“Let’s pull these technologies out of the ivory tower”: The politics, ethos, and ironies of participant-driven genomic research

This paper investigates how groups of ‘citizen scientists’ in non-traditional settings and primarily online networks claim to be challenging conventional genomic research processes and norms. Although these groups are highly diverse, they all distinguish their efforts from traditional university- or industry-based genomic research as being ‘participant-driven’ in one way or another. Participant-driven genomic research (PDGR) groups often work from ‘labs’ that consist of servers and computing devices as much as wet lab apparatus, relying on information-processing software for data-driven, discovery-based analysis rather than hypothesis-driven experimentation. We interviewed individuals from a variety of efforts across the expanding ecosystem of PDGR, including academic groups, start-ups, activists, hobbyists, and hackers, in order to compare and contrast how they relate their stated objectives, practices, and political and moral stances to institutions of expert scientific knowledge production. Results reveal that these groups, despite their diversity, share commitments to promoting alternative modes of housing, conducting, and funding genomic research and, ultimately, sharing knowledge. In doing so, PDGR discourses challenge existing approaches to research governance as well, especially the regulation, ethics, and oversight of human genomic information management. Interestingly, the reaction of the traditional genomics research community to this revolutionary challenge has not been negative: in fact, the community seems to be embracing the ethos espoused by PDGR, at the highest levels of science policy. As conventional genomic research assimilates the ethos of PDGR, the movement’s ‘democratizing’ views on research governance are likely to become normalized as well, creating new tensions for science policy and research ethics

Big data, open science and the brain: lessons learned from genomics

The BRAIN Initiative aims to break new ground in the scale and speed of data collection in neuroscience, requiring tools to handle data in the magnitude of yottabytes (1024). The scale, investment and organization of it are being compared to the Human Genome Project (HGP), which has exemplified “big science” for biology. In line with the trend towards Big Data in genomic research, the promise of the BRAIN Initiative, as well as the European Human Brain Project, rests on the possibility to amass vast quantities of data to model the complex interactions between the brain and behavior and inform the diagnosis and prevention of neurological disorders and psychiatric disease. Advocates of this “data driven” paradigm in neuroscience argue that harnessing the large quantities of data generated across laboratories worldwide has numerous methodological, ethical and economic advantages, but it requires the neuroscience community to adopt a culture of data sharing and open access to benefit from them. In this article, we examine the rationale for data sharing among advocates and briefly exemplify these in terms of new “open neuroscience” projects. Then, drawing on the frequently invoked model of data sharing in genomics, we go on to demonstrate the complexities of data sharing, shedding light on the sociological and ethical challenges within the realms of institutions, researchers and participants, namely dilemmas around public/private interests in data, (lack of) motivation to share in the academic community, and potential loss of participant anonymity. Our paper serves to highlight some foreseeable tensions around data sharing relevant to the emergent “open neuroscience” movement

Integrating genomics into clinical oncology: Ethical and social challenges from proponents of personalized medicine

The use of molecular tools to individualize health care, predict appropriate therapies and prevent adverse health outcomes has gained significant traction in the field of oncology, under the banner of “personalized medicine.” Enthusiasm for personalized medicine in oncology has been fueled by success stories of targeted treatments for a variety of cancers based on their molecular profiles. Though these are clear indications of optimism for personalized medicine, little is known about the ethical and social implications of personalized approaches in clinical oncology. The objective of this study is to assess how a range of stakeholders engaged in promoting, monitoring, and providing personalized medicine understand the challenges of integrating genomic testing and targeted therapies into clinical oncology. The study involved the analysis of in-depth interviews with 117 basic scientists, clinician-researchers, clinicians in private practice, health professional educators, representatives of funding agencies, medical journal editors, entrepreneurs, and insurers whose experiences and perspectives on personalized medicine span a wide variety of institutional and professional settings. Despite considerable enthusiasm for this shift, promoters, monitors and providers of personalized medicine identified four domains which will still provoke heightened ethical and social concerns: (1) informed consent for cancer genomic testing, (2) privacy, confidentiality, and disclosure of genomic test results, (3) access to genomic testing and targeted therapies in oncology, and (4) the costs of scaling up pharmacogenomic testing and targeted cancer therapies. These specific concerns are not unique to oncology, or even genomics. However, those most invested in the success of personalized medicine view oncologists’ responses to these challenges as precedent-setting because oncology is farther along the path of clinical integration of genomic technologies than other fields of medicine. This study illustrates that the rapid emergence of personalized medicine approaches in clinical oncology provides a crucial lens for identifying and managing potential frictions and pitfalls that emerge as health care paradigms shift in these directions

After the revolution? Ethical and social challenges in ‘personalized genomic medicine’

Personalized genomic medicine (PGM) is a goal that currently unites a wide array of biomedical initiatives, and is promoted as a ‘new paradigm for healthcare’ by its champions. Its promissory virtues include individualized diagnosis and risk prediction, more effective prevention and health promotion, and patient empowerment. Beyond overcoming scientific and technological hurdles to realizing PGM, proponents may interpret and rank these promises differently, which carries ethical and social implications for the realization of PGM as an approach to healthcare. We examine competing visions of PGM’s virtues and the directions in which they could take the field, in order to anticipate policy choices that may lie ahead for researchers, healthcare providers and the public

Critical review of behaviour change techniques applied in intervention studies to improve cooking skills and food skills among adults

BACKGROUND: Cooking and food skills interventions have grown in popularity; however, there is a lack of transparency as to how these interventions were designed, highlighting a need to identify and understand the mechanisms of behavior change so that effective components may be introduced in future work. This study critiques cooking and food skills interventions in relation to their design, behavior change techniques (BCTs), theoretical underpinnings, and outcomes. METHODS: A 40-item CALO-RE taxonomy was used to examine the components of 59 cooking and food skills interventions identified by two systematic reviews. Studies were coded by three independent coders. RESULTS: The three most frequently occurring BCTs identified were #1 Provide information on consequences of behavior in general; #21 Provide instruction on how to perform the behavior; and #26 Prompt Practice. Fifty-six interventions reported positive short-term outcomes. Only 14 interventions reported long-term outcomes containing BCTs relating to information provision. CONCLUSION: This study reviewed cooking and food skills interventions highlighting the most commonly used BCTs, and those associated with long-term positive outcomes for cooking skills and diet. This study indicates the potential for using the BCT CALO-RE taxonomy to inform the design, planning, delivery and evaluation of future interventions

Citizen science or scientific citizenship? Disentangling the uses of public engagement rhetoric in national research initiatives

Background: The language of “participant-driven research,” “crowdsourcing” and “citizen science” is increasingly being used to encourage the public to become involved in research ventures as both subjects and scientists. Originally, these labels were invoked by volunteer research efforts propelled by amateurs outside of traditional research institutions and aimed at appealing to those looking for more “democratic,” “patient-centric,” or “lay” alternatives to the professional science establishment. As mainstream translational biomedical research requires increasingly larger participant pools, however, corporate, academic and governmental research programs are embracing this populist rhetoric to encourage wider public participation. Discussion: We examine the ethical and social implications of this recruitment strategy. We begin by surveying examples of “citizen science” outside of biomedicine, as paradigmatic of the aspirations this democratizing rhetoric was originally meant to embody. Next, we discuss the ways these aspirations become articulated in the biomedical context, with a view to drawing out the multiple and potentially conflicting meanings of “public engagement” when citizens are also the subjects of the science. We then illustrate two uses of public engagement rhetoric to gain public support for national biomedical research efforts: its post-hoc use in the “care.data” project of the National Health Service in England, and its proactive uses in the “Precision Medicine Initiative” of the United States White House. These examples will serve as the basis for a normative analysis, discussing the potential ethical and social ramifications of this rhetoric. Summary: We pay particular attention to the implications of government strategies that cultivate the idea that members of the public have a civic duty to participate in government-sponsored research initiatives. We argue that such initiatives should draw from policy frameworks that support normative analysis of the role of citizenry. And, we conclude it is imperative to make visible and clear the full spectrum of meanings of “citizen science,” the contexts in which it is used, and its demands with respect to participation, engagement, and governance

Differential Modulation of Keratin Expression by Sulforaphane Occurs via Nrf2-dependent and -independent Pathways in Skin Epithelia

In this study the authors address the mechanistic basis of the therapeutic benefit afforded by treatment with the naturally occurring small molecule sulforaphane in the context of a keratin-based skin blistering disease, epidermolysis bullosa simplex

Development and Psychometric Validation of the Pandemic-Related Traumatic Stress Scale for Children and Adults

To assess the public health impact of the COVID-19 pandemic on mental health, investigators from the National Institutes of Health Environmental influences on Child Health Outcomes (ECHO) research program developed the Pandemic-Related Traumatic Stress Scale (PTSS). Based on the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) acute stress disorder symptom criteria, the PTSS is designed for adolescent (13–21 years) and adult self-report and caregiver-report on 3–12-year-olds. To evaluate psychometric properties, we used PTSS data collected between April 2020 and August 2021 from non-pregnant adult caregivers (n = 11,483), pregnant/postpartum individuals (n = 1,656), adolescents (n = 1,795), and caregivers reporting on 3–12-year-olds (n = 2,896). We used Mokken scale analysis to examine unidimensionality and reliability, Pearson correlations to evaluate relationships with other relevant variables, and analyses of variance to identify regional, age, and sex differences. Mokken analysis resulted in a moderately strong, unidimensional scale that retained nine of the original 10 items. We detected small to moderate positive associations with depression, anxiety, and general stress, and negative associations with life satisfaction. Adult caregivers had the highest PTSS scores, followed by adolescents, pregnant/postpartum individuals, and children. Caregivers of younger children, females, and older youth had higher PTSS scores compared to caregivers of older children, males, and younger youth, respectively