Susan E. Kelly

The association of attention deficit hyperactivity disorder with socioeconomic disadvantage: alternative explanations and evidence

Background Studies throughout Northern Europe, the United States and Australia have found an association between childhood attention deficit hyperactivity disorder (ADHD) and family socioeconomic disadvantage. We report further evidence for the association and review potential causal pathways that might explain the link. Method Secondary analysis of a UK birth cohort (the Millennium Cohort Study, N = 19,519) was used to model the association of ADHD with socioeconomic disadvantage and assess evidence for several potential explanatory pathways. The case definition of ADHD was a parent-report of whether ADHD had been identified by a medical doctor or health professional when children were 7 years old. Results ADHD was associated with a range of indicators of social and economic disadvantage including poverty, housing tenure, maternal education, income, lone parenthood and younger motherhood. There was no evidence to suggest childhood ADHD was a causal factor of socioeconomic disadvantage: income did not decrease for parents of children with ADHD compared to controls over the 7-year study period. No clinical bias towards labelling ADHD in low SES groups was detected. There was evidence to suggest that parent attachment/family conflict mediated the relationship between ADHD and SES. Conclusion Although genetic and neurological determinants may be the primary predictors of difficulties with activity level and attention, aetiology appears to be influenced by socioeconomic situation.

Non-Invasive Prenatal Genetic Testing: A Study of Public Attitudes

Background/Objectives: Non-invasive prenatal genetic diagnostic (NIPD) tests are being developed using cell-free fetal DNA in the maternal circulation. NIPD tests avoid or reduce the need for invasive diagnostic procedures for conditions like Down syndrome. Discussion of ethical and social implications of these techniques is increasing. We report findings from a study of public attitudes relevant to the introduction of NIPD. A key aim was to examine the range of attitudes relevant to NIPD within a diverse sample. Methods: Qualitative analysis of written free text ‘first responses’ to a written neutral description of NIPD as part of a Q-methodology study conducted with a purposive sample of the UK population (n = 71). Results: The majority (63%) of respondents described their first response as positive. However, respondents displayed ambivalence, expressing positive views of individual/medical rationale for NIPD and unease concerning public health rationale and societal implications. Unease related to eugenic reasoning underlying existing prenatal testing, ‘too much control’ in reproduction, commercial provision, information and support requirements for expanded testing, and limiting the use of testing. Conclusions: These findings suggest that regulating and monitoring commercial provision of NIPD services, and monitoring introduction and clinical use, are a public preference.

Counseling customers: Emerging roles for genetic counselors in the direct-to-consumer genetic testing market

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics’ concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.

Public viewpoints on new non-invasive prenatal genetic tests:

Prenatal screening programmes have been critiqued for their routine implementation according to clinical rationale without public debate. A new approach, non-invasive prenatal diagnosis (NIPD), promises diagnosis of fetal genetic disorders from a sample of maternal blood without the miscarriage risk of current invasive prenatal tests (e.g. amniocentesis). Little research has investigated the attitudes of wider publics to NIPD. This study used Q-methodology, which combines factor analysis with qualitative comments, to identify four distinct “viewpoints” amongst 71 UK men and women: 1. NIPD as a new tool in the ongoing societal discrimination against the disabled; 2. NIPD as a positive clinical application offering peace of mind in pregnancy; 3. NIPD as a medical option justified for severe disorders only; and 4. NIPD as a valid expansion of personal choice. Concerns included the “trivialisation of testing” and the implications of commercial/direct-to-consumer tests. Q-methodology has considerable potential to identify viewpoints and frame public debate about new technologies.

Evaluating the consent preferences of UK research volunteers for genetic and clinical studies.

Objectives To establish the views of research volunteers on the consent process; to explore their views on the consent process in different research scenarios; to inform debate on emerging models of consent for participation in research. Design, Setting and Participants 2,308 adult volunteers from the TwinsUK Registry (www.twinsuk.ac.uk) completed an online survey about their views on the consent process for use of their DNA and medical information in research. Their views on the re-consenting process in different scenarios were assessed. Results The majority of volunteers preferred to be informed of the identity of the main researcher of a study in which they are participating, which is contrary to current practice. Over 80% were willing to complete the consent process online instead of face to face. On the whole, respondents did not view their DNA differently from their medical information with regard to the consent process. Research participants were more willing to give broad consent to cover future research if their DNA was to be used by the original researcher than by another researcher, even if the disease under investigation varied, in contrast to the traditional ‘gold standard’ whereby specific consent is required for all new research projects. Discussion In some scenarios, research participants reported that they would be comfortable with not signing a new consent form for future research uses of their data and DNA, and are comfortable with secure, online consent processes rather than traditional face-to-face consent processes. Our findings indicate that the perceived relationship between research participants and researchers plays an important role in shaping preferences regarding the consent process and suggest that this relationship is not captured by traditional consent processes. We argue that the development of new formats of consent should be informed by empirical research on volunteers’ perceptions and preferences regarding the consent process.

THE GIFT OF SPIT (AND THE OBLIGATION TO RETURN IT): How consumers of online genetic testing services participate in research

People can now send a sample of their saliva to an internet-based company in order to discover genetic information about themselves. Entering this ‘direct-to-consumer’ genetic testing (DTC GT) marketplace can result in enticement to engage in various forms of ‘participatory’ practices, such as taking part in genetic research. In this article, we analyse the research activities of one of the largest and best-known DTC GT companies, 23andMe. 23andMe research is based on what they term ‘participant-led’ research methodologies, which utilize a combination of consumers’ genetic information and self-reported data in the form of completed online surveys. Our analysis shows that 23andMe presents research participation as a form of gift exchange, implying some kind of social bond. Social ties between the consumer-participant and 23andMe are integral to the companys ‘novel’ research agenda which relies on the ongoing aggregation of data from a loyal re-contactable cohort. We argue that the notion of gift exchange is used to draw attention away from the free, clinical labour which drives the profitability of 23andMe. We offer an account of a particular form of online research participation which differs from other kinds of participatory medical research. As medical research becomes increasingly driven by large data sets and internet-based research methods, we offer a timely analysis of emerging participatory practices.

Illness Online: Self-reported Data and Questions of Trust in Medical and Social Research

Self-reported data are regarded by medical researchers as invalid and less reliable than data produced by experts in clinical settings, yet individuals can increasingly contribute personal information to medical research through a variety of online platforms. In this article we examine this ‘participatory turn’ in healthcare research, which claims to challenge conventional delineations of what is valid and reliable for medical practice, by using aggregated self-reported experiences from patients and ‘pre-patients’ via the internet. We focus on 23andMe, a genetic testing company that collects genetic material and self-reported information about disease from its customers. Integral to this research method are relations of trust embedded in the information exchange: trust in customers’ data; trust between researchers/company and research subjects; trust in genetics; trust in the machine. We examine the performative dimension of these trust relations, drawing on Shapin and Schaffer’s (1985) discussion of how material, literary and social technologies are used in research in order to establish trust. Our scepticism of the company’s motives for building trust with the self-reporting consumer forces us to consider our own motives. How does the use of customer data for research purposes by 23andMe differ from the research practices of social scientists, especially those who also study digital traces? By interrogating the use of self-reported data in the genetic testing context, we examine our ethical responsibilities in studying the digital selves of others using internet methods. How researchers trust data, how participants trust researchers, and how technologies are trusted are all important considerations in studying the social life of digital data.

A qualitative analysis of lay beliefs about the aetiology and prevalence of autistic spectrum disorders.

INTRODUCTION There has been a dramatic increase in the prevalence of autistic spectrum disorders (ASD) in the last 20 years. The reasons for this are disputed. The consensus among epidemiologists and other experts is that greater case load is due to changes in diagnostic practice rather than reflecting changing aetiological factors leading to a true increase in incidence. We set out to examine lay views concerning the aetiology and prevalence of ASD and whether they conflict with or support this consensus position. METHODS Over 100 unsolicited communications (letters e-mail and several telephone calls) were received by a UK epidemiological study of ASD. We carried out a qualitative analysis of all correspondence in order to examine spontaneously expressed lay beliefs about the prevalence and aetiology of ASD. RESULTS The majority of correspondents suggested theories about environmental causes of ASD. This study demonstrates the strength of lay belief that the true incidence of autism is rising, and this is due to risks from modern technologies and changing lifestyles. CONCLUSION This study based on unsolicited data highlights the contrast between lay explanations of increasing prevalence and the consensus opinion of medical experts. It also demonstrates how many people in direct contact with ASD have important information to share.

Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom.

Purpose:To ascertain whether and how recontacting occurs in the United Kingdom.Method:A Web-based survey was administered online between October 2014 and July 2015. A link to the survey was circulated via an e-mail invitation to the clinical leads of the United Kingdom’s 23 clinical genetics services, with follow-up with senior clinical genetics staff.Results:The majority of UK services reported that they recontact patients and their family members. However, recontacting generally occurs in an ad hoc fashion when an unplanned event causes clinicians to review a file (a “trigger”). There are no standardized recontacting practices in the United Kingdom. More than half of the services were unsure whether formalized recontacting systems should be implemented. Some suggested greater patient involvement in the process of recontacting.Conclusion:This research suggests that a thorough evaluation of the efficacy and sustainability of potential recontacting systems within the National Health Service would be necessary before deciding whether and how to implement such a service or to create guidelines on best-practice models.Genet Med 18 9, 876–881.

Autobiologies on YouTube: narratives of direct-to-consumer genetic testing

Despite a growing personal genomics market, little is known about how people engage with the possibilities offered by direct-to-consumer (DTC) genetic testing. In order to help address this gap, this study deploys narrative analysis of YouTube videos posted by individuals who have purchased DTC genetic testing for disease. Genetic testing is said to be contributing to new states of illness, where individuals may become “patients-in-waiting.” In the videos analyzed, we found a new form of storytelling about this ambiguous state of illness, which we refer to as autobiology. Autobiology – the study of, and story about, ones own biology – concerns narratives of sense-making through forms of biological practice, as well as wayfaring narratives which interweave genetic markers and family histories of disease. These autobiologies – part of a broader shift toward public stories about genetics and other healthcare technologies – exhibit playfulness, as well as being bound with consumerist practices.