Author/s: -Evans, James P -Rothschild, Barbara B
Journal: Genetics in Medicine
Start Page: 358
The return of results (ROR) to research subjects in genetic studies has generated tremendous controversy. It is a topic that has caught the attention of a wide range of stakeholders and opinion-makers and resulted in the spilling of voluminous ink. Indeed, this month we feature an issue entirely devoted to the subject. There are many difficult dilemmas to be confronted, which, along with a number of intriguing solutions, are presented in this special issue of Genetics in Medicine.
At the risk of oversimplifying an admittedly highly complex set of issues, it may be worthwhile to start from first principles as we attempt to navigate this complicated topic. In this essay, we begin with a few well-accepted ethical principles, a consideration of the central intent of research, and the nature of those results likely to be generated in a genetic study. From that foundation, we attempt to formulate some coherent conclusions that might offer guidance to both researchers and potential subjects as we struggle with this topic.
We start with the following principles that we suspect are relatively uncontroversial:
Research is a communal endeavor, the overarching purpose of which is to advance a widely shared goal: scientific and medical progress.
Researchers have an ethical obligation to minimize harm to subjects.
When possible, subjects should benefit from the research that they enable through their participation. However, individual benefit to the subject is not the raison d’etre of research.
Subjects should be given a comprehensive description of the research in which they are asked to participate and should have a free choice of whether to participate or not.
When information of a medical nature is provided to subjects, it should be reliable, meaningful, and communicated in a responsible manner.
Transparency in the consent process is essential, including (as precisely as possible) a clear description of what kinds of results will and will not be returned.
So, beginning with these principles, how do we apply them when a subject undergoes whole-genome sequencing? After all, in any such analysis, millions of variants will be generated. How do we determine which of those results should be returned?