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Ethicists Say Consent Protocols Need Work for Genome-wide Studies, Biobanks

This article has been corrected from a previous version that had erroneously reported that Navigenics is involved with the Mayo Clinic "ethics incubator" mentioned near the bottom of the aticle.
NEW YORK (GenomeWeb News) - The use of biospecimens in human genomics studies can bring up some prickly consent questions, particularly in genome-wide association studies and in establishing and using large biobanks, according to a panel of scientists and ethicists who met at last week’s Translating ELSI conference in Cleveland.
These issues start right at the earliest stages of the research, when scientists seeking to collect samples give potential participants consent forms that are often complicated and unwieldy, Laura Beskow told the conference attendees.
Beskow, a researcher at Duke University’s Institute for Genome Sciences and
Policy, believes that as consent forms have grown longer to account for the complexities of new uses for biospecimens, they have become less clear, less user-friendly, and potentially less effective.
Beskow said that these consent forms are difficult to read for participants who do not have reading skills beyond middle school or high school, for example. As a result, these paticipants may be unaware of what exactly the research could mean to them.
To discover ways to make consent forms clearer and more useful, Beskow worked with the Association of American Medical Colleges to start a working group on informed consent issues. Beskow also has developed a template for a consent form for the Duke Biorepository, and has been gathering empirical data about participants’ concerns.
Participants have a number of important questions that consent forms should answer regarding the use of their samples, Beskow explained. For example, do the forms specify the nature of the research, and is consent for an indefinite period of time? What kinds of confidentiality are participants granted, particularly in an environment of increasing large-scale genetic information-sharing for various studies? Beskow said these are issues that give participants pause.
People also want to know if and when they may withdraw their specimens, and if they will have access to the results of particular findings related to their genetic information.
Also, “if people are ever contacted by researchers wanting to use their samples for other studies, it should be crystal clear why they were contacted,” Burke said.  
“We need to ask what informed consent can do,” University of Washington, Seattle, scientist Wylie Burke added during the same presentation, “because the traditional consent model is not so useful for biorepositories.”
These consent issues are particularly critical when it comes to genome-wide, population-based studies that utilize electronic medical records, Burke said.
These studies present “significant new challenges” for consent and participation, she said, including questions about the management and protection of personal information, the return of findings to individuals and to groups, and the potential commercial use of information and tissues that were donated for research.
Burke added that she is involved in a Seattle-based project that will try out some different research protocol approaches, such as offering results to participants in an Alzheimer’s research project. “Returning results to patients should be a clinical utility standard,” Burke said.
She said the study will set goals for stewardship of data and samples for a biobank, and it will increase communication with participants about the research enterprise, data protection, and oversight methods.
Genome-wide association studies are ethically complex, said Mayo Clinic researcher Barbara Koenig, because they pose several challenges. First, both healthy and ill individuals must be involved in research that links personal health information with genomic data.
These studies also involve a second phase, after associations are established, that requires long-term follow-up to establish the clinical utility of the links between genetic variation and disease. Finally, predictive genomic risk information, such as risk estimates that can have high degrees of uncertainty, must be able to be communicated in the clinical setting.
Koenig, who directs Mayo Clinic’s Biomedical Ethics Research Program, is beginning work on a new project that will develop an "ethics incubator" that will focus on engaging the communities and stakeholders involved in GWAS and will integrate bioethics concepts into the research.
The incubator program will include projects addressing various phases of translational research, including a study designed to link economic data and electronic medical records. This is kind of research that is necessary to set an ethical framework for involving more people in genome-wide association research, Koenig said.
“Mayo Clinic is envisioning a future when people show up at the doctor’s office with whole-genome scans,” she explained.

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