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Wanted: human biospecimens.

Collecting and using tissue, blood, urine, and other human biospecimens for various types of research is not new. But for personalized medicine to realize its potential, researchers will need thousands more of these samples for genetic studies. And the particular nature of genetic research--the sensitivity of the information it reveals--has raised a host of ethical questions, some which are new to human subjects research. What counts as informed consent when a biospecimen may be stored for years and used for unforeseen research? How freely can the biospecimens and the genetic information they contain be shared with other researchers? If research uncovers a genetic risk factor or some other important medical information about an individual, should that person be told?

Biospecimens are collected and used in a number of different ways. Sometimes researchers ask individuals to contribute biospecimens for a specific type of genetic study. For example, the National Cancer Institute is recruiting thirty-five hundred patients with inherited urologic malignancies and their relatives to provide blood and tissue samples for a study on the genetic contributions to these cancers. (1) Researchers also ask patients enrolled in clinical drug trials, especially cancer studies, to contribute biospecimens to learn more about the genetic contributions to their disease. A different approach is to ask individuals to donate their biospecimens to a large biorepository, or biobank, to be used for unspecified future research.

The UK Biobank, launched in 2006, was one of the first large-scale, population-based biobanks. It announced recently that it reached its goal of obtaining biospecimens from five hundred thousand Britons aged forty to sixtynine for "a diverse range of research intended to improve the prevention, diagnosis and treatment of illness, and the promotion of health throughout society." (2) In addition, these individuals answered questions about their health, lifestyle, diet, memory, work, and family history. Their blood pressure, pulse rate, height, weight, body fat, vision, fitness, grip strength, bone density, and lung function were measured, as well. Similar biobanks have emerged in the United States, including the Personal Genome Project, the NuGene Project, Mayo Clinic Biobank, and Kaiser Permanente's Research Program on Genes, Environment and Health.

Something Old, Something New

With the growing practice of storing biospecimens, sharing them, and using the materials and their genetic data over time, researchers, ethics oversight bodies, regulatory officials, and the public have had to take a new look at some of the core ethical issues involving research with humans. Those issues were rendered in vivid detail with the story of Henrietta Lacks, a poor black woman whose normal and cervical cancer tissue were given to researchers without her consent. Her cells, known as the HeLa cell line, have been used by researchers for over fifty years for a multitude of studies, including research related to the first polio vaccine, as well as cancer and AIDS-related studies.

Familiar ethical issues related to research keep cropping up in the context of storing and sharing biospecimens and genetic data. These include concerns about ethics review and approval of proposed studies, informed consent of research participants and surrogates, and the privacy and confidentiality of research data and participants' other personal and health information. Yet biospecimens and genetic data are not the living, identifiable humans that federal research regulations were designed to protect. And the traditional concept of consent as an agreement to participate in research after being informed about the purpose of

a specific study--how long it will last, how many people will participate, and the potential risks and benefits of participation--isn't a good fit for research with bodily materials and data stored for multiple future purposes, some unforeseeable. The difficulty of this fit was underscored by the dispute between the Havasupai Indian tribe in Arizona and Arizona State University researchers. Tribal members who provided biospecimens for diabetes research sued the university and the researchers when they discovered that their biospecimens had also been used for schizophrenia and ancestry studies. Last spring the university agreed to a financial settlement with the members, who contended that they had not given permission for their biospecimens to be used for those types of studies.

Another new dimension on an old theme involves the privacy and confidentiality of individuals' genetic information. Recent studies show that even when an individual's genomic sequence data is stored without personal identifiers like a name or social security number in an aggregated genomic database, it may still be possible to identify the individuals. (3) Finally, the traditional practice of not giving research participants any information from a study that relates specifically to them is being reevaluated in the context of genetic research. In traditional drug studies, researchers collect data on efficacy or different doses for a defined population and specified conditions, not for individual trial participants. But when researchers analyze an individual's DNA, they obtain genetic information unique to that person. This information could be an elevated risk for a type of cancer, for example. Yet there are no national standards for determining if and when re searchers should give individuals the results of genetic testing conducted in the research context.

The Shifting Terrain for Consent, Privacy, and Research Results

Some genetic research initiatives in the United States, like the Personal Genome Project and the Mayo Clinic Biobank, and some genetic studies that recruit participants for clinical drug trials use the same "broad consent" approach that the UK Biobank does. The consent forms explain that the biospecimens will be stored for researchers to use when needed for whatever type of study they're conducting. The broad consent approach maximizes the use of biospecimens and alleviates some of the problems that arise when researchers want to use stored biospecimens obtained without consent or with vague consent. Other approaches include "specific consent" and "tiered consent." Many researchers collect biospecimens for a specific purpose, which means that individuals give consent to use their biospecimen only for that purpose. With the tiered approach, the consent form lists different types of research for which individuals can permit or restrict the use of their biospecimens.

Federal human research regulations offer little guidance on which kind of consent approach to use. That is because these regulations don't apply to biospecimens and associated data that are considered unidentifiable when certain conditions are met. For example, institutional review boards are not required to review and approve the use in research of leftover biopsy samples with identifiers removed, and researchers are not required to get informed consent to use them. While some institutions notify patients in surgical and other clinical consent forms that leftover tissue will be stored for research, it's unclear whether such notification is standard practice. If institutions do notify patients, should they also give them the opportunity to refuse to have their biospecimens stored and used in research? There is no legal requirement for institutions to do this, but what is legal may not satisfy everyone.

There have been a number of recent disputes involving genetic research without parents' consent on stored newborn screening blood spots. In the forty-plus years that states have mandated newborn screening for various genetic and other disorders, most parents have never been told what happens to their child's leftover blood spots. And with few exceptions, newborn screening programs have not asked parents for consent to store unidentifiable leftover blood spots or to give them to researchers. But last year, in response to parents' complaints about the use of residual blood spots for research without their consent, the Texas Civil Rights Project, an advocacy group, filed a federal lawsuit against the Texas newborn screening program. Similar disputes have occurred in other states. In response, several newborn screening programs now let parents decide whether they want their children's leftover blood spots to be stored for research or destroyed.

Although the parents involved in the newborn screening lawsuits were angry that blood spots were used for research without consent, many were also concerned about the privacy and confidentiality of their children's genetic information. And public surveys continue to show that many people are afraid that their genetic information will be used in ways that might harm them. To allay some of those fears, Congress passed the Genetic Nondiscrimination Act (GINA) in 2008. The law prohibits health insurers from using the information from a genetic test as a reason to deny health insurance to individuals or as a basis for how much they pay for health insurance. GINA also prohibits employers from using genetic information in making decisions about an individual's employment. Nonetheless, GINA does not provide comprehensive genetic privacy protections.

The old practice of not giving individuals the results of genetic research tests is also changing. Despite concerns about the clinical validity and utility of genetic test results obtained in the research context, (4) many commentators now argue that there are ethical and legal obligations to give individuals their test results under some circumstances (5)--for instance, when results could have an impact on their health or reproductive decisions. Surveys indicate that many people want to know what researchers find when they analyze their DNA, and some say that obtaining the genetic test results would influence their willingness to provide biospecimens for research. With these considerations in mind, the Mayo Clinic Biobank created a Biospecimen Trust Oversight Group to determine when biospecimen contributors should be offered the results of genetic research tests. Other initiatives tell people at the time they contribute a biospecimen for research that they can get their genetic test results if they want them. (6)

Collecting biospecimens for genetic research may eventually become routine practice in many health care settings. Even so, researchers, IRBs, federal regulators, and the public will continue to grapple with complex ethical and policy dilemmas that inevitably arise when conducting research with human biospecimens.

Karen J. Maschke, "Wanted: Human Biospecimens," Hastings Center Report 40, no. 5 (2010): 21-23.

(1.) Genetic Study of Patients with Inherited Urologic Malignancies, Identifier NCT00019617,


(3.) N. Homer et al., "Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays," PLoS Genetics 4, no. 8 (2009): 1-9.

(4.) V. Ravitsky and B.S. Wilfond, "Disclosing Individual Genetic Results to Research Participants," American Journal of Bioethics 6 (2006): 8-17.

(5.) I. Kohane and P.L. Taylor, "Multidimensional Results Reporting to Participants in Genomic Studies: Getting it Right," Science Translational Medicine 2, no. 37 (2010): 1-4; I. Kohane, et al., "Reestablishing the Researcher-Patient Compact," Science 316 (2007): 836-37.

(6.) N. Eriksson et al., "Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits," PLoS Genetics 6, no. 6 (2010): 1-20.
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Title Annotation:Essays
Author:Maschke, Karen J.
Publication:The Hastings Center Report
Article Type:Report
Geographic Code:4EUUK
Date:Sep 1, 2010
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