Rare genetic diseases collectively impact millions of individuals in the United States. These patients and their families share many challenges including delayed diagnosis, lack of knowledgeable providers, and limited economic incentives to develop new therapies for small patient groups. As such, rare disease patients and families often must rely on advocacy, including both self-advocacy to access clinical care and public advocacy to advance research. However, these demands raise serious concerns for equity, as both care and research for a given disease (...) can depend on the education, financial resources, and social capital available to the patients in a given community. In this article, we utilize three case examples to illustrate ethical challenges at the intersection of rare diseases, advocacy and justice, including how reliance on advocacy in rare disease may drive unintended consequences for equity. We conclude with a discussion of opportunities for diverse stakeholders to begin to address these challenges. (shrink)

As genomic science has evolved, so have policy and practice debates about how to describe and evaluate the ways in which genomic information is treated for individuals, institutions, and society. The term genetic exceptionalism, describing the concept that genetic information is special or unique, and specifically different from other kinds of medical information, has been utilized widely, but often counterproductively in these debates. We offer genomic contextualism as a new term to frame the characteristics of genomic science in the debates. (...) Using stasis theory to draw out the important connection between definitional issues and resulting policies, we argue that the framework of genomic contextualism is better suited to evaluating genomics and its policy-relevant features to arrive at more productive discussion and resolve policy debates. (shrink)

As sharing and secondary research use of biospecimens increases, IRBs and researchers face the challenge of protecting and respecting donors without comprehensive regulations addressing the human subject protection issues posed by biobanking. Variation in IRB biobanking policies about these issues has not been well documented.

The rapid advances in genomics over the last decade have come to fruition amid intense public discussions of justice in medicine and health care. While much emphasis has been placed on increasing diversity in genomics research participation, an overly narrow focus on recruitment eschews recognition of the disparities in health care that will ultimately shape access to the benefits of genomic medicine. In this essay, we suggest that achieving a just genomics, both now and in the future, requires an explicit (...) ELSI of translation—normative and pragmatic scholarship that embraces the interconnectedness of research and clinical care and centers the obligations of researchers, institutions, and funders to mitigate inequities throughout the translational pipeline. We propose core principles to guide an ELSI of translation and to ensure that this work balances the value of the generalizable knowledge that genomics research generates and the value of the individuals and communities who make this research possible. (shrink)

This article provides practical guidance for researchers who wish to enroll and collect data from pediatric research participants through online and mobile platforms, with a focus on the involvement of both children and their parents in the decision to participate.

Background The literature on the ethics of biobanking often overlooks the practical operations of biobanks. The ethics of stewardship requires that biobank resources are used to conduct beneficial science. Networked biobanks have emerged to increase the scientific benefit of biobank resources, but little is known about whether and how operations of networking may accomplish this goal.Methods As part of a larger study on the ethical, legal, and social implications (ELSI) of networked biobanking, we conducted 38 interviews with representatives of 31 (...) networked biobanks. Interviews explored operations of the networks. We used thematic analysis to examine how respondents describe three topics associated with stewarding biobank resources—funding, utilization, and sustainability.Results Our results highlight that funding, utilization, and sustainability are critical not only to the operation of biobanks, but also to the ethical obligations that biobankers owe to stakeholders to steward the resources. Based on prior research, we hypothesized that respondents would describe networking as beneficial to increasing funding, utilization, and sustainability of the network. Respondents generally found value in networked biobanking, but networking did not necessarily increase funding, utilization, and sustainability.Conclusion The results presented here support inclusion of funding, utilization, and sustainability as topics of ethical concern in the practice of biobanking and networked biobanking. These issues are rooted in the stewardship obligations that biobankers feel to their partners, client investigators, and participants. The goal of promoting stewardship through networking requires significant time and effort to build governance models that honor the obligations of each individual biobank to their donors and advance the collective goals of the network. We conclude with suggestions offered by respondents to address improving these aspects of stewardship. (shrink)

In the article, “Precision Medicine for Whom? Public Health Outputs from “Genomics England” and “All of Us” to Make Up for Upstream and Downstream Exclusion,” Galasso focuses on how marginalized pe...

The COVID-19 pandemic has resulted in widespread disruption of the typical way of doing things. In nearly every industry, responses to the pandemic have brought about departures from standard opera...

There may be compelling reasons to return to parents a limited subset of results from research conducted using residual newborn screening dried blood samples. This article explores the circumstances under which research results might be returned, as well as the mechanisms by which state newborn screening programs might facilitate the return of research results. The scope of any responsibility to return results of research conducted using DBS should be assessed in light of the potential impact on the primary mission of (...) state newborn screening programs. (shrink)