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Informed Consent in the Genomics Era

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photo credit: Alfred Hermida via photo pin cc

By:  Katia Garcia-Crespo

Rapid progress in genomics research has been fueled by new technologies allowing rapid, low cost whole genome sequencing and has brought the promise of personalized medicine closer than ever before. However, in order for genomic data to be useful it must be linked to a donor’s clinical samples and medical history. Biobanks have become the instrument to achieve this.

Biobanks are defined as “repositories of human biological material and associated data stored for research purposes”; they are found on every continent and have grown substantially in recent years (1). As biobanks expand their archiving of biological materials related to genetic studies, ethical issues concerning the use of these materials will also increase. Although initial consent is required for storing of biological samples for research purposes, biobanks’ usefulness resides in their ability to provide materials to multiple researchers in different studies not specified on initial consent forms. Current regulations don’t provide clear guidance on obtaining informed consent for future research uses such as these.

Two recent court cases highlight the importance of obtaining appropriate consent for the use of stored biological samples. In the first case, 5 families sued the state of Texas over the use of dried blood-spot samples that had been collected for newborn genetic test screening but which had been later used in research. The families claimed that no consent had been obtained for indefinite storage and undisclosed research use. The case was settled out of court and about 5 million stored samples were destroyed (2). In response, the state of Texas passed legislation allowing for the storage of such samples, provided that parents could opt out.

In the second case, Arizona State University agreed to pay $700,000 and return blood samples to members of the Havasupai Indian tribe. Tribe members believed that they had given consent for their samples to be used in diabetes research. They signed broad consent forms, but initial communications with the tribe members only talked about diabetes. The Havasupai DNA was later used in schizophrenia, inbreeding, and evolutionary studies to which the tribe objected. (3).

In both of these cases the affected parties claimed that researchers had not been clear about what they intended to do with the samples collected. In other words, though consent was sought, it was not fully informed consent. It is clear that with greater transparency these cases could have been avoided, but what constitutes adequate informed consent is still a matter of intense debate.

To obtain informed consent researchers must provide the individuals with an explanation of the intended research and the duration of the individual’s participation in the study. Study participants must also be informed of all intended uses for their specimens. If researchers wish to use specimens for a new purpose, the participants must give additional consent for the new use (2). However, unrelated research on previously collected specimens is permitted without obtaining new informed consent as long as the samples are not identifiable and cannot be traced back to individuals. Biobanks rely upon this rule, but some argue that de-identifying a sample does not necessarily mean that the person would not object to the proposed research.

The debate lies in the approach investigators take to obtain informed consent and in how these approaches address some subjects’ concerns over future research use of their specimens. Some of the approaches taken by researchers include general, specific and tiered consent.

With general consent, at the time samples are collected study participants are asked to give permission for all future uses of their samples. This minimizes burden to investigators and facilitates extensive research use of specimens. On the other hand, it offers participants very little control over the use of their samples. In the case of specific consent, participants need to be re-contacted and asked to give consent for each new use of their specimens. This gives people more control but limits scientific use as it may be costly and impractical for researchers to constantly contact participants. Studies in the United States and Europe have found that the majority of people find general consent to be acceptable (3), but obtaining broad consent can still lead to problems, as was seen in the case with the members of the Havasupai tribe.

In a recent article published in the New England Journal of Medicine, Mello and Wolf propose tiered consent as the best way to strike a balance between respecting participants and not unduly limiting scientific advancement. With tiered consent, participants are presented with a variety of options. These can include general permission for all future use, permission for future use related only to the original study, or a specification to be contacted for any future use unrelated to the original study. As mentioned previously, general consent can lead to misunderstandings and specific consent involves too big a burden for investigators. Thus, the authors suggest that tiered consent would give subjects more control by allowing participants to narrow their permission for future use, if they so desire. While not completely eliminating the burden to researchers of specific consent, tiered consent limits research only on the samples of people that do not find general consent acceptable.

As the amount of specimens collected increases (for example The UK Biobank has collected specimens from 500,000 donors) so will the possibilities for future lawsuits. It is more important now than ever to address the issues of adequate informed consent. Consent forms will need to find a way to address the concerns of participants who feel strongly about controlling their samples while not being so cumbersome as to limit scientific advance. Also, as the Havasupai case indicates, researchers need to keep in mind cultural differences and strive for extensive community consultation (and perhaps education) before beginning a study. Better understanding of and agreement on informed consent issues is needed to keep up with the ethical challenges arising from this new genomic age.


1. Scott, C. T., T. Caulfield, E. Borgelt, and J. Illes. 2012. Personal medicine—the new banking crisis. Nature biotechnology 30: 141-147.

2. Allen, M. J., M. L. Powers, K. S. Gronowski, and A. M. Gronowski. 2010. Human tissue ownership and use in research: what laboratorians and researchers should know. Clinical chemistry 56: 1675-1682.

3. Mello, M. M., and L. E. Wolf. 2010. The Havasupai Indian tribe case-lessons for research involving stored biologic samples. The New England journal of medicine 363: 204-207.


Written by sciencepolicyforall

April 30, 2012 at 3:32 pm

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