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 sixty-nine 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...