This page has been archived and is no longer updated
By Janet Easler and Laura Rivard
Introduction:
Imagine you volunteer to participate in an imaging study investigating brain activity and intelligence. The radiologist reading the scans notices a tumor and immediately contacts you. In this scenario, the tumor is an example of an "incidental finding"; it is a discovery that is made during a research study that is not related to the purpose of the investigation. Most would agree that a patient should be told about potential brain tumors. However, the issue is much less clear as related to genomic information. Increasing numbers of people are having their genomes sequenced, either as part of a study or in a
Case study:
Barbara, a healthy 55-year-old female, participated in a research study investigating the genetics of multiple sclerosis in hopes of helping her son, who is affected by the disease. During the study, Barbara's entire genome was sequenced and compared with her son's genome, as well as the genomes of other study participants. The study was expected to take several years, so Barbara was surprised when she received a phone call from one of the lead researchers just a few months after donating her DNA. The researcher revealed they had some genetic information that affected her specifically and was not related to her son's MS. Barbara met with the researchers in person and learned they had discovered a mutation in her genome that affects the gene presenilin-1. As a result, she will almost certainly develop early-onset Alzheimer's disease before the age of 65. There is little medical action Barbara can take, and she is absolutely devastated by the news. She would not have pursued genetic testing for Alzheimer's disease on her own and is now distraught that she knows how, and approximately when, she will die.
References:
Green, R., & et al. ACMG recommendations for reporting of incidental findings in clinical exomeand genome sequencing. (2013)
Image credit: Mike McCune (via Flickr)
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Oh wow, this is tough!!!! I think I'm of the mindset that it's better to know the truth; that at the point other people (these researchers) knew this information, it was their responsibility to share it, no matter the psychological effect and the futility of it all. I equate it to having an unfaithful spouse, who will stay with you always and never divulge their infidelities; and who, for security reasons, you wouldn't leave even if they did -- life would be peaceful if you never knew the truth -- but I personally would rather know, even if it devastated me and darkened my world-view. Some opportunity to change how your life is lived while you have control over it can come from confronting this prognosis. I do think though, like Laura says, that patients should make the decision to be informed or not before they even submit to the test.
The current poll results illustrate how complex and intensely personal this question is. 50/50! There is no "right" answer, which shows how critical education is. We need to have measures in place that ensure patients understand the possibility of incidental findings BEFORE genomic sequencing is done. They can then decide whether or not they want to be told. In this case, I think the physician should have contacted Barbara and at least have given her the option to hear the news or not.
Question: When is ignorance bliss?
Answer: When there is no actionable choice?
This is risk/benefit conversation an enrolling institution has to have with participating patients- as the previous comment notes, most drugs available today for Alzheimer's only address and potentially improve the early symptoms. There is currently no way to arrest the disease progression or alter it's final outcome. And some will only progress thru mild cognitive impairment and no further. Many markers today only suggest a vague (can't be quanified) increased risk of disease and nothing more. Few disease states (even risk of mental disease) are defined entirely by a genotype. Often epigenetics and other environmental exposures are required. It is possibly better to live a vibrant life today then to worry about a 'maybe' and live with mental stress of helplessness. It is a personal decision- if you knew you would die tomorrow in a car crash would you still plan to come to class?
There are a lot of early stage meds for Alzheimer's but as far as i can tell they are not definitively proven to help, and some lay big claims on delaying the onset of the disease, but those are based on small samples. So I don't think knowing this information helps a person live a better life. Let Barbara live in peace and not feel doomed. Let her wait until something prompts her to ask the question herself about her genetic profile. Would telling her or her family this really help her or them? I doubt it. This knowledge seems like a negative forecast, not news you can do anything about. I wonder how many people with the same genetic profile as Barbara don't develop Alzheimer's?