill, there was an opinion poll taken which showed that 75 percent of those who took a stand on the issue supported the passage of the bill; 25 percent were against it. Among that 25 percent against the plan were most of Iceland's doctors.

AN...