In the current climate, there is so much genomics data available, yet there is no thorough understanding of what that information means to the average person. Because of that, many researchers say that releasing information from a trial or study back to the participants is wrong — even if that information could help them make decisions about their health. At present, there are no hard and fast standards or practices in place to help researchers determine whether or not they should share genetic information with individuals in the event that they uncover what could reasonably be viewed as a risk-indicator for disease. This question of responsibility becomes more complex when one considers that each individual's data has possible implications not just for their health, but for the health of their family as well. In addition, the rise of personal genetic testing companies, such as 23andMe or Pathway Genomics — which have made gaining access to one's own genetic profile simply a matter of economics, sans any ethical debate — has served only to make this issue more complicated.
"Scientists have said that, statistically speaking, there are going to be many instances when somebody sees something that looks like it might have some kind of clinical meaning, such as a single Mendelian mutation that may have significance for the patient or patient's family, or other kind of information, that suggest that people may be at risk," says Karen Maschke, a research scholar at the Hastings Center, a nonpartisan research institute focused on bioethics and public policy. "At the same time, we have direct-to-consumer genetic testing companies saying 'If you pay to have your genome sequenced, we'll tell you everything.' There's this expectation, and even demand, on [the] part of the public to have access to those genetic analyses when they're in a research study, which has not been the traditional standard for research."
There are additional questions that enter this debate, such as: how should the individual participant know what the possible genetic risk marker means in that particular research context? Should the clinic divulge detailed information about its operations? How should researchers report genetic information to participants without compromising their privacy? How should that information be divulged to participants so as not to cause undue alarm? And should researchers hire an army of genetic counselors to help individuals cope with the potentially bad news?
"Some of the discourse on the science blogs includes language like 'your personal genome' and 'my personal genome,' and some of the commentary about not getting access to research results is quite the advocacy position, such as 'Why can't people get their results? It's their genome!'" Maschke says. "Many people argue that this whole debate is even conflating research with the clinic — research information with clinical information."
And then, what if the study does not get validated? "The more you think about this, and peel back the layers, the more your head starts spinning," she adds.
Figuring it out
However, some research centers are not waiting around for policy makers and working groups to arrive at a plan to deal with this quagmire. The Mayo Clinic, for example, has already attempted to grapple with the decision-making process by creating a Biospecimen Trust Oversight Group to determine when participants should be granted access to information about their samples and results. The BTOG oversees the Mayo Clinic Biobank and is composed of researchers, ethicists, physicians, and lawyers, all focused on creating policies that, in addition to dealing with donor sample and health information storage as well as regulations governing access to biospecimens, will address participant access too. Maschke says that industry initiatives, like Kaiser Permanente's Research Program on Genes, are also attempting to make headway into this area by looking at whether or not they are ethically obligated to inform participants about a particular result — whether the individual wants the information or not — and what kinds of systems need to be in place to ensure that the right people are contacted, and what the costs involved in developing and maintain such procedures are.
There are also pockets of researchers attempting to present possible concepts for delivering genetic information to individuals. In late June, a group of researchers from 23andMe, Stanford University, and Columbia University published a paper in PLoS Genetics that proposed a Web-based research framework for presenting genetic information to patients. That same month, Harvard Medical School's Patrick Taylor, a lawyer and assistant professor, together with Isaac Kohane, director of the Children's Hospital Informatics Program, published a paper in Science Translational Medicine that attempts to move beyond what the authors describe as the "current inconclusive ethics discussion" of this issue and, instead, considers the problem of studying ways to effectively communicate genetic information to the individual.
"The standards that we criticize are the last holdout of a particular view in medicine that dictates that we won't tell patient things that won't be good for them. And I don't know where we got the idea that knowledge of a gene would be so much more overwhelming than knowledge that my spouse has breast cancer — what is it about genetics that causes us to think that people have really thin skulls that will blow up if they hear something about their genes? It's really weird," Taylor says.
How to avoid harm and what policies to put in place are still the big questions that need to answered as there are currently no outcome measures to prove what are effective ways to deliver what types of genetic data — possible methods include by e-mail, through a Web-based interface, or behind a closed door from a physician or genetic counselor. Obtaining real data on how people receive information about their health is key, and Taylor says there have already been studies in this regard that have demonstrated that people can handle bad genetic news. Last year, Robert Green, a professor at Boston University's Alzheimer's Disease Center, published a paper in the New England Journal of Medicine that looked at whether there was a justification for discouraging apolipoprotein-E genotyping of patients with Alzheimer's and their family members. The study measured symptoms of stress, depression, and anxiety after a period of disclosure and nondisclosure, and found that divulging results to adult children of patients with Alzheimer's had no significant short-term psychological risks.
"Some people think genetic information is hard to interpret, and they're right to be cautious, but we're trying to approach this like a real question whereas before it was like the angels dancing on the head of a pin thing: 'This will cause harm' or 'No, it won't.' Well, let's check and see if we can control that harm because we reject a knee-jerk reaction," Taylor says. "We need to learn how to do it, only because all these rules kept us from trying before, like old standards that limit a new branch of medicine."