Thought leader perspectives on benefits and harms in precision medicine research

Abstract

Precision medicine research is underway to identify targeted approaches to improving health and preventing disease. However, such endeavors raise significant privacy and confidentiality concerns. The objective of this study was to elucidate the potential benefits and harms associated with precision medicine research through in-depth interviews with a diverse group of thought leaders, including primarily U.S.-based experts and scholars in the areas of ethics, genome research, health law, historically-disadvantaged populations, informatics, and participant-centric perspectives, as well as government officials and human subjects protections leaders. The results suggest the prospect of an array of individual and societal benefits, as well as physical, dignitary, group, economic, psychological, and legal harms. Relative to the way risks and harms are commonly described in consent forms for precision medicine research, the thought leaders we interviewed arguably emphasized a somewhat different set of issues. The return of individual research results, harm to socially-identifiable groups, the value-dependent nature of many benefits and harms, and the risks to the research enterprise itself emerged as important cross-cutting themes. Our findings highlight specific challenges that warrant concentrated care during the design, conduct, dissemination, and translation of precision medicine research and in the development of consent materials and processes.

Developing model biobanking consent language: what matters to prospective participants?

“…This could be an artifact of our study design, i.e., that the highlighting activity itself (unlikely to be replicated in an actual consent process) served to engage participants in carefully considering the information in the form. Regardless, the values questions we devised were not intended to change participation decisions per se, but rather to be as neutral as possible and based on evidence generated in empirical research with a diverse group of prominent experts and scholars in the areas of ethics, genome research, health law, historically-disadvantaged populations, informatics, and participant-centric perspectives, as well as government officials and human subjects protections leaders [5,15,16]. Our goal was to create a simple tool that would prompt prospective participants to think through their personal values and what key consent disclosures might mean for their individual context.…”

“…We developed our model consent language, which refers to a hypothetical "Million American Study," based on best practice guidelines for biobanking [6][7][8]; information required by recently revised federal regulations (45 CFR 46.116); and the results of our own series of studies to simplify biobanking consent and improve comprehension [9][10][11][12][13][14], which over time involved more than 2100 members of the general public and nearly 80 professionals with biobank-related expertise in cognitive interviews, in-depth interviews, a randomized survey, and a formal Delphi process. Notably, we also incorporated key findings from in-depth interviews we conducted with a diverse group of 60 thought leaders on the benefits, risks, harms, and protections in precision medicine research [5,15,16], as well as extensive analysis of federal and state protections available for precision medicine research [17]. In constructing our language, we followed principles of plain-language writing, such as using common, lay words; writing in first person, active voice; limiting sentence length; addressing only one main idea per paragraph; using clear organization and formatting with descriptive headings; and ensuring adequate white space [18].…”

“…In addition, our thought leader interviewees typically described the risks of participation as inherently hard to quantify and value-laden-often remarking that "It depends on the particular participant's situation" or "It really depends on the person" [5]. Accordingly, we drew upon the results of these interviews as well as decision aid literature [19,20] to devise a brief set of questions (Table 1) to assist individuals in evaluating consent information in light of their own circumstances.…”

“…At the same time, rapid advances in large-scale genomic research, including the ability to collect and analyze multidimensional genomic, medical, lifestyle, and behavioral data, have expanded both the opportunities and the risks for participants, families, and communities [3,4]. These lead to value-laden issues surrounding research participation, i.e., factors that in some cases cannot be quantified but rather must be considered by individuals relative to their own personal circumstances [5].…”

Thought Leader Comparisons of Risks in Precision Medicine Research

“…They identified four broad categories of risk in a hypothetical large-scale precision medicine research endeavor: unintended access to identifying information, permitted but potentially unwanted use of information, risks based on the nature of genomic information, and risks arising from longitudinal study designs 2 -with attendant prospects for physical, dignitary, group, economic, psychological, and legal harms. 3 To understand more about the specific sources of these risks and harms, we also asked these thought lead-ers to identify which they perceived to be the riskiest aspect of the endeavor: genomic analyses of biospecimens, ongoing access to electronic health record (EHR) data, or streaming data from mobile devices. Additionally, we asked them to rate the overall likelihood and severity of harm to participants, given this combination of data.…”