Evaluation of the Social Services and Well-being (Wales) Act 2014: Literature Review

Evaluation of the Social Services and Well-being (Wales) Act 2014: Literature Review Edited by: Llewellyn, M., Verity, F. and Wallace, S. Chapter authors: Chapter 1: Evaluation Overview and Literature Methodology Verity, F., Wallace, S., Llewellyn, M., Anderson, P. and Lyttleton-Smith, J. Chapter 2: Well-being literature review Anderson, P., Lyttleton-Smith, J., Kosnes, L., Read, S., Blackmore, H. and Williams, Z. Chapter 3: Prevention and early intervention literature review Verity, F., Read, S. and Richards, J. Chapter 4: Co-production literature review Andrews, N., Calder, G., Blanluet, N., Tetlow, S. and Wallace, S. Chapter 5: Multi-agency literature review Wallace, C., Orrell, A., Garthwaite, T., Tetlow, S. and Wallace, S. Chapter 6: Voice and control literature review Llewellyn, M., Saltus, R., Blackmore, H., Tetlow, S., Williams, Z. and Wallace, S. Chapter 7: Financial and economic literature review Phillips, C., Prowle, M., Tetlow S. and Williams Z.Mae’r ddogfen yma hefyd ar gael yn Gymraeg. This document is also available in Welsh. OGL © Crown Copyright Digital ISBN 978-1-80038-948-9.This document is a summary of the extensive review of the literature to inform the evaluation of the Social Services and Well-being (Wales) Act 2014 (hereafter referred to as ‘the Act’).Welsh Governmen

Evaluation of the Social Services and Well-being (Wales) Act 2014: Literature Review

The author list for the literature review is provided below: Evaluation of the Social Services and Well-being (Wales) Act 2014: Literature Review Chapter authors: Introduction and methods Verity, F., Wallace, S., Llewellyn, M., Anderson, P. and Lyttleton-Smith, J. Well-being Anderson, P., Lyttleton-Smith, J., Kosnes, L., Read, S., Blackmore, H. and Williams, Z. Prevention and early intervention Verity, F., Read, S. and Richards, J. Co-production Andrews, N., Calder, G., Blanluet, N., Tetlow, S. and Wallace, S. Multi-agency Wallace, C., Orrell, A., Garthwaite, T., Tetlow, S. and Wallace, S. Voice and control Llewellyn, M., Saltus, R., Blackmore, H., Tetlow, S., Williams, Z. and Wallace, S. Financial and economic Phillips, C., Prowle, M., Tetlow, S. and Williams, Z. Service user and carer experiences under the Act Wallace, S.This report is a summary of the extensive review of the literature to inform the evaluation of the Social Services and Well-being (Wales) Act 2014. This document is a summary of the extensive review of the literature undertaken to inform the evaluation of the Social Services and Well-being (Wales) Act 2014 (hereafter referred to as ‘the Act’).1 The Welsh Government has commissioned a partnership between academics across four universities in Wales and expert advisers to deliver the evaluation. The Act sets out a government vision to produce ‘transformative changes’ in social service public policy, regulations, and delivery arrangements across Wales. It has 11 parts and is informed by five principles that set out a vision to produce transformative changes in public policy, regulations, and service delivery. Aligned to it are structures, processes, and codes of practice. The Evaluation of the Act – a study called IMPACT – is organised around each of the five principles together with a focus on the financial and economic aspects of the Act’s implementation. The approach to undertaking this evaluation research is to structure the evaluation by using the fundamental principles of the Act as the scaffolding. These principles are: • Well-being • Prevention • Co-Production • Multi-agency working • Voice and control There is also a focus on the financial and economic considerations of the implementation of the Act and this area constitutes the sixth evaluation study theme

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever

BACKGROUND: Familial Mediterranean fever (FMF) is the most frequent of the recurrent inherited fevers. This autosomal recessive disorder is characterised by periodic episodes of fever and serositis that commonly affect the people of Arab, Armenian, Sephardic Jewish and Turkish origin. Most of the described MEFV gene anomalies responsible for the disease are missense mutations. In the absence of any functional test, epidemiological studies or pedigree analyses are the only means of proving the deleterious character of these sequence variations. Evidence was provided by our recent study using a population‐based approach, that the p.E148Q allele is probably a benign polymorphism and not a disease‐causing mutation. Its implication in FMF remains, however, controversial. OBJECTIVE: To evaluate the segregation of the p.E148Q MEFV allele with FMF disease by using pedigree analysis. PARTICIPANTS: 21 patients and 48 unaffected relatives belonging to 18 independent families with FMF. RESULTS: Segregation analysis of the p.E148Q allele was compatible with a Mendelian autosomal recessive transmission of the disease phenotype in only three families. In 15 of 18 families, segregation was partly or completely defective. The p.E148Q allele was not transmitted to 14 of 19 (74%) affected children. CONCLUSIONS: No evidence of preferential transmission of p.E148Q from heterozygous parents to their affected offspring was observed. MEFV is not associated with the clinical manifestations of several patients carrying this variant. Considering p.E148Q to be a benign polymorphism should reduce the possibility of false‐positive diagnoses, while highlighting genetic heterogeneity in FMF