Centre for Research Ethics & Bioethics (CRB)

Genetic risk: people might not know if they want to know


Biobank studies and genetic research aim at finding out the relationship between our genetic code and our diseases. Sometimes researchers find unexpected information about a participant. Asking people if they want this kind of risk information returned to them seems like a good idea. But is it fair to leave them to make that decision?

Jennifer VibergEthicists, regulations and researchers have struggled with whether or not to disclose incidental findings. There has been a shift in the discussion on incidental findings. In recent years, the focus has shifted from discussing what kind of information researchers should give participants, to asking participants what they want to know. In a recent paper in Bioethics, researchers from the Centre for Research Ethics & Bioethics (CRB) claim that shifting the responsibility from researcher to participant comes with a number of problems.

People who participate in biobank research and whole genome association studies might want to know if the researchers find out that they have genetic risk. But genetic risk information has an uncertain predictive value. We rarely get 'yes or no' answers in genetic research. Having a gene variant that is known to increase risk for a certain disease doesn't always mean becoming ill. Jennifer Viberg is one of the authors. According to her, this boils down to a question of responsibility. Leaving the decision to the participants means assuming that they know what it is that they are deciding on. But what people say they want often depends on how we ask the question.

 “If someone says they don’t want information, can we trust that their no still stands if we suddenly have information that could have real impact on a person’s life? And if someone says yes, they want to know about any incidental findings, can trust that they are aware that risk information can be difficult to interpret?” says Jennifer Viberg.

Understanding what it is you decide about isn’t easy. And just like with every other decision we make there is a big difference between a hypothetical scenario and a real life choice.

The consensus in the ethical debate is that information should be disclosed if it could somehow benefit a participant. But there is no agreement among ethicists that finding out if you have risk for disease in fact would benefit the people who participate in research.
Allowing participants to decide for themselves has been introduced as a way of getting past this disagreement. There is a trend in biobank research and genome wide association studies to let participants decide what information they want returned in the consent form. And many studies manage consent with IT solutions where participants can manage their information via user interfaces. But is it a good idea for researchers to surrender the responsibility in this way?

There is psychological research that points in another direction: Peoples' reaction to probabilities and risk involve both cognitive and emotional challenges. People tend to change their attitude to risk depending on what it is that is at stake. The mood you are in when you answer a question also affects your judgement and the choices you make. When it comes to probabilities, people have trouble estimating them and tend to underestimate high probabilities, and overestimate low probabilities. And depending on how we frame an issue, people can be steered to make specific choices.
Jennifer Viberg says that instead of empowering you, learning that you are at risk could make you anxious.

“This ‘freedom of choice’ is problematic. When we transfer the decision to participants, we also assume that they understand what it is that they make decisions about. And that their decision will reflect what they actually and truly want”, says Jennifer Viberg.

Jennifer Viberg says that we need more empirical work to find out. Participants need to be confronted with the complexity of the uncertainty and the trade-offs that genetic risk information brings.

"I will try to do that next in an empirical study. Instead of over-simplifying genetic risk information with a yes or no question we will confront participants with different choice scenarios. This way we will be able to capture participants’ trade-offs between different aspects of incidental findings, says Jennifer Viberg.

Read the article in Bioethics: Freedom of Choice About Incidental Findings Can Frustrate Participants' True Preferences

Jennifer Viberg is a PhD Student at the Centre for Research Ethics & Bioethics (CRB). This paper is part of her thesis work on how to handle incidental findings in genetic research.

The paper is written together with Pär Segerdahl, Sophie Langenskiöld and Mats G. Hansson

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