Darren Shickle

Race and ancestry in biomedical research: exploring the challenges.

The use of race in biomedical research has, for decades, been a source of social controversy. However, recent events, such as the adoption of racially targeted pharmaceuticals, have raised the profile of the race issue. In addition, we are entering an era in which genomic research is increasingly focused on the nature and extent of human genetic variation, often examined by population, which leads to heightened potential for misunderstandings or misuse of terms concerning genetic variation and race. Here, we draw together the perspectives of participants in a recent interdisciplinary workshop on ancestry and health in medicine in order to explore the use of race in research issue from the vantage point of a variety of disciplines. We review the nature of the race controversy in the context of biomedical research and highlight several challenges to policy action, including restrictions resulting from commercial or regulatory considerations, the difficulty in presenting precise terminology in the media, and drifting or ambiguous definitions of key terms.

Concerns over confidentiality may deter adolescents from consulting their doctors. A qualitative exploration

Objectives: Young people who are concerned that consultations may not remain confidential are reluctant to consult their doctors, especially about sensitive issues. This study sought to identify issues and concerns of adolescents, and their parents, in relation to confidentiality and teenagers’ personal health information. Setting: Recruitment was conducted in paediatric dermatology and general surgery outpatient clinics, and on general surgery paediatric wards. Interviews were conducted in subjects’ own homes. Methods: Semistructured interviews were used for this exploratory qualitative study. Interviews were carried out with 11 young women and nine young men aged 14–17. Parents of 18 of the young people were interviewed separately. Transcripts of tape recorded interviews provided the basis for a framework analysis. Results: Young women were more concerned than young men, and older teenagers more concerned than younger teenagers, about people other than their general practitioner (GP) having access to their health information. Young people with little experience of the healthcare system were less happy than those with greater knowledge of the National Health Service (NHS) for non-medical staff to access their health information. As they grow older, adolescents become increasingly concerned that their health information should remain confidential. Conclusion: Young people’s willingness to be open in consultations could be enhanced by doctors taking time to explain to them that their discussion is completely confidential. Alternatively, if for any reason confidentiality cannot be assured, doctors should explain why.

Key challenges in the development and implementation of telehealth projects

A literature review was carried out to identify the key challenges in the implementation of telehealth. This was followed by a survey of organisations in England involved in telehealth projects in order to understand the challenges they faced. Ten of the 13 health or local authority organisations surveyed had telehealth projects and three were at the planning stage. The analysis revealed seven key challenges facing implementers of telehealth in England. Based on the findings from the literature review and the survey, a model was constructed and a checklist drawn up. The model contained the following elements: identifying issues, needs and partners; producing a strategy; securing funding; implementing changes; and monitoring and evaluating a telehealth project. The checklist was validated by using key informants from the organisations originally surveyed. The checklist may be useful to guide telehealth development and implementation in the future.

Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team

Population carrier screening for cystic fibrosis (CF) was offered to all patients aged 16–45 in one general practice in South Wales, excluding those in couples with a current pregnancy. Out of 1553 patients in this group, 481 subjects were tested, giving an overall uptake rate of more than 30%. The rate of uptake varied with the mode of invitation. Twenty‐six carriers were identified, giving a prevalence of identified carriers of 5.4% (1 in 18.5) for those with no family history of CF. A further 18 carriers were identified by cascade testing of these 26. We describe the practical difficulties encountered in setting up this programme in primary care in South Wales. Questionnaires were administered or distributed to all subjects before and after testing. The response rate for the pre‐test questionnaire was 95%, and 40–50% for the post‐test questionnaires. These showed that, at 3 months post‐test, 1 in 4 screen‐negative subjects did not appreciate that they had a residual risk of being a carrier. At the same time, 15% of this group thought that there was a 1 in 4 chance of a child being affected if one parent was screen‐positive (carried an identified mutation) and the other was screen‐negative, and 40% thought there was no risk. Anxiety in relation to testing did not appear to be a major problem, although individual patterns of response to carrier status varied widely and more sensitive indicators of psychosocial impact of genetic tests are required. A pilot study of couple screening showed that this approach is unlikely to be useful in primary care, although we did not assess couple testing during pregnancy. For any programme of CF carrier screening to be established in primary care, it will be necessary to involve the primary care team from the earliest planning stage, so that the opportunity costs, training needs and other costs of the programme can be fully resourced.

The ethics of genetic screening

Contributors. Preface. The Wilson and Jungner Principles of Screening and Genetic Testing D. Shickle. Genetic screening, information and counselling in Austria G. Hauser.The Belgian perspective on genetic screening K. Dierickx. Thalassemia prevention in Cyprus. Past, present and future P. Ioannou. Some developments in genetic screening in Finland V. Launis. Genetic screening: Ethical debates and regulatory systems in France A. Boue. Screening in Germany: Carrier screening, pre-natal care and other screening projects T. Schroeder-Kurth. Population screening in Greece for prevention of genetic diseases C. Metaxotou, A. Mavrou. Ethics and genetic screening in the Republic of Ireland D. Dooley. Genetic screening in the Netherlands. The state of the debate R. Hoedemaekers. Genetic screening and genetic services in Slovakia V. Ferak. Historical and social background. Introduction H. ten Have. From eugenics to genetic screening. Historical problems of human genetic applications H.-P. Kroner. Genetics in Germany. History and hysteria U. Wiesing. A sociological perspective on genetic screening M. Levitt. Moral and philosophical issues. Introduction R.F. Chadwick, U. Wiesing. Genetic information and care I. Porn. Genetic screening, genetic testing and privacy J. Sandor. Reconciling liberty and the common good? Genetic screening in the Republic of Ireland D. Dooley. Genetic screening and testing. A moral map R. Hoedemaekers. The genetic testing of children A. Clarke. Index.

Interpretations of informed choice in antenatal screening: A cross-cultural, Q-methodology study

Informed choice is internationally recognised and accepted as an important aspect of ethical healthcare. In the U.K., NHS antenatal screening policies state that their primary aim is to facilitate reproductive informed choices. These policies, implemented within a multiethnic population, are largely guided by the ethical principle of autonomy. This study was carried out in 2009 in the U.K. and used Q-methodology to explore diversity in the value attached to autonomous informed choice in antenatal screening for genetic disorders and similarities and differences in this value in women from different ethnic origins. Ninety-eight participants of African, British White, Caribbean, Chinese and Pakistani origin completed a 41-statement Q-sort in English, French, Mandarin or Urdu. Q-Factor analysis produced five statistically independent viewpoints of the value of informed choice: choice as an individual right; choice informed by religious values; choice as a shared responsibility; choice advised by health professionals; and choice within the family context. The findings show that women hold a variety of views on the nature of informed choice, and that, contradictory to policies of autonomous informed choice, many women seek and value the advice of health professionals. The findings have implications for the role of health professionals in facilitating informed choice, quality of care and equity of access.

Inter- and Intra-Biobank Networks: Classification of Biobanks

Background: Many biobanks have struggled to deliver on the high expectations and claims made for them because of insufficient samples, inadequate infrastructure, cost of establishing and maintaining a large enough resource over the long term, and satisfying legal, ethics and governance requirements. Increasingly, networks have formed to help with the collection, processing, storage, advertising, and distribution of samples. However, there are also challenges to establishing and maintaining biobank networks. Aim: To classify biobanks in order to better understand the problems faced by biobank networking. Methods: Interviews were conducted with principal investigators and/or managers responsible for 33 biobanks in 9 countries. Results: Biobanks were classified into the following categories: ‘storage’, ‘bring-and-share’, ‘catalogue’, ‘partnership’, ‘contribution’ and ‘expertise’. Conclusion: It was possible to allocate all of the biobanks visited to one of the network categories although some fitted better than others. Thus, the classification may not be mutually exclusive nor encompass all types of biobanks. Many of the governance and operational problems associated with the biobanks visited were due to networking functions: either intra- or inter-biobank networks. Thus, this proposed classification system should help better understand these issues and identify solutions.

Alcohol, conscientiousness and event-level condom use

OBJECTIVES Alcohol impairs judgement and could be causally implicated in sexual risk taking. However, meta-analytic studies do not find an association between alcohol use and unprotected sexual intercourse at the event level, where both behaviours refer to the same point in time. Associations between personality traits and sexual risk taking have been replicated across several studies. Traits may be better conceptualized as independent risk factors, where alcohol use mediates the association between personality and condom use. The objective of our study was to determine the direct and indirect effects connecting big five personality traits with condom use, potentially mediated through alcohol use during the most recent sexual encounter. DESIGN A sample of community-dwelling adults (N= 190) completed measures of big five personality traits and a detailed assessment of event-level sexual behaviour and alcohol use. RESULTS In regression model adjusting for known confounding factors, including oral contraceptive use, partner type, and hazardous drinking patterns, one standard deviation increase in conscientiousness was associated with a 1.14-fold increase in the odds of using a condom with most recent sexual partner (p= .04). Repeating the analysis using zero-inflated regression for estimated blood alcohol concentration (eBAC) values revealed an association between conscientiousness and eBAC (p= .002). There was no association between alcohol and condom use in either analysis. CONCLUSIONS The results illustrate that personality traits are strong independent risk factors for sexual risk taking and eBAC values during sexual events, and both should be incorporated into research designs. Future research should evaluate specific facets of conscientiousness, and whether eBAC mediates the association between personality and condom use in other samples. The possibility of tailoring interventions to personality traits is discussed.

Why don't older adults in England go to have their eyes examined?

Preventable sight loss is one of the Public Health Outcome Indicators in England. Despite availability of NHS‐funded eye examinations, many people do not take up their entitlement. This paper explores older adults understanding of eye health and the purpose of eye examinations and the reasons why they do or do not attend for eye examinations. The aim is to provide evidence to inform policy on increasing uptake of eye examinations among older people who have increased risk of preventable sight loss.

Is advice incompatible with autonomous informed choice? Women’s perceptions of advice in the context of antenatal screening: a qualitative study

Background  Patient autonomy in antenatal screening is a high priority for policy developers in many countries.