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The Research Ethics Blog by Bernard Lo, MD

A Biobank for Genomics Research: Do we need Patient Consent?

To facilitate clinical research, Vanderbilt University has constructed a biobank that contains DNA specimens derived from leftover blood remaining after clinical tests have been carried out, together with information extracted from the electronic medical record.  The blood would be discarded if not used for research.  All information is de-identified by the biobank before it is provided to researchers. See article.

The Vanderbilt IRB has determined that because researchers receive only de-identified information, specific projects carried out with biobank data and materials are not human subjects research, and therefore no consent is required.  Researchers who use the biobank must sign a data use agreement promising not to try to re-identify patients.  As an additional safeguard, patients may opt-out of having their blood and data placed in the biobank; about 5% of patients have done so.  Provisions to opt-out of the biobank are contained in a separate section of the Consent to Treatment / Agreement to Pay form that patients sign every year.  The program has been publicized through posters at the medical center, information pamphlets given to patients, and newspaper advertisements. 


  • Do you believe that the arrangements for this biobank are ethically acceptable?  In other words, should the federal regulations permit such arrangements? 
  • In particular, should research that involves sequencing of an entire genome be permitted on leftover blood without active, explicit consent from participants? 


I think the arrangements are perfectly ethically acceptable since the confidentiality of the subjects is well respected by the fact that the information from patients medical records as well as the left over specimens are deidentified and also the patients have an option of opting out which after adquate information which is displayed publically hence adhered to respect of persons principle. However, i feel that the consent form for the study should not really be tanged to the treatment/agreement to pay forms because it compromises the patients ability to freely accept to participate in study without having a feeling that his/her treatment is being compromised. Research for coding entire genome I think should involve consent because a persons genome is almost an identifier which can be used to re-identify the person and hence break confidentiality which is key in the respect of persons ethical principle. This is is on the background that for the authorities this would be a good tool to try and crack down on law breakers.

I found it interesting and laudable that the researchers conducted a community survey to get a sense of their patients' opinions about using leftover specimens for DNA research. A significant minority (5%) of patients were opposed to having their DNA banked, and I feel that it is important to respect these patients' autonomy. If a plan for use of specimens in research is already in place at the time of collection, it is feasible and appropriate to inform patients and allow them to refuse to participate. In low-risk projects such as this, an opt-out approach seems reasonable for cost-containment and accessibility. But I disagree with the Vanderbilt IRB's assertion that patients do not need to be informed about this project or have a right to choose whether to participate. In addition, having a mechanism for consent protects the project from lawsuits, which could prevent the project from attaining its objectives after huge amounts of resources have been invested.

De-identified specimens are human subjects and consent should be required. Simply restraining researchers from re-identifying tissue/specimen donors or blocking the sequencing of the DNA will be insufficient in being ethical. With recent advances in stem cell technology and replication science, replicated organs or even cloned individuals can be produced from these de-identified tissue/specimens. The ramifications are unfathomable.

As for my views on DNA sequencing...the idea of it may appear frightening, but prohibiting it does nothing, and yet imposes inconveniences for scientists. To match DNA, current practice more often uses single nucleotide polymorphisms (SNP’s) as opposed to sequencing. Sequencing of the DNA is actually rarely done scientifically and when used, only to provide pertinent information regarding the specimen. Of course, sequencing methods are still improving and will be done more often as it unravels maybe too much information about the specimen. Understandably, this amount of information stirs fear. However, the fear associated with DNA sequencing should be dealt with by education regarding DNA technology, dealing with this issue with the explicit rule prohibiting DNA sequencing poses an obstacle for those who are scientists and patronizes those who are not.

Vanderbilt University’s use of leftover blood from clinical specimens to create a biobank is analogous to the use of neonatal blood spots for research. In the latter case, Texas law deemed that an “opt-out” passive consent process was adequate. Vanderbilt has taken a similar approach, adding an option to opt-out of the biobank in the Consent to Treatment/Agreement to Pay form that patients sign every year. In both circumstances, it was argued the use of these clinical samples for research met ethical standards for no consent because they were deemed to be adequately de-identified and there was no physical risk to the subject. However there are two aspects of both the neonatal blood spot research and the biobank project that raise concerns: 1) Is the subject truly be “de-identified” if his entire genome is sequenced? An entire genome is as much an identifier as a birth date, social security number or fingerprint, as it is unique to the individual in question. 2) Some participants may be agreeable to having their genetic material used for certain research projects but not others. Vanderbilt has taken some steps to take both of these concerns into account. For instance searches of the de-identified data base that “return very small data sets (currently

I agree with Stephanie's concern that through genome sequencing it is possible to uniquely identify individuals. This is the technology used to rule out paternity. From an IRB perspective, what if future researchers use the genome to identify certain races and ethnicities, as was done in controversial substance abuse research involving indigenous Americans. How about if the genome data is linked to the integrated data repository as is done in the Partners Group in Boston? It may be a mistake to assume that patients won't be reidentified by removing HIPAA identifiers. What if a future researcher finds a disease association for a gene that is enriched in individuals with Norwegian, Korean and Somali ancestry?

The utility of stored serum for future testing is invaluable. We obviously can not predict which tests will be run in the future, as new study questions arise. However, it is important to summarize the types of testing that may be performed, ie testing for infectious diseases, testing for markers of disease, performing genetic studies, etc, in order to provide an overview to patients of the types of study questions that their serum may help to address. This case is reminiscent of the case we discussed in class in which stored cells were used to create embryonic stem cells with the ultimate goal for women post radiation to potentially procreate. Donating patients had no a priori knowledge that a study of this nature would be conducted. Although their tissue was de-identified, we enter a realm in which patients’ fundamental religious or spiritual beliefs may oppose “non-natural” methods of child bearing. This issue is pertinent to the Vanderbilt scenario, as genomic sequencing may violate the beliefs of the serum donors. Vanderbilt has taken appropriate measures in consenting patients for the use of their serum in future studies, although they provide no information to patients on the genres of studies that may be conducted. As highlighted above, providing a framework to patients of the types of studies that may be conducted is critical, as many studies now enter a realm of very personal religious and ethical questions. Sequencing of patients’ genomes is a very heated topic in the world of medical ethics, especially in the heart of Tennessee where the general public’s opinion of genomic research is quite conservative in nature. One way to address this issue would be for the institution’s ethical committee to delineate the types of studies that meet criteria for ethical controversy, and address these in their IRB. This process would ultimately require specific consent for use of any patient tissue in studies meeting these pre-defined criteria. This process would undoubtedly lead to a higher than 5% opt out rate, though would allow these studies to be conducted in the most ethical light. Posted by Monika Sarkar for Responsible Conduct of Research course

The applicability of stored serum for future testing is essential for helping us understand what we currently do not know. It is impossible for us to determine which test methods will be utilized and relevant for future studies, but notifying future patients of the different clinical applications their serum can accomplish can help patients be more open to storing serum. The stored serum can be tested for infectious diseases, have the serum act as biological markers of disease, etc. Another relevant purpose of storing serum, which was mentioned in a clinical case during lecture, was to create embryonic stem cells for women post-radiation, so that they can give birth to children. Even though previous donors were de-identified, the religious and political beliefs in the area of Vanderbilt are more conservative from the rest of the nation, since they view certain uses of science in a negative light. As stated in the scenario, Vanderbilt has acted on improving consent of donors by informing the donors that their serum will be used in future studies, but without actually indicating their specific purposes. One way to deal with this ethically is to inform the patients of what their serum might be applied to in a certain category and allow them to decide if donating their serum is something they would want to do. The opt-out rate would be higher, but the approach would definitely be more ethical and it gives the patient the option to choose to participate in the study or not.

The Vanderbilt University IRB was correct to conclude that the biobank materials are not equivalent to human subjects in their de-identified state. By requiring researchers to refrain from any attempts to re-establish the link between samples and patients, the biobank successfully demonstrates a high level of commitment to the protection of public health information. Furthermore, the biobank offers patients the opportunity to opt out of the program. Overall, the biobank's framework is an ethically acceptable one. However, these arrangements are not perfect. First of all, the provision to opt-out of the program is in a separate section of the consent for treatment. It makes sense that the average patient might miss this entirely, especially if biased research assistants subconsciously (or consciously) fail to point it out. Furthermore, for those patients who see the form and choose to allow the use of their materials, it is very unlikely that they understand the full impact of a discovery made using their samples. They will likely appreciate the fact that their samples are de-identified until further genetic studies reveal something that could serve as a predictor for future health outcomes. In this case the patients may ultimately feel that the researchers are withholding valuable information, rather than rejoicing at the discovery that they contributed to. In this way, the provision to prevent re-identification of patients may actually be harmful. Since the option to opt-out does not seem obvious and since it is rather unlikely that the research assistants collecting consents take the time to spin out a scenario such as the one described here, it does not seem that the federal government SHOULD permit the biobank's proposed arrangement without first demanding a more complete and careful consenting process. Lastly, the biobank SHOULD seek consent if the leftover blood is used to sequence an entire genome. Under HIPAA, if fingerprints count as personal identifiers then a fully sequenced genome must also count as a personal identifier. This dilemma is analogous to the case of the newborn screen blood spots that contain potential for full genomic identification. If parents in Texas expressed significant concern about this possibility, then it stands to reason that someone somewhere would not approve of the biobank's methods if it were to fail to obtain full consent for all possible full genome sequencing. may elicit feelings of patients are able to opt out of the biobank program, increases with potential compromise to the research. Without such a requirement, there is the possibility that the researchers' findings could be linked to an individual's risks or exposures. essentially eliminates access to information on predictor variables or risk factors that might have pointed them towards their discoveries more readily. :

After reading the article and considering the information provided about the ethical regulations in this project, to me it seems that the arrangements for conducting projects derived from this biobank are ethically acceptable as the OHRP state this kind of procedure has to be managed. Although the article stated that the study met all of the IRB requirements in terms of the guidance for human subject protection I think my main concern is that the patients are well informed (Respect for Persons principle) when considering the “opting-out” alternative. I am concerned about the fact that during the process of gathering information of patients through surveys about their perceptions of creating the DNA databank, it showed that only a minority of people could recollect the information provided (in posters at the medical center). It was after someone read information to them about it, that they were “comfortable with the idea of a DNA databank concept” (p. 363). I ask myself to what extent people can really understand the potential consequences (positive & negative) that providing DNA information could pose on them in the future, when this information is presented as a section inside of another form intended to Consent to Treatment and Agreement to Pay. I worry that it could make patients feel compelling to participate if they are confused or perceive there is a connection with receiving treatment and being willing to participate of the biobank protocol. Therefore, I think the consent form for receiving treatment should be separate from the one to participate in the biobank. There should be explicit and exhaustive information of potential benefits and risks of providing information or material (blood samples in this particular case) that could be used on secondary research (which is not the one you’re signing up for). I think that each study that uses data that can potentially lead to trace and identify a person should be requested to ask for an informed consent.