Assessing Need for Disclosure
The consensus paper mostly prescribes a 10-step process by which individual biobanks can develop their own answers. Within those 10 steps are some key answers to the questions posed. More importantly, researchers “should offer” to return IFs and IRRs that meet all of five criteria:
- findings are analytically valid
- return of findings comports with CLIA and other applicable laws
- patients have consented to receiving them
- findings are clinically actionable, allowing patients or their clinicians to “take action with significant potential to prevent or alter the course of the condition or to alter its treatment”
- findings reveal an “established and substantial risk of a serious health condition”
Researchers, the paper continues, “may return” IFs and IRRs that meet all except the “clinically actionable” standard. “Established and substantial risk of a serious health condition” is not defined in the consensus paper, however, answers are emerging from researchers and patients. In the same issue of Genetics in Medicine as the consensus paper, a team led by Robert C. Green, M.D., of Partners HealthCare Center for Personalized Genetic Medicine found that at least 80% of researchers favored disclosure to patients of 64 conditions or genes, 21 of which generated 100% agreement on disclosure.
And in a study published online March 8 by the American College of Medical Genetics, nearly all of 89 people in 10 focus groups in three U.S. cities (Washington, D.C., Philadelphia, and Denver) said they would want at least some individual research results returned. Priority was placed on results that are well understood. Interestingly, the magnitude of the risk conferred and actionability of the result were less important to participants.
Results like these suggest a rising tide favoring increasing disclosure of IFs and IRRs, even as the consensus paper urges more caution. The consensus authors are not alone: Publication of the consensus paper generated a letter from Mats G. Hansson, M.D., Ph.D., of the Centre for Research Ethics & Bioethics at Sweden’s Uppsala University, expressing a concern of many researchers toward full disclosure of IFs and IRRs.
“Assigning participants access rights to research that is not validated could be putting the cart before the horse,” Dr. Hansson wrote. “Incidental findings about an individual’s gene variants need to be verified analytically before being returned to the DNA donor. Even if a variant is accurately defined, further evidence of both clinical validity and utility are needed if its discovery is to be meaningful.”
Similarly, the consensus paper recommended against returning IFs and IRRs that offer “unlikely net benefit” for patients, “including findings whose likely health or reproductive importance or personal utility cannot be ascertained."