Experts' Views on Children's Access to Community-Based Therapeutic and Education Services After Genomic Sequencing Results.

OBJECTIVE: To evaluate how community-based experts respond to families seeking therapeutic and educational support services after pediatric genomic sequencing for rare conditions. METHODS: We interviewed 15 experts in the provision of community-based services for children with intellectual differences, developmental differences, or both, as part of a large study examining the utility of exome sequencing. RESULTS: Interviewees highlighted the complexity of the overall referral and assessment system for therapeutic or educational needs, that genetic diagnoses are secondary to behavioral observations in respect to eligibility for the provision of services, and that social capital drives service acquisition. Although emphasizing that genetic results do not currently provide sufficient information for determining service eligibility, interviewees also highlighted their hopes that genetics would be increasingly relevant in the future. CONCLUSION: Genomic results do not usually provide information that directly impacts service provision. However, a positive genomic test result can strengthen evidence for behavioral diagnoses and the future trajectory of a child's condition and support needs. Interviewees' comments suggest a need to combine emerging genetic knowledge with existing forms of therapeutic and educational needs assessment, and for additional supports for families struggling to navigate social and therapeutic services.

The Parent PrU: A measure to assess personal utility of pediatric genomic results.

PURPOSE: We aimed to adapt and validate an existing patient-reported outcome measure, the personal-utility (PrU) scale, for use in the pediatric genomic context. METHODS: We adapted the adult version of the PrU and obtained feedback from 6 parents whose child had undergone sequencing. The resulting measure, the Parent PrU, was administered to parents of children in 4 pediatric cohorts of the Clinical Sequencing Evidence-Generating Research consortium after they received their children's genomic results. We investigated the measure's structural validity and internal consistency. RESULTS: We conducted a principal-axis factor analysis with oblimin rotation on data from 755 participants to determine structural validity. These analyses yielded a 3-factor solution, accounting for 76% of the variance in the 16 items. We used Cronbach's α to assess the internal consistency of each factor: (1) child benefits (α = .95), (2) affective parent benefits (α = .90), and (3) parent control (α = .94). CONCLUSION: Our evidence suggests that the Parent PrU scale has potential as a measure for assessing parent-reported personal utility of their children's genomic results. Additional research is needed to further validate the Parent PrU scale, including by comparing its findings with utility assessments reported by clinicians and children themselves.

Barriers and Facilitators of High-Efficiency Clinical Pathway Implementation in Community Hospitals.

BACKGROUND: An intervention that involved simultaneously implementing clinical pathways for multiple conditions was tested at a tertiary children's hospital and it improved care quality. We are conducting a randomized trial to evaluate this multicondition pathway intervention in community hospitals. Our objectives in this qualitative study were to prospectively (1) identify implementation barriers and (2) map barriers to facilitators using an established implementation science framework. METHODS: We recruited participants via site leaders from hospitals enrolled in the trial. We designed an interview guide using the Consolidated Framework for Implementation Research and conducted individual interviews. Analysis was done using constant comparative methods. Anticipated barriers were mapped to facilitators using the Capability, Opportunity, Motivation, Behavior Framework. RESULTS: Participants from 12 hospitals across the United States were interviewed (n = 21). Major themes regarding the multicondition pathway intervention included clinician perceptions, potential benefits, anticipated barriers/challenges, potential facilitators, and necessary resources. We mapped barriers to additional facilitators using the Capability, Opportunity, Motivation, Behavior framework. To address limited time/bandwidth of clinicians, we will provide Maintenance of Certification credits. To address new staff and trainee turnover, we will provide easily accessible educational videos/resources. To address difficulties in changing practice across other hospital units, we will encourage emergency department engagement. To address parental concerns with deimplementation, we will provide guidance on parent counseling. CONCLUSIONS: We identified several potential barriers and facilitators for implementation of a multicondition clinical pathway intervention in community hospitals. We also illustrate a prospective process for identifying implementation facilitators.

The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.

The reanalysis of genomic sequencing results has the potential to provide results that are of considerable medical and personal importance to recipients. Employing interviews with forty-seven predominantly medically underserved families and ethnographic observations we argue that there is pressing need to standardize the approach taken to reanalysis. Our findings highlight that study participants were unclear as to the likelihood of reanalysis happening, the process of initiating reanalysis, and whether they would receive revised results. Their reflections mirror the lack a specific focus upon reanalysis within consent and results sessions as observed in clinical settings. Mechanisms need to be put into place that standardize the approach to reanalysis in research and in clinical contexts. This would enable clinicians and genetic counsellors to communicate clearly with research participants with respect to potential for reanalysis of results and the process of reanalysis. We argue that that the role of reanalysis is too important to be referred to in an ad-hoc manner. Furthermore, the ad-hoc nature of the current process may increase health inequities given the likelihood that only those families who have the means to press for reanalysis are likely to receive it.

Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis.

Objective: To provide qualitative empirical data on parental expectations of diagnostic prenatal genomic sequencing and the value of the results to families. Methods: We interviewed 15 families-mothers and/or fathers-who had had prenatal genomic sequencing about their expectations and their respective evaluations of the benefits of genomic sequencing. Results: Families' hopes for genetic sequencing clustered around three themes: hoping to identify the cause of the fetal anomaly in a terminated pregnancy; hopes for guidance as to the likely outcome of current pregnancy; and hopes for information to support future family planning. In addition, hopes were discussed in terms of the potential for results to be beneficial in acquiring greater knowledge, while at the same time recognizing that new knowledge may raise more questions. Assessment of the value of sequencing largely mirrored these expectations when positive results seen. Negative results can also be seen as valuable in ruling out a genetic cause and in providing certainty that families had done everything that they could to know about the cause of fetal demise. Conclusion: It would appear that with guidance from genetic counsellors, families were largely able to navigate the many uncertainties of prenatal genomic sequencing and thus see themselves as benefitting from sequencing. However, support structures are essential to guide them through their expectations and interpretations of results to minimize possible harms. Engaging in the process of genomic sequencing was seen as beneficial in of itself to families who would otherwise be left without any options to seek diagnostic answers.

The Challenge of Recruiting Diverse Populations into Health Research: An embedded social science perspective.

Addressing health disparities has become a central remit for conducting health research. In the following paper, we explore the conceptual and methodological challenges posed by the call to recruit medically underserved populations. This exploration of challenges is undertaken from the perspective of social science researchers embedded in a large within a clinical genomics research study. We suggest that these challenges are found in respect to the development of recruiting strategies, analysis of the data in respect to understanding and interpreting the experiences of being medically underserved, and in comparing the experiences of being medically underserved compared to not being underserved. By way of conclusion, it is argued that there is important role for social scientists with large health research studies which, if achieved successfully, can benefit study teams and society as a whole.

Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium.

INTRODUCTION: Ensuring equitable access to health care is a widely agreed-upon goal in medicine, yet access to care is a multidimensional concept that is difficult to measure. Although frameworks exist to evaluate access to care generally, the concept of "access to genomic medicine" is largely unexplored and a clear framework for studying and addressing major dimensions is lacking. METHODS: Comprised of seven clinical genomic research projects, the Clinical Sequencing Evidence-Generating Research consortium (CSER) presented opportunities to examine access to genomic medicine across diverse contexts. CSER emphasized engaging historically underrepresented and/or underserved populations. We used descriptive analysis of CSER participant survey data and qualitative case studies to explore anticipated and encountered access barriers and interventions to address them. RESULTS: CSER's enrolled population was largely lower income and racially and ethnically diverse, with many Spanish-preferring individuals. In surveys, less than a fifth (18.7%) of participants reported experiencing barriers to care. However, CSER project case studies revealed a more nuanced picture that highlighted the blurred boundary between access to genomic research and clinical care. Drawing on insights from CSER, we build on an existing framework to characterize the concept and dimensions of access to genomic medicine along with associated measures and improvement strategies. CONCLUSIONS: Our findings support adopting a broad conceptualization of access to care encompassing multiple dimensions, using mixed methods to study access issues, and investing in innovative improvement strategies. This conceptualization may inform clinical translation of other cutting-edge technologies and contribute to the promotion of equitable, effective, and efficient access to genomic medicine.

Condemning and condoning: Elite amateur cyclists' perspectives on drug use and professional cycling.

BACKGROUND: Sports doping is condemned by sports authorities and by society at large. Cycling has a particularly infamous relationship with sports doping, especially at professional level. Using interviews with elite amateur cyclists, this paper examines how cyclists close to, but not within, the ranks of professional cycling perceive the relationship between cycling and doping. METHODS: Eleven elite amateur cyclists from Melbourne were interviewed with regards to their experiences as cyclists, use of training technologies, supplements and other substances, and their attitudes to doping in sport, especially cycling. RESULTS: Interviewees described how their training schedule is extremely demanding and frequently necessitates the use of substances such as caffeine, anti-inflammatory medications, and energy boosters. Some distanced themselves and their use of supplements and substances from doping and condemned such practices as unethical and objectionable. Others appeared to empathise with professional cyclists' use of doping substances given that they rely on cycling for their income and made comparisons between doping and their own licit (not WADA-prohibited) substance use. CONCLUSIONS: The perception of professional cycling as a sport intimately tied to drug taking places those nearest to professional cycling into a practical and moral predicament. Our interviews suggest that while elite amateur cyclists do not appear supportive of drug deregulation in sport they are not necessarily fully supportive of current anti-doping policy.

Should nutritional supplements and sports drinks companies sponsor sport? A short review of the ethical concerns.

This paper proposes that the sponsorship of sport by nutritional supplements and sport drinks companies should be re-examined in the light of ethical concerns about the closeness of this relationship. A short overview is provided of the sponsorship of sport, arguing that ethical concerns about its appropriateness remain despite the imposition of severe restrictions on tobacco sponsorship. Further, the paper examines the main concerns about supplement use and sports drinks with respect to efficacy, health and the risks of doping. Particular consideration is given to the health implications of these concerns. It is suggested that they, of themselves, do not warrant the restriction of sponsorship by companies producing supplements and sports drinks. Nevertheless, it is argued that sports sponsorship does warrant further ethical examination--above and beyond that afforded to other sponsors of sport--as sport sponsorship is integral to the perceived need for such products. In conclusion, it is argued that sport may have found itself lending unwarranted credibility to products which would otherwise not necessarily be seen as beneficial for participation in sports and exercise or as inherently healthy products.

Examining reports and policies on cognitive enhancement: approaches, rationale, and recommendations.

The phenomenon of cognitive enhancement is attracting attention in bioethics literature and beyond, in public policy. In response, three bodies--the British Medical Association (BMA); the Commission de l'éthique de la Science et de la technologie (CEST) du Québec; the American Academy of Neurology (AAN)--have produced reports and guidance on this topic. To gain insights into different public policy approaches, rationales, and recommendations on the topic, we analyzed these reports in depth. We found convergence on the definition (with the exception of the CEST) of cognitive enhancement. However, we noted a lack of critical reflection with respect to the underlying rationale for developing these reports, i.e., that cognitive enhancement practices are rampant and represent major social changes. As it currently stands, cognitive enhancement is constituted in a way that challenges the creation of coherent and effective policy recommendations. However, policy makers should not simply wait for definitional consensus and hope that on balance the benefits turn out to be greater than the risks. Some components of cognitive enhancement could be reduced down to clearly identified policy targets to be further examined. Then, if appropriate, policy should be created that is, amongst other criteria, beneficial to the majority of the population.

Epidemiology and bioethics: a plea for reconnecting with the public.

The author takes the position that both epidemiology and bioethics, as practiced within academic establishments, have largely although not entirely abstracted the public context of health and well-being from their respective disciplines. It is argued that by and large both disciplines have been highly successful at what they do. However, this success can in part be attributed to each limiting its ability to look beyond its respective academic niche and thus embrace challenges which are socially challenging, politically charged, and academically messy. This narrow focus has become self-serving and ultimately detracts from fundamental remits of both disciplines in protecting the public from harm. Furthermore, it may re-enforce the inequalities of research into health overall, whereby the greatest concentration of effort remains firmly focused upon those who already have the most. Currently marginalized approaches to each of these disciplines - such as social epidemiology, global bioethics, and critical bioethics - provide us with platforms that challenge mainstream academic epidemiologists and bioethicists to seek out and reconnect their expertise with questions that are more relevant to real-world situations.

The use of methylphenidate among students: the future of enhancement?

During the past few years considerable debate has arisen within academic journals with respect to the use of smart drugs or cognitive enhancement pharmaceuticals. The following paper seeks to examine the foundations of this cognitive enhancement debate using the example of methylphenidate use among college students. The argument taken is that much of the enhancement debate rests upon inflated assumptions about the ability of such drugs to enhance and over-estimations of either the size of the current market for such drugs or the rise in popularity as drugs for enhancing cognitive abilities. This article provides an overview of the empirical evidence that methylphenidate has the ability to significantly improve cognitive abilities in healthy individuals, and examines whether the presumed uptake of the drug is either as socially significant as implied or growing to the extent that it requires urgent regulatory attention. In addition, it reviews the evidence of side-effects for the use of methylphenidate which may be an influential factor in whether an individual decides to use such drugs. The primary conclusions are that neither drug efficacy, nor the benefit-to-risk balance, nor indicators of current or growing demand provide sufficient evidence that methylphenidate is a suitable example of a cognitive enhancer with mass appeal. In light of these empirically based conclusions, the article discusses why methylphenidate might have become seen as a smart drug or cognitive enhancer.

Anthropological insights into the use of race/ethnicity to explore genetic contributions to disparities in health.

Anthropological insights into the use of race/ethnicity to explore genetic contributions to disparities in health were developed using in-depth qualitative interviews with editorial staff from nineteen genetics journals, focusing on the methodological and conceptual mechanisms required to make race/ethnicity a genetic variable. As such, these analyses explore how and why race/ethnicity comes to be used in the context of genetic research, set against the background of continuing critiques from anthropology and related human sciences that focus on the social construction, structural correlates and limited genetic validity of racial/ethnic categories. The analyses demonstrate how these critiques have failed to engage geneticists, and how geneticists use a range of essentially cultural devices to protect and separate their use of race/ethnicity as a genetic construct from its use as a societal and social science resource. Given its multidisciplinary, biosocial nature and the cultural gaze of its ethnographic methodologies, anthropology is well placed to explore the cultural separation of science and society, and of natural and social science disciplines. Anthropological insights into the use of race/ethnicity to explore disparities in health suggest that moving beyond genetic explanations of innate difference might benefit from a more even-handed critique of how both the natural and social sciences tend to essentialize selective elements of race/ethnicity. Drawing on the example of HIV/AIDS, this paper demonstrates how public health has been undermined by the use of race/ethnicity as an analytical variable, both as a cipher for innate genetic differences in susceptibility and response to treatment, and in its use to identify 'core groups' at greater risk of becoming infected and infecting others. Clearly, a tendency for biological reductionism can place many biomedical issues beyond the scope of public health interventions, while socio-cultural essentialization has tended to stigmatize 'unhealthy behaviours' and the communities where these are more prevalent.