Controversies concerning the meaning of informed consent in connection with the use of genetic materials from human subjects are not new. Recent legal disputes are, however, bringing the matter to the forefront once again and raising important questions about whether researchers should be allowed to use genetic material collected for one purpose for a subsequent unrelated purpose and, if so, under what parameters.
Two controversies, while seemingly very different—one involving the routine collection of dried blood spot samples from newborns (NBS) and one involving genetic research on a large group of Native Americans—raise similar issues and questions.
Earlier this year, a dispute between members of the Havasupai tribe and Arizona State University (ASU) made headlines when the university and the tribe agreed to settle a dispute over the university’s use of genetic materials collected from a number of tribe members. The dispute arose after many Havasupai agreed to provide researchers from ASU with blood samples so that the researchers might be able to better understand the tribe’s devastatingly high rate of diabetes.
Subsequently, it was discovered that the researchers had used the samples for unrelated research including research into rates of schizophrenia (a disorder the tribe reportedly considers to be stigmatizing) and research that tracked the tribe’s genetic origins to Asia, a finding that contradicts their traditional stories and heritage. Not too surprisingly, this news was upsetting to the tribe, which subsequently issued a “banishment” order to prevent ASU employees from setting foot on their land and also filed a multimillion-dollar lawsuit against the university.
At issue in this matter was whether the participants gave effective informed consent to the subsequent research. While they reportedly signed a consent stating that their blood could be used to study “the causes of behavioral/medical disorder,” there were questions about the ability of the participants to understand the consent and many participants claimed that it was their belief that their samples would be used solely for diabetes research. Litigated for over six years, the dispute was recently settled in exchange for a payment of $700,000, an agreement to return the blood samples to the participants, and the provision of certain assistance to the Havasupai people.
On a different front, the practice of NBS sample banking is raising questions about the necessity of informed consent for subsequent genetic research and, like the Havasupai matter, is also giving rise to lawsuits. For many years, nearly all newborns in the United States have had their heels pricked so that health professionals would be able to collect a small sample of blood. Typically, the collected samples are sent to the state’s health department for health screenings, particularly for genetic disorders such as cystic fibrosis as well as for metabolic disorders. Proponents of the practice contend that the screening programs have the “ability to detect newborns who are at high risk for developing diseases with high morbidity and mortality.”
The NBS samples are retained for varying lengths of time. As genetic research capabilities have advanced, the samples have become increasingly attractive to state health department researchers and their associated research partners. In some cases the NBS samples are being used for research that goes beyond the initial health screening.
In most states parents are not informed of the retention or subsequent use of their infant’s sample nor are they asked to provide their informed consent for subsequent research uses of the samples. This has lead to concern among some parents and has also prompted lawsuits.
Last year two separate lawsuits were filed related to the NBS sampling. First in March 2009, the Texas Civil Rights Project filed a complaint on behalf of five parents in response to Texas’ practices of NBS sampling. In response, the Texas legislature rapidly passed a new law governing the collection of NBS samples, which provides that the Texas Department of State Health Services (DSHS) may retain genetic material collected through the NBS programs to conduct screenings on newborns and also gives parents the opportunity to opt out by requiring the state to destroy their child’s NBS sample.
The defendants claimed that the new law made the case moot, but the court did not agree, maintaining that the new law did not address issues related to the NBS samples already collected by DSHS. Eventually, the parties reached a settlement whereby the state agreed to destroy more than five million NBS samples collected from infants in the state over the past seven years.
A similar case arose in Minnesota later in 2009 when parents filed a complaint against the Minnesota Department of Health alleging a series of claims all related to the retention and use of their children’s NBS samples. Here, the plaintiffs were not successful—in November, 2009, the judge issued an order granting the defendants’ motion to dismiss the case. It appears that this order will be appealed so continued vigilance on the developments in Minnesota are in order.
As these cases demonstrate, researchers often find new uses for materials previously collected for other purposes. So how then should informed consent agreements be drafted? Some suggest that participants may not be willing to enter into studies that give researchers carte blanche to use their genetic information for unlimited purposes.
Additionally, there are real questions about whether a blanket consent that would allow researchers to use collected materials for any subsequent purpose, without limitation, would truly be informed consent. On the other hand, a more narrowly targeted consent form will tie researchers’ hands, rendering them unable to carry out additional research until informed consent to the new purpose can be obtained. One thing is clear—improved communications between researchers and data subjects is required.
In two out of three cases discussed herein, the plaintiffs were able to negotiate successful settlements. Does this signal a new trend? Possibly—only time will tell as additional cases are raised and considered.
Does it suggest that researchers should examine their studies and the consent forms that are used with participants with a more critical eye? Certainly. Looking beyond the legal and ethical issues at play, there is a real practical reason for this as a review of these cases suggests that disputes may be more likely to arise when participants feel that they were not adequately informed, were tricked, or were mislead.
As the cases demonstrate, researchers who fail to obtain informed consent from study participants (including by using genetic materials in a manner that exceeds the scope of the consent form executed by the participants) can leave researchers vulnerable to lawsuits and costly financial settlements and the loss of the ability to use collected material.
Genetic research depends upon the voluntary participation of large numbers of human subjects. If researchers are not able to make a sufficient number of qualified subjects comfortable about participating, the ability to conduct effective research will be compromised.
Ultimately, a broader solution will be needed, but unfortunately this might not be accomplished easily or quickly. This reality is evident in the fact that there is still no consensus, either internationally or at the national level in the U.S., about the precise nature of the consent that will be required for researchers to collect and maintain genetic materials and study such materials for various unrelated purposes.
Increasingly, there have been proposals for international standardization of consents and, given the interconnectedness of our world, this approach may hold the most promise, even though, admittedly, the actual achievement of international consensus is likely to be a long way off.