Revealing the human mutome

Chen JM, Férec C, Cooper DN. Revealing the human mutome. The number of known mutations in human nuclear genes, underlying or associated with human inherited disease, has now exceeded 100,000 in more than 3700 different genes (Human Gene Mutation Database). However, for a variety of reasons, this figure is likely to represent only a small proportion of the clinically relevant genetic variants that remain to be identified in the human genome (the ‘mutome’). With the advent of next‐generation sequencing, we are currently witnessing a revolution in medical genetics. In particular, whole‐genome sequencing (WGS) has the potential to identify all disease‐causing or disease‐associated DNA variants in a given individual. Here, we use examples of recent advances in our understanding of mutational/pathogenic mechanisms to guide our thinking about possible locations outwith gene‐coding sequences for those disease‐causing or disease‐associated variants that are likely so often to have been overlooked because of the inadequacy of current mutation screening protocols. Such considerations are important not only for improving mutation‐screening strategies but also for enhancing the interpretation of findings derived from genome‐wide association studies, whole‐exome sequencing and WGS. An improved understanding of the human mutome will not only lead to the development of improved diagnostic testing procedures but should also improve our understanding of human genome biology.     

Investigating communication in cancer consultations: what can be learned from doctor and patient accounts of their experience?

This study investigated how doctors and patients diagnosed with advanced incurable cancer experienced the disclosure of bad news. The intention was to gain contrasting perspectives of the processes involved in oncology consultations. Sixteen doctors and 16 patients from a cancer centre in the UK participated in the study. A series of consultations were observed and audio recorded, and the perspectives of doctors, patients and relatives were investigated through semi‐structured interviews. Participants were invited to describe how they experienced and felt about the disclosure of information over a period of time following a specific consultation. Analysis was based on a constant comparative method. This research suggests that patients control what they do or do not do with information to meet their own needs and objectives, but doctors do not necessarily appreciate this. Doctors do not always prepare patients for what is happening to them in an active open awareness context, and this can be stressful for some patients. The results indicate that communication is not just about one person making decisions. They also indicate that in many cases more success could be gained from finding out how patients prefer to manage and control the exchange of bad news, at different points, through their care pathway.     

Involving communities in health service planning in primary care

Recent health service policy in the United Kingdom has emphasized the need to involve local people in health service planning. This paper will describe how local communities were involved in the development of Primary Care Resource Centres. These centres are designed to provide a base for the delivery of a range of health, social welfare and information services within a community setting. Four centres in the process of being developed in one region were selected for in-depth study. The main method of data collection consisted of semi-structured interviews with key “stakeholders”, namely purchasers and providers of primary health care, social care providers, hospital outreach staff and local community and voluntary group workers (Weiss 1983). This paper examines how the health service organizations developing the centres involved local communities in planning them and the obstacles and difficulties encountered. The paper suggests lessons that can be learned for future community involvement in the planning of local health services.     

Clinical supervision: insider reports of a private world

An exploratory study, funded by the Department of Health, London and the Scottish Home and Health Department, Edinburgh, was conducted over an 18-month period to provide an informed view on possible assessment tools that could be used to assess the impact of clinical supervision (CS) in nursing and to report on the CS activities in 23 selected sites in England and Scotland. The study not only examined the utility of several standardized research instruments, to be reported separately, but also explored the experience of a small sub-sample of nurses ( n =34) engaged in CS, as supervisors and supervisees. Interviews were undertaken to help better understand some of the issues involved around the domains of structure, process and outcome. Respondents reported an enthusiasm for the opportunity to talk meaningfully to a trusted colleague about their personal circumstances at work. Such opportunities were particularly welcomed by nurses who wished to reflect upon their own practice with patients, especially when dealing with their clinical conditions which were upsetting, or otherwise challenging, and sometimes harrowing. Substantive and methodological areas of interest for future research are suggested.