This document, presented by Dr. Jeffrey R. Botkin to the Council on Governmental Relations (COGR), examines the ethical, regulatory, and practical challenges associated with informed consent for secondary research using clinical biospecimens, with a particular focus on residual dried blood spots from newborn screening. It outlines evolving federal regulations and the implications of the Newborn Screening Saves Lives Reauthorization Act of 2014, which classified research with dried blood spots as human subjects research regardless of identifiability and eliminated the possibility of parental consent waiver. The pending revisions to the Common Rule and proposed federal policies further extend the definition of “human subject” to all biospecimens, potentially requiring broad consent for research use, a move opposed by groups like COGR who argue that non-identifiable biospecimens should not require consent.
The presentation reviews empirical data demonstrating that most individuals support secondary biospecimen research, desire transparency about such uses, and prefer having a choice, with a tendency toward opt-in systems. Despite this, challenges remain: the current informed consent process is criticized for its complexity, lack of evidence basis, and poor comprehension among participants, particularly when risks are very low and the research is far removed from direct patient care. Dr. Botkin discusses the Fair Transaction Model, suggesting that “fairness” and the context of risk should inform consent practices—advocating for more streamlined approaches, like notice and opt-out, in low-risk settings with strong institutional protections, provided that transparency and genuine choice are ensured. He concludes that the field is at a crossroads, requiring innovative, risk-sensitive informed consent strategies that balance respect for autonomy with the advancement of valuable research.
