Tuesday, March 5, 2013

The Risks of Anonymity: Research Finds Unsolicited Genetic Information about Patients


Should medical researchers inform anonymous donors about important genetic findings?  A recent article entitled “Genes Now Tell Doctors Secrets They Can’t Utter” investigates such questions. With constantly improving technological resources, medical studies are increasingly discovering unsolicited, yet significant, information about study participants.  Though some data may be trivial where the patient is concerned, studies frequently ascertain knowledge about potentially life-threatening diseases including AIDS and various forms of cancer.  While it might seem that researchers should immediately attempt to contact research patients or their families to notify them about risks of disease, signed consent forms often indicate that those who donate tissue samples will not be contacted.  These documents have been analyzed and approved by ethics boards, and thus overturning a legal agreement can involve extensive bureaucratic procedures.   
While many research institutes are now amending their paperwork to ask volunteers whether or not they wish to be contacted regarding noteworthy findings, constructing ethical guidelines has proven to be no easy task.  Often information is acquired years after samples were first collected.  Laboratories do not have funds to track down participants who may or may not want to hear about potential diseases.  Furthermore, if patients have died, the question arises of whether or not family members should be contacted as they may be at risk as well.  Often findings may have consequences that pertain to many relatives and may be relevant in family planning.  But matters are even more complicated in families with divorces or separations.  Because consent forms do not address how participants’ families should be regarded, the ethical debate cannot be easily solved.
One case in which confidentiality was breached occurred when researchers at the National Human Genome Research Institute, after consulting their ethics committee, chose to inform a young woman with a family history of breast cancer that she did not have the associated gene mutation.  This divergence from protocol was approved so as to prevent the woman from having her breasts removed out of fear of cancer. 
While this success story highlights a positive outcome of contacting anonymous participants about genetic risks, not all cases work out so favorably.  One of the problems is that research institutes cannot contact anonymous volunteers to ask if they want to be informed about significant information without implying there is something of concern.  Additionally, experimental data is never absolutely certain.  Thus many researchers feel that such matters are not in their control, and they prefer to not even attempt to approach their ethics committees with inquiries.  Sometimes it is difficult to gage the severity of a risk based on limited genetic evidence.  Other findings regarding potentially significant treatment or prevention methods can raise even more ambivalence about how to proceed.  While in some cases, the obligation to inform a participant may be obvious, most circumstances are far from clear-cut.   
The U.S. government has already begun conducting research to explore the effects of contacting at-risk anonymous study participants.  However, for the time being, laboratories continue to face these ethical dilemmas.  I think that most research volunteers, even if anonymous, would want to know about potentially life-threatening diseases.  Thus it seems morally appropriate to breach contracts to inform patients (or their families if the patient is deceased) of pertinent genetic information.  Though a chance few individuals may object to receiving unsolicited insights into their genomes, this knowledge will not kill them.  Withholding such information on the other hand could have deathly consequences.  Hopefully, consent forms will soon be amended to include more precise information about patient preferences.  Nevertheless, even if law does not yet require it, research institutes do have an obligation to tell patients if they discover a significant risk of disease. 




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