The JASON Defense Advisory Panel, a Cold War-era think tank created to anticipate Soviet technologies and threats, submitted a report last December to the US Department of Defense, highlighting the state of genome-sequencing technologies. JASON, named after the argonaut of Greek mythology, is comprised of an anonymous group of biologists, chemists, and mathematicians, all of whom have high-level security clearance. The group's report, entitled "The $100 Genome: Implications for the DoD," recommends that the department create an infrastructure within the military to perform genetic research on military personnel. This would include policies that result in the collection of genotype and phenotype data from personnel, determining which phenotypes are of the greatest relevance to the department, and a long-term data storage and bioinformatics network. The report sternly warned that if the Department of Defense and the Department of Veterans Affairs waited even two years to initiate this process, it might place them "unrecoverably behind" in the race for personal genomic information and applications.
The Defense Department's interest in genetic testing is not new — a DNA biobank was created in 1991 for the purpose of identifying service member remains, and personnel are routinely screened for sickle cell anemia and glucose 6-phosphate dehydrogenase deficiency. However, that biobank has come under fire in the last few years, as prosecutors were allowed to access its records to identify potential suspects in military and civilian criminal cases. Military service members have also been denied benefits due to the result of genetic testing. One well-publicized case was that of former US Army Ranger Eric Miller, who was denied medical care when it was discovered that he carried the gene for Von Hippel-Lindau syndrome, a rare genetic disease that can cause uncontrolled tumor growth. Army officials maintained that because Miller was born with the mutation, they had no responsibility for his illness and medically discharged him in 2005 without disability benefits.
Although some of the JASON report's recommendations centered on the potential health benefits of whole-genome sequencing by delivering personalized medicine in the future to service members, other recommendations — including one to select phenotypes for increased operational efficiency through yet-to-be defined optimized genetic conditions and environments — caught the attention of the bioethics community.
In an August Nature Reviews Genetics paper, a group of researchers at Stanford University's Center for Biomedical Ethics expressed concerns surrounding the ethical, legal, and medical implications of implementing whole-genome sequencing initiatives in the US military. First and foremost was that unlike in the civilian world, which has laws and policies intended to protect individual rights and privacy, military personnel live and operate in a culture of strict obedience. This raises serious questions as to whether informed consent could ever be voluntary and what laws, if any, exist to protect service member rights in a military research context.
"As a civilian, you can say 'No' if you don't like the study and what results they're giving you, but individual military service members have a lot less control over that sort of thing," says Megan Allyse, a postdoctoral fellow at Stanford University's Center for Biomedical Ethics and co-author on the paper. "If I'm a researcher doing research on members of the public, my only relation to them is as research participant, but in a military research setting, the researchers' relationship to the participant is also as the entity that provides their health insurance, benefits, social network, and, of course, their job."
That there seems to be a lack of uniformity when it comes to consent forms for genome sequencing studies in the civilian world certainly does not make the Department of Defense's job of establishing best practices for their studies any easier. In July, Clarissa Allen, currently an intern in the World Health Organization's Initiative on Genomics and Public Health, published a paper in BMC Medical Ethics that looked at genome sequencing study consent form data from 2004 to 2011, from 30 studies conducted in Australia, Belgium, Canada, the Netherlands, the UK, and the US. Allen and her team found that forms varied in terms of how they handled returning results, recontacting participants, and facilitating participant withdrawal.
"There was a fair amount of variation, we had all these different categories about the types of issues; we were looking at how the various consent documents handled a variety of issues, and for each of those issues we had a number of options — there weren't a lot of clear trends in terms of over time or across jurisdictions," Allen says. "There can be more than one right answer for informed consent — it's never black and white — but it is really important to get it right within a genetic testing context, especially if you're dealing with individuals in the military because it's an employer-employee relationship. They're in a position where the people who are asking them to do the genetic testing are in a position of authority in relation to them, so they are indeed a vulnerable group."
While consent forms serve a legal purpose — to protect both the participant and the researcher — they can also be designed to be informative. Allen is concerned that, given the authoritative nature of a military environment, participants might be ordered to take part in a study and might not be provided with robust consent forms or background information about the study, the technology used, and the implications of results on the their own health and that of their family. "The DoD would have to make a form that's long enough so all of the pertinent information is in it, but that's short enough that personnel are actually going to read it and not just get overloaded with technical information," she says. "Effective ways of communicating the implications of the study can include using language that is accessible to a lay person, multimedia presentations, such as videos or interactive online stuff where they can learn more about the technology, what can happen to them, the dangers and benefits."
The Genetic Information Non-discrimination Act of 2008 does not cover military personnel, and because of the integrated nature of the military — where no lines are drawn between employer, healthcare provider, and insurer — genetic information quarantine on the level required by GINA is unlikely. Stanford's Allyse and her colleagues are concerned that this could lead to not only denial of benefits, but also discrimination or social stigmatization.
"One of the first things that we pointed out was the difference between research and operations. The database of the genetic samples were contributed on a mandatory basis for operational purposes, there is no informed consent, there is no research expectation — so they cannot use those samples for research, because it's a clear violation of informed consent and autonomy," Allyse says. "So our first thing was that they need to make a very clear distinction between these samples that they already have, which I understand are tempting from a research perspective, and samples that they collect in the future specifically for research, in which case they need to design an informed consent policy for them."
There is some initial data suggesting that veterans are not opposed to genetic testing in general. A 2009 study conducted by the American College of Medical Genetics surveyed 931 Veterans Affairs patients and found that 83 percent agreed with the creation of a large database of genetic information and medical records for research purposes within the VA healthcare system. But the literature is lacking more comprehensive studies of the concerns and opinions of active duty personnel on issues related to genetic testing within the military, not to mention their civilian family members.
"The largest issue with whole-genome sequencing has always been a blurring of the line between research and application, where we need a lot more basic research before we're ready to make any kind of definitive finds, before we move into individual personalized medicine," Allyse says. "There are a few very select, very penetrant findings that can make a difference in people's lives, so in a civilian context you already have a lot of contention about what is research, when is it OK to shift the results back to participants, and that is much more complicated in a military setting because you have a captive population."
The Department of Defense has not responded to multiple requests for comment regarding its reactions to the JASON report.