A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children.

BACKGROUND: Learning disability (LD) is a serious and lifelong condition characterised by the impairment of cognitive and adaptive skills. Some cases of LD with unidentified causes may be linked to genetic factors. Next-generation sequencing (NGS) techniques are new approaches to genetic testing that are expected to increase diagnostic yield. OBJECTIVES: This scoping study focused on the diagnosis of LD in children and the objectives were to describe current pathways that involve the use of genetic testing; collect stakeholder views on the changes in service provision that would need to be put in place before NGS could be used in clinical practice; describe the new systems and safeguards that would need to be put in place before NGS could be used in clinical practice; and explore the cost-effectiveness of using NGS compared with conventional genetic testing. METHODS: A research advisory group was established. This group provided ongoing support by e-mail and telephone through the lifetime of the study and also contributed face-to-face through a workshop. A detailed review of published studies and reports was undertaken. In addition, information was collected through 33 semistructured interviews with key stakeholders. RESULTS: NGS techniques consist of targeted gene sequencing, whole-exome sequencing (WES) and whole-genome sequencing (WGS). Targeted gene panels, which are the least complex, are in their infancy in clinical settings. Some interviewees thought that during the next 3-5 years targeted gene panels would be superseded by WES. If NGS technologies were to be fully introduced into clinical practice in the future a number of factors would need to be overcome. The main resource-related issues pertaining to service provision are the need for additional computing capacity, more bioinformaticians, more genetic counsellors and also genetics-related training for the public and a wide range of staff. It is also considered that, as the number of children undergoing genetic testing increases, there will be an increase in demand for information and support for families. The main issues relating to systems and safeguards are giving informed consent, sharing unanticipated findings, developing ethical and other frameworks, equity of access, data protection, data storage and data sharing. There is little published evidence on the cost-effectiveness of NGS technologies. The major barriers to determining cost-effectiveness are the uncertainty around diagnostic yield, the heterogeneity of diagnostic pathways and the lack of information on the impact of a diagnosis on health care, social care, educational support needs and the wider family. Furthermore, as NGS techniques are currently being used only in research, costs and benefits to the NHS are unclear. CONCLUSIONS: NGS technologies are at an early stage of development and it is too soon to say whether they can offer value for money to the NHS as part of the LD diagnostic process. Substantial organisational changes, as well as new systems and safeguards, would be required if NGS technologies were to be introduced into NHS clinical practice. Considerable further research is required to establish whether using NGS technologies to diagnose learning disabilities is clinically effective and cost-effective. FUNDING: The National Institute for Health Research Health Technology Assessment programme.

Quality assurance and UK nurse education.

AIM: To evaluate the quality assurance model for nursing education in the United Kingdom (UK) for the first nine months after the inception in 2002 of the Nursing and Midwifery Council (NMC). METHOD: A specially designed questionnaire was administered to representatives of higher education institutions where nurse education took place and representatives of the NMC in all four countries of the UK. RESULTS: Quality assurance activity had taken place across the UK, mostly in the shape of validation events. Quality assurance events proceeded largely as expected by higher education and NMC representatives. There was a statistically significant trend towards greater preparedness and knowledge for validation and satisfaction with the new quality assurance procedures in Scotland, Wales and Northern Ireland compared with England. CONCLUSION: At the time of this study the new quality assurance procedures were less than 12 months old and there may have been resistance to change in England where the changes were greatest.

Quality assurance in UK nursing education: public protection in the era of streamlined assessment.

This paper describes recent reforms of quality assurance (QA) for the education of nurses, midwives and health visitors and reports qualitative findings from a study of how they are working out in practice. This study reported whether the stakeholders consider the system to be adequate for the principal aim of public protection. Using a postal survey and interviews, QA in nursing, midwifery and health visiting is compared and contrasted in the four countries of the United Kingdom. Issues of subjectivity versus objectivity in decision making over QA of nursing, midwifery and health visiting education and the extent to which these processes are rigorous arose. There is an inverse relationship between the number of higher education institutions in a country and the extent to which nursing, midwifery and health visiting QA personnel, responsible for conducting QA events, become involved with those institutions in offering advice and support. Generally speaking, where the changes have been greatest, satisfaction with the QA processes is lowest. Dissatisfaction was only expressed with processes and most likely arose from resistance to change but these are early days in the operation of the new QA procedures.

Patient access. To the ENT degree.

Evaluation of six pilot schemes using specialist GPs to provide ENT services in the community suggests these innovations are popular with patients and have the potential to reduce waiting times. Waiting times in one area, where a specialist GP had been in post for three years, were down to 24 days. The schemes need champions in primary and secondary care and must fit well with the strategy of the local health economy.