Biobanks Revisted

by Jeremy So, UMN Law Student, MJLSTManaging Editor

Thumbnail-Jeremy-So.jpgOn October 28, Australian researchers published new information about the genetic basis for endometriosis, a condition where the cells lining the uterus flourish in other areas of the body. The researchers, instead of recruiting their own research subjects, analyzed samples stored in biobanks in Australia, Japan, and Europe. Because of their approach, the researchers were able to identify common markers that appeared across the ethnically-diverse study population. The Australian team’s findings highlight the increasing importance of biobanks–repositories for biological research samples–which have become a valuable resource in the fields of genomics and personalized medicine

The increasing importance of biobanks was recently highlighted in a symposia sponsored by MJLST. In the accompanying Spring 2012 issue, researchers and lawyers discussed the one of the primary problem facing researchers who use biobanks: whether to return research results and incidental findings to research participants.

While the Australian researchers have decided to track down the original participants in order to share their findings, other researchers have hesitated to use the same approach. Karen J. Maschke highlighted several such reasons in her recent article “Returning Genetic Research Results: Considerations for Existing No-Return and Future Biobanks.” In the article, Maschke focuses on the approaches of American biobanks researchers, who generally do not share their results with individuals whose DNA was analyzed.

For American researchers, Maschke notes that samples stored for biobank research are regularly deidentified, making it difficult to impossible to contact the original donor. Such a system exists in part because of concerns over whether consent would be granted for samples to be used in certain types of research. Combined with conflicting interpretations of government regulations and other difficulties in actually returning sample results, researchers have hesitated to adopt a disclosure-based system for research results.

Although some may remain hesitant, cooperation between researchers and biobank participants has not necessarily led to negative outcomes.

The importance of resolving this conflict is highlighted by the increasing prevalence and importance of biobanks to scientific research. Several countries are working on expanding their biobank networks. Now, before competing standards come to dominate the field, a uniform system for the return of results should be determined and implemented.

Incidental Findings: It’s My DNA, and I Want to Know if Something is Wrong With it.

by Ryan J. Connell, UMN Law Student, Joint Degree Program Fellow, MJLST Staff

Thumbnail-Ryan-Connell.jpgAs genetic research continues to develop, researchers are more apt to make incidental discoveries in the course of the research on a subjects DNA. Susan Wolf, Founding Chair of the University of Minnesota’s s Consortium on Law and Values in Health, Environment & the Life Sciences, points out in her article “The Role of Law in the Debate over Return of Research Results and Incidental Findings: The Challenge of Developing Law for Translational Science,” that, with this development, there is a serious question that must be asked, but that the law does not really answer: do researchers have to report these incidental findings to the subject?

Is this something that necessarily must be addressed by the law? I think so. Researchers need guidance on this front. Right now if a researcher finds something that may or may not have adverse health consequences for a subject the researcher must balance competing interests. What if they do disclose the risk? Is a pure researcher qualified to evaluate medical risks? The researcher could be very wrong in their analysis; could a subject who was told that they might be at risk for a serious health problem, but was not, hold a researcher liable for emotional stress? On the other hand, if a researcher comes across some potential risks and does not tell the subject, and the subject suffers as a result, should the researcher be liable?

I think the answer to this problem lies in waivers. Before people make themselves subject to research they should sign a waiver to either not hold a researcher liable for any incidental findings reported, or agree to not receive any information about any incidental findings.

This really should be the patient’s decision. Some geneticists think that it is better not to let people know if they have a risk for Huntington’s disease, or Alzheimer’s disease because there are no interventions. Likewise some geneticists feel that they would only report a risk of cancer if it is specifically requested.

From my point of view, if my genes are used for research and the researchers find that I am at risk for something, I want to know. I don’t care if there is nothing that I can do about it; I should know about it. My personal view is not shared however, some feel like they want to contribute to research, and then they don’t want to be bothered again.

This is a complicated issue with no clear solution. How do you feel? Do you want a researcher to tell you if they think you are at risk? Would you hold a researcher liable if they mistakenly told you that you were at risk for a horrible disease? Or would you be more likely to hold a researcher liable for not telling you that you were at risk for a disease? Do you think a waiver, or some other agreement is necessary between a researcher and a subject before any research is conducted?

An Individual Right to Return of Research Results

by Keli Holzapfel, MJLST Student Editor-in-Chief

Keli-Holzapfel-Thumb-White-Back-II.pngGiven the importance of results discovered by biorepositories and their implications for an individual’s health care choices, I believe that the individual has the right to receive his results despite their lack of verification. However, this right to receive results should be premised upon the individual’s explicit consent to receive his results, and upon the understanding that by receiving these results, the burden of their verification shifts from the biorepostory to the individual.

Biorepositories are collections of biospecimens that are tested and analyzed for scientific purposes. The testing performed on these biospecimens has become the basis for development of various molecular tests, which is becoming critical for the shift toward personalized medicine. Therefore, as technology advances, the quality and management of biorepositories is becoming more important. This is especially critical for the return of accurate patient data resulting from biospecimen analysis. However, managing and conducting a biorepository in the way necessary for return of results can be very complex and expensive. There must be many measures in place to prevent mistakes in identification and to ensure the quality of the biospecimen being tested. Currently, there are many existing biorepositories that do not meet the needed Clinical Laboratory Improvement Amendments (CLIA) standards for return of results. For an in-depth discussion of the current state of biorepositiories and issues surrounding return of results, see the article “Perspective on Biorepository Return of Results and Incidental Findings” written by Steve Jewell. For an example on what biorespositories need to do to improve their management and specimen oversight, see the College of American Pathologists, Accrediation Information.

As alluded to above, some of the important questions that arise from the return of results to an individual are inherently linked to the reliability of the result. For example, what should be the necessary standard for a result to be returned to the individual? Is the current threshold for returning results too high? As mentioned, many biorepositories do not meet the necessary guidelines for CLIA certification, which is required for returning of results. This means that potentially critical information is not shared with the individual involved. Is this ethical? Should biorepositories that discover critical information be required to return results to an individual even though the results are not CLIA certified? But if the results are wrong, is the emotional distress that may ensue from the return of results as unethical as withholding the results?

Due to the current state of biorepositories, and the huge implications that return of results may have, I think the best solution is to allow for consent-based return to an individual, with the understanding that any returned result needs to be independently CLIA certified. Therefore, only individuals who consent to receive results would get them, the individuals would receive the results with the understanding they could be incorrect, and then further testing would be done to validate the results to the necessary high standards. For additional in-depth discussion of issues surrounding CLIA and non-CLIA certified return of results, see “Ethical and Practical Guidelines for Reporting Genetic Research Results To Study Participants: Updated Guidelines from an NHLBI Working Group.”

For other insights and recommendations regarding return of research results, see MLST’s Winter 2012 symposium issue, “Debating Return of Incidental Findings and Research Results in Genomic Biobank Research–Law, Ethics, and Oversight