You can’t change your genes, but you can change your behavior. You can take steps to prevent disease, lower your risk, or find problems early when treatments work best.
Incidental Findings in Whole Genome Sequencing
One of the most interesting things to consider as whole genome sequencing continues to develop is the sheer breadth of information that it offers for a single individual. While an X-ray can look at the bones in one body part at a time, your genome holds the information for everything from the length of your fingers and toes to the inner workings of your kidneys and heart and everything in-between. As such, the use of such research in both the clinical as well as the research settings can lead to something called “incidental findings.” For example, if a researcher is examining your whole genome for the sole purpose of finding out why it is that your fingernails grow at particularly fast rate when compared to the rest of the population, he might inadvertently also find that you are at increased risk for developing some kind of rare disease. In those cases, what should the doctor do?
This initial example is of course fictitious, but in real cases of medicine and genomic research, these issues of incidental findings can turn into heavy battles between ethical responsibility of the doctor or researcher and the autonomy of the patient who may or may not want to know any information besides what the doctor or researcher has told him he is looking for.
Let’s consider the very real and serious case of Huntington’s disease, which is a severely debilitating disease of the central nervous system that does not usually cause any symptoms until patients are in their 40’s or 50’s. Some individuals are adamant that they would want to know about such a disease so that they could properly prepare for the consequences. Others say they would rather not know they have the condition so as to avoid that fear and anxiety that would come with it. This is a very personal matter, and each individual opinion is valid, but this matter becomes complicated when considering genetic testing such as whole genome sequencing. If when examining the whole genome of an individual, it is discovered that the patient will develop Huntington’s disease, should the patient be informed?
If a doctor finds a mysterious tumor in your X-ray, then it may seem like the direct responsibility of the doctor to inform you about this incidental finding. But when the finding is not currently affecting the patient and might not do so for many years, as might be the case with incidental findings based in your genes, is the responsibility to report the finding as clear? And what if the doctor finds factors that indicate an increased risk for a disease instead of a surefire future diagnosis? How can the doctor be sure if the individual whose genome he or she is examining would want to know?
The answers to these questions are complicated, personal, and may vary from case to case and finding to finding, but they’re extremely important to consider as whole genome sequencing research advances. Many groups of experts in bioethics and genetics are already working to come up with the best and most effective recommendations for dealing with incidental findings. The American College of Medical Genetics and the Presidential Commission for the Study of Bioethics have both produced official statements and recommendations for handling these issues. The official reports can be found below as well as several articles that further explain the risks and discussion surrounding incidental findings.
Anticipate and Communicate: Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts
From the Presidential Commission for the Study of Bioethical Issues
ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
From the American College of Medical Genetics
A note from the director of the NHGRI, Eric Green, on the recommendations from ACMG: http://www.genome.gov/27553717
An Overview of Incidental Findings from Bioethics.gov: http://blog.bioethics.gov/2013/04/30/an-overview-of-incidental-findings/