FROM B IRTH TO DEATH AND B ENCH TO CLINIC THE HASTINGS CENTER BIOETHICS BRIEFING BOOK for Journalists, Policymakers, and Campaigns CHAPTER 3 Biobanks: DNA and Research 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, ed. Mary Crowley (Garrison, NY: The Hastings Center, 2008), 11-14. ©2008, The Hastings Center All rights reserved. No part of this book may be reproduced, stored in a retrieval system, or transmitted in any from or by any means (electronic, mechanical, photocopying, recording, or otherwise), without the prior written permission from the publisher, except for the inclusion of brief quotations in a review. We have attempted to provide complete and accurate information regarding the individuals, organizations, and agencies described in this book. However, we assume no liability for errors, omissions, or damages arising from the use of this Briefing Book. biobanks: dna and research by Karen J. Maschke 3 Framing the Issue HIGHLIGHTS With recent advances in molecular biology, human biospeci - h c mens have become enormously valuable for medical researchers. n More than 300 million biospecimens are r a Biospecimens such as blood, surgical tissue, saliva, and urine con - stored in the United States in public and e s tain genetic material that researchers analyze to identify gene private repositories known as biobanks. e r variations associated with human diseases. By identifying the n These biospecimens—human blood, surgi - cal tissue, etc.—contain genetic material d role that genes play in disease formation, researchers may be n that can be analyzed to identify gene varia - a able to develop new diagnostic tests and targeted treatments for specific diseases and to investigate how genes interact with envi - tions associated with human diseases. a n ronmental factors. This research may also open the way to “per - n These gene variations may lead to new d sonalized medicine”—treatments that are customized to a per - diagnostic tests and targeted treatments for : s son’s genetic profile (see chapter 29, “Personalized Medicine and specific diseases, as well as open the way k Genomics”). to personalized medicine. n a n Collecting and storing biospecimens raises b By 1999, over 300 million biospecimens were stored in the o ethical challenges concerning how to i United States in a wide variety of public and private repositories. b obtain informed consent, protect privacy, Most of these biospecimens were collected during routine clinical and disclose research results. and surgical procedures. 1 Over the last decade, several new pub - lic and private initiatives in the United States and elsewhere have n Other issues concern the ownership of biospecimens as intellectual property and been collecting and storing biospecimens for research purposes. government oversight of biobanks to For instance, in 2003, seven disease organizations in this country ensure ethical use of biospecimens. created the Genetic Alliance BioBank, an initiative that collects, stores, and distributes biospecimens and clinical data to researchers studying certain diseases. More recently, Children’s Hospital of Philadelphia launched a project to collect blood sam - ples from over 100,000 children for the purpose of conducting genetic research on the most prevalent diseases of childhood. The best known initiative outside the United States is the UK Biobank, a public-private partnership currently recruiting 500,000 people in the United Kingdom aged 40 to 69 years to donate blood and urine samples for long-term storage. Researchers will use these biospecimens, data derived from them, and data provid - ed by individuals at the time of enrollment to study the correla - tion between genetics, environment, and lifestyle in disease for - mation. Although the procedures for collecting biospecimens and Karen J. Maschke, PhD, Research extracting genetic information from them are relatively straight - Scholar, The Hastings Center, and Editor, forward, the ethical, legal, and social challenges associated with T IRB: Ethics & Human Research • C A maschkek@ biospecimen research are not so clear-cut. These challenges T N thehastingscenter.org, 845-424-4040, x223 include matters involving informed consent, privacy and confi - O dentiality, disclosure of research results, intellectual property, C Ellen Wright Clayton, MD, JD, Rosalind E. O Franklin Professor of Genetics and Health and biobank governance. T Policy, Vanderbilt University • ellen.clay - S T [email protected], 615-322-1186 R E Henry T. Greely, JD, Deane F. and Kate P X Edelman Johnson Professor of Law, E Stanford Law School • hgreely@stanford. Karen J. Maschke, PhD, is a research scholar at The Hastings Center and editor edu, 650-723-2517 of IRB: Ethics & Human Research. BIOBanKS: dna and RESEaRCH 11 Consent, Risk, and Privacy W HO O WNS B IOSPECIMENS ? There is international consensus that for most research with humans to be ethical, at least two Institutions with biobanks in this country usually claim owner - key requirements must be met: an ethics review ship rights over biospecimens. Legal challenges to this claim board—known as an institutional review board in have been unsuccessful. Here is a sampling of significant the United States—must review and approve a cases. study before researchers recruit participants, and n Moore v. Regents of the University of California – In participants must voluntarily consent to be in the 1990, a California court ruled that individuals do not have study. The purpose of ethics review is to ensure an ownership interest in their cells after the cells have that persons independent of the research deter - been removed from their bodies. mine that the study’s potential benefits to partici - n Greenberg v. Miami Children’s Hospital Research pants outweigh the potential risks of research par - Institute, Inc . – In 2003, a federal district court in Florida ticipation. The informed consent rule is to ensure ruled that individuals do not own their tissue samples. that individuals who enroll in a study understand n Washington University v. Catalona – In 2008, the U. S. its purpose and voluntarily agree to expose them - Supreme Court declined to review a biospecimen owner - selves to potential research risks. ship case. The question was whether individual donors Applying the informed consent rule to research who provide biospecimens for research “retain an owner - ship interest allowing [them] to direct or authorize the with biospecimens is problematic for several rea - transfer of such materials to a third party.” The court of sons. Because many stored biospecimens were col - appeals said, “the answer is no.” lected for purposes other than research—some - times during routine clinical and surgical proce - dures—individuals did not give consent for those lished “Best Practices for Biospecimen Resources,” biospecimens to be used in research. In other the National Cancer Institute permits, but does not instances, individuals may have given consent for require, the researchers it funds to use a tiered con - specific types of research with their biospecimens, sent process if appropriate for the study’s design or but later on researchers want to use them for other the biobank’s mission. With the tiered process, types of studies. Additional complexities surround - human subjects could specify the types of research ing the consent issue have to do with the use and for which their biospecimens could be used. disclosure of genetic and other identifiable medical Many commentators contend that the risk of data. harm from research with biospecimens is low and There are also ethical challenges in obtaining primarily related to the disclosure of a person’s consent when biospecimens are collected. identifiable genetic and other medical information. Individuals who provide biospecimens to the UK Thus, some claim that blanket consent is ethically Biobank give blanket consent for research with acceptable when biospecimens are collected, and their biological materials. This means that no that consent for secondary uses is not required if restrictions are placed on the types of research that there are adequate safeguards to protect the priva - can be conducted with their biospecimens. Some cy and confidentiality of identifiable medical infor - commentators contend that blanket consent does - mation. Proposed safeguards include requiring n’t meet the definition of informed consent ethics review boards to approve new studies with because individuals do not have full information stored biospecimens and associated data, deidenti - about how their biospecimens will be used. fying biospecimens and associated data with no One alternative is tailored consent, which gives means to relink them to identifiable persons, estab - individuals a choice about the specific types of lishing rules for relinking deidentified biospeci - research for which their biospecimens and related mens and associated data to identifiable persons, information can be used. For instance, an individ - and establishing security measures to minimize ual providing a biospecimen for research might unauthorized access to biospecimens and associat - authorize cancer research with the biospecimen ed data. but not diabetes research. The Genetic Alliance Because the United States has no comprehen - BioBank, which uses tailored consent, has a process sive regulatory framework that addresses these that lets researchers