A study published today in Genome Medicine describes a framework for returning ‘secondary’ or ‘incidental’ genomic findings to patients. We take a look at what the implications of this could be, both for patients and clinical researchers.
Close your eyes and imagine for a moment you’re a patient trying to decide whether to enroll in a genome sequencing project at the hospital where you’ re receiving treatment.
As part of the enrolment process it will be explained to you that information in your genome, unrelated to your disease, that might reveal you are at risk of developing another condition could be found. The so-called ‘incidental’ or ‘secondary’ genomic findings. The following questions might cross your mind: would I like to know about the risk of developing another condition? What would I do with information that indicates a high, medium or even low risk?
Open your eyes, and close them again. You are now the clinical researcher leading this genome sequencing project. Do you have an ethical obligation to return secondary findings to each patient? Will you be doing more harm or more good by returning genomic results unrelated to the disease this patient is being treated for? These are some of the questions you might start asking yourself.
The debate in the published literature and at clinical genomics conferences is formed around a range of opinions. Some favor the view that returning secondary findings from research results to patients would go against the primary aim of research. While others raise concerns that there might be an obligation to return results if they are medically relevant. And there are also those who support the decision to return results, but consider that researchers should first carefully weigh the potential harms and benefits.
To add to this debate, the American College of Medical Genetics released recommendations in April 2013, that there might be an obligation in clinical practice to actively search for 56 genes linked to 24 genetic conditions.
Although much has been speculated, the outcomes of returning secondary genomic findings to research participants are only now starting to be studied in real-life scenarios. While such studies might allow the drawing of conclusions about the risks and benefits of returning secondary genomic results, examples in the literature of studies where this was done and reports on the outcomes are still lacking.
This week, Genome Medicine published a study by the teams of Sean Grimmond, Andrew Biankin and Nicolaj Zeps describing the framework by which secondary genomic research results were returned to pancreatic cancer patients, in the context of The Australian Pancreatic Cancer Genome Initiative, and reporting the outcomes and challenges faced.
In this study, the authors analyzed sequences of tumor genomes from 285 study participants with pancreatic cancer, and found 25 secondary findings related to cancers. These results were returned to patients, with no negative outcomes to date. Using three case studies, the authors illustrate how the return of secondary findings positively influenced the understanding of cancer susceptibility, treatment and diagnosis, and they discussed the key practical challenges and ethical issues encountered during this process.
The main contribution of this study to the ongoing debate is in providing empirical data that includes the key elements of consent, analytical validity, clinical significance of results, a strategy to communicate results, and clinical support to act on the findings, demonstrating a framework that can be used to return secondary genomic findings with benefit to patients and their families.
However, there are still several remaining open questions. Would it be feasible to broadly apply this framework if we think of the cost and infrastructure required? Would the obligation of returning results be circumscribed to a single moment in time or would it extend forever? Further studies will be need to address these specific points.
This study is part of an ongoing article collection in Genome Medicine focusing on Participatory Medicine, where you can find out more about this and other related topics.