The Finding You Weren’t Looking For

Imagine you are enrolling participants for research on a hereditary disease. Part of the investigation involves extensive genome sequencing to identify novel causal genes. Then you “accidentally” stumble upon a gene mutation in one of the participants that has no relationship to the disease of interest, but does substantially increase the risk of a different serious disease…

In most European countries, the policy is only to report such unsolicited, or incidental, findings if they are clinically actionable. If, on the other hand, there are no treatment options for the condition, the study participant does not have to be informed. In fact, researchers are urged to be as conservative as possible and take all possible measures to avoid being confronted with such a finding – but, unfortunately, that is easier said than done.

To make life easier for those conducting such studies, ethics scientists in the Netherlands have developed guidance for the detection, management, and communication of incidental findings (1,2). This is a major step forward in making researchers aware of the possibility of incidental findings, and of how to handle them when they arise. That is why the Patient and Public Advisory Council for Biobank Research (3) enthusiastically encourages the use of the guide. We would also like to encourage researchers to ask, “Could we be less conservative?” For example, could you consider including participants in setting up policies and study designs?

Current times might ask for a pinch of liberalization for several reasons. First, large scale omics approaches, big data, and a learning healthcare system are all closing the gap between healthcare and research – and will increase chances of incidental findings. Second, patients and citizens are better informed, more involved, and better equipped than they were only a few short decades ago when it comes to their own health. Third, they are more assertive, and eager to collect all possible information to make their own health-related decisions. Fourth, the time, place, and clinicians involved in the diagnosis can also “make or break” the issue. And, finally, other factors – for example, family (planning), life(style) and career choices, and finances are becoming just as relevant to treatment decisions as the medical criteria for whether or not something is clinically actionable. And that’s why it’s relevant and valuable for individuals to have all the information related to their own health.

Notably, we do not deny that people have the right not to know. Nor do we envision that all individual data from research will be shared. We do stress, however, the importance of considering this issue before starting a study, and the helpfulness of using the guide to implement a tailored solution. It is particularly important to involve representatives of the envisioned healthy and patient participant groups. Such partnerships will aid in ensuring that relevant and comprehensible information about unsolicited findings reaches the participants.

With these considerations, the current European default (“no reporting unless”) may change into a strategy of reporting when informed representatives of the ultimate stakeholders consider the data relevant. Informed consent procedures may include a range of options for reporting research data (from “I don’t want to know” to “only when actionable” to “as much as possible”). We’re moving toward a possible new model – not the traditional study format in which results are returned to patients, but one with active participants who take it upon themselves to seek access to results. This will empower patients and citizens to better manage their own health data, and it will help researchers to fit procedures for informing participants to the needs and wishes of those participants.