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Assessment and management of pain in pre-hospital care settings are important aspects of paramedic and clinical team roles. As emergency department waiting times and delays in paramedic-to-nurse handover increase, it becomes more and more vital that patients receive adequate pre-hospital pain relief. However, administration of analgesia can be inadequate and can result in patients experiencing oligoanalgesia, or under-treated pain. This article examines these issues along with the aetiology of trauma and the related socioeconomic background of traumatic injury. It reviews validated pain-assessment tools, outlines physiological responses to traumatic pain and discusses some of the misconceptions about the provision of effective analgesia in pre-hospital settings. [ABSTRACT FROM AUTHOR]

The Human Fertilisation and Embryology Authority have recently granted a licence to perform preimplanation genetic diagnosis (PGD) for the homozygous form of familial hypercholesterolaemia (FH), explicitly excluding its use for the heterozygous form. The grounds for such decisions centre on how serious a condition is thought to be as well as on the availability of effective treatment, and decisions are made on a case-by-case basis. The case for licensing homozygous FH is discussed and compared with other cases, and the case for making a distinction between PGD for homozygous and heterozygous FH is also examined. Testing for homozygous FH raises difficult issues of non-disclosure of results for heterozygous FH. Fears that this decision may represent a 'slippery slope' to more widespread testing are argued to be overstated. [ABSTRACT FROM AUTHOR]

The UK Genethics Club was established in November 2001 in order to provide a national forum of ethics support for the profession of clinical genetics in the UK. The forum brings together health professionals, medical ethicists and lawyers and support is provided through detailed discussion of cases and sharing of good practice. Clinical genetics professionals had previously voiced concerns about making extremely difficult ethical decisions, with profound implications, in something of a vacuum. Professionals saw a lack of guidance in the area and lack of time for discussion of difficult cases as reasons for this. This paper describes the origins of the group and gives (anonymized) examples of some of the types of issues discussed. [ABSTRACT FROM AUTHOR]

The authors support the confidentiality guidelines issued by the General Medical Council of Great Britain in 2009. The authors point out that the guidelines specifically mention the possibility of breaching a patient's confidentiality to share genetic information with relatives. Measures that can prevent serious harm to relatives are also elaborated in the said guidelines. The authors weighed the possible implications of a decision making requirement for health professionals.

BACKGROUND Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. METHODS We conducted a large-scale sequencing study involving more than 13,500 families with probands with severe, probably monogenic, difficult-to-diagnose developmental disorders from 24 regional genetics services in the United Kingdom and Ireland. Standardized phenotypic data were collected, and exome sequencing and microarray analyses were performed to investigate novel genetic causes. We developed an iterative variant analysis pipeline and reported candidate variants to clinical teams for validation and diagnostic interpretation to inform communication with families. Multiple regression analyses were performed to evaluate factors affecting the probability of diagnosis. RESULTS A total of 13,449 probands were included in the analyses. On average, we reported 1.0 candidate variant per parent–offspring trio and 2.5 variants per singleton proband. Using clinical and computational approaches to variant classification, we made a diagnosis in approximately 41% of probands (5502 of 13,449). Of 3599 probands in trios who received a diagnosis by clinical assertion, approximately 76% had a pathogenic de novo variant. Another 22% of probands (2997 of 13,449) had variants of uncertain significance in genes that were strongly linked to monogenic developmental disorders. Recruitment in a parent–offspring trio had the largest effect on the probability of diagnosis (odds ratio, 4.70; 95% confidence interval [CI], 4.16 to 5.31). Probands were less likely to receive a diagnosis if they were born extremely prematurely (i.e., 22 to 27 weeks’ gestation; odds ratio, 0.39; 95% CI, 0.22 to 0.68), had in utero exposure to antiepileptic medications (odds ratio, 0.44; 95% CI, 0.29 to 0.67), had mothers with diabetes (odds ratio, 0.52; 95% CI, 0.41 to 0.67), or were of African ancestry (odds ratio, 0.51; 95% CI, 0.31 to 0.78). CONCLUSIONS Among probands with severe, probably monogenic, difficult-to-diagnose developmental disorders, multimodal analysis of genomewide data had good diagnostic power, even after previous attempts at diagnosis. (Funded by the Health Innovation Challenge Fund and Wellcome Sanger Institute.) [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article on the need of ethical review of medical research which was published in the previous issue of the journal.

The author presents his views on the National Health Service (NHS) white paper for England, which recommends the replacement of primary care trusts (PCT) and strategic health authorities (SHA) with general practice (GP) consortia and a national commissioning board (NCB). He emphasizes the necessity of planning and synergy of new and old organizational structures in implementing these changes. The precise definition of a good healthcare provision is also reiterated by the author.

Patient and public involvement (PPI) has gained widespread support in health research and health policy circles, but there is little consensus on the precise meaning or justifications of PPI. We argue that an important step towards clarifying the meaning and justification for PPI is to split apart the familiar acronym and draw a distinction between patient and public involvement. Specifically, we argue that patient involvement should refer to the practice of involving individuals in health research or policy on the basis of their experience with a particular condition, while public involvement should refer to the practice of involving individuals in health policy or research based on their status as members of a relevant population. Analyzing cases from the UK, Australia, and the USA, we show how our proposed distinction can deliver much needed clarity to conversations on PPI, while guiding the development and evaluation of future PPI‐based policies. [ABSTRACT FROM AUTHOR]

Objective: To assess the feasibility of a randomized controlled trial to evaluate music therapy as a home-based intervention for arm hemiparesis in stroke. Design: A pilot feasibility randomized controlled trial, with cross-over design. Randomization by statistician using computer-generated, random numbers concealed in opaque envelopes. Setting: Participants’ homes across Cambridgeshire, UK. Subjects: Eleven people with stroke and arm hemiparesis, 3–60 months post stroke, following discharge from community rehabilitation. Interventions: Each participant engaged in therapeutic instrumental music performance in 12 individual clinical contacts, twice weekly for six weeks. Main measures: Feasibility was estimated by recruitment from three community stroke teams over a 12-month period, attrition rates, completion of treatment and successful data collection. Structured interviews were conducted pre and post intervention to establish participant tolerance and preference. Action Research Arm Test and Nine-hole Peg Test data were collected at weeks 1, 6, 9, 15 and 18, pre and post intervention by a blinded assessor. Results: A total of 11 of 14 invited participants were recruited (intervention n = 6, waitlist n = 5). In total, 10 completed treatment and data collection. Conclusion: It cannot be concluded whether a larger trial would be feasible due to unavailable data regarding a number of eligible patients screened. Adherence to treatment, retention and interview responses might suggest that the intervention was motivating for participants. Trial registration: ClinicalTrials.gov identifier NCT 02310438. [ABSTRACT FROM AUTHOR]

Research and clinical activities are often portrayed as arising from different motivations and having different goals. This study sought to determine lay and professional understandings of research and clinical care within the translational subspecialty of cancer genetics. Fifty-nine lay research participants and 20 professional stakeholders were interviewed. Research and clinical care were described in similar ways by both groups of interviewees, who distinguished these activities according to their temporal orientation and focus. Stakeholders' accounts tended to focus upon the epistemological motivations underlying research activities, whereas research participants emphasized concrete goals, for example, finding a cure for cancer. We discuss the implications of these findings for informed consent. We argue that informed consent for research and clinical interventions should be redefined so that establishing potential research participants'/patients' understanding of the purpose of an intervention, why it is taking place, should be seen as secondary to confirming their understanding of its nature, namely, what will happen and the associated risks. [ABSTRACT FROM AUTHOR]

The International Nucleotide Sequence Database Collaboration (INSDC) exchanges sequence data on a daily basis across its three member organizations in the USA, UK and Japan. This paper studies how this sequence database in MySQL can best take advantage of the increased transfer bandwidth of a Grid-optimized data communication protocol. Within the context of the UK Government Project Grid-oriented Storage (GOS) and the EC Project EuroAsiaGrid, GOS File System (GOS-FS) has been developed in our lab, which melds distributed file system technology with high performance data transfer techniques to meet the needs of WAN/Grid-based virtual organizations. A real-world test shows that the INSDC sequence database backing up operation, mysqldump, over the GOS-FS protocol beats those over the classic NFS protocol by 6 times over the link between Cambridge and Tokyo. Best of all, the multi-streamed GOS-FS protocol remains fully compatible with existing IF infrastructures. [ABSTRACT FROM AUTHOR]