Inter-Laboratory Evaluation of a Next-Generation Sequencing Panel for Acute Myeloid Leukemia

INTRODUCTION: Acute myeloid leukemia (AML) is a heterogeneous clonal disorder often associated with dismal overall survival. The clinical diversity of AML is reflected in the range of recurrent somatic mutations in several genes, many of which have a prognostic and therapeutic value. Targeted next-generation sequencing (NGS) of these genes has the potential for translation into clinical practice. In order to assess this potential, an inter-laboratory evaluation of a commercially available AML gene panel across three diagnostic centres in the UK and Ireland was performed.

METHODS: DNA from six AML patient samples was distributed to each centre and processed using a standardised workflow, including a common sequencing platform, sequencing chips and bioinformatics pipeline. A duplicate sample in each centre was run to assess inter- and intra-laboratory performance.

RESULTS: An average sample read depth of 2725X (range 629-5600) was achieved using six samples per chip, with some variability observed in the depth of coverage generated for individual samples and between centres. A total of 16 somatic mutations were detected in the six AML samples, with a mean of 2.7 mutations per sample (range 1-4) representing nine genes on the panel. 15/16 mutations were identified by all three centres. Allelic frequencies of the mutations ranged from 5.6 to 53.3 % (median 44.4 %), with a high level of concordance of these frequencies between centres, for mutations detected.

CONCLUSION: In this inter-laboratory comparison, a high concordance, reproducibility and robustness was demonstrated using a commercially available NGS AML gene panel and platform.

GPs’ and community pharmacists’ opinions on medication management at transitions of care in Ireland

Objective. The aim of this study was to survey GPs and community pharmacists (CPs) in Ireland regarding current practices of medication management, specifically medication reconciliation, communication between health care providers and medication errors as patients transition in care.
Methods. A national cross-sectional survey was distributed electronically to 2364 GPs, 311 GP Registrars and 2382 CPs. Multivariable associations comparing GPs to CPs were generated and content analysis of free text responses was undertaken.
Results. There was an overall response rate of 17.7% (897 respondents—554 GPs/Registrars and 343 CPs). More than 90% of GPs and CPs were positive about the effects of medication reconciliation on medication safety and adherence. Sixty per cent of GPs reported having no formal system of medication reconciliation. Communication between GPs and CPs was identified as good/very good by >90% of GPs and CPs. The majority (>80%) of both groups could clearly recall prescribing errors, following a transition of care, they had witnessed in the previous 6 months. Free text content analysis corroborated the positive relationship between GPs and CPs, a frustration with secondary care communication, with many examples given of prescribing errors.
Conclusions. While there is enthusiasm for the benefits of medication reconciliation there are limited formal structures in primary care to support it. Challenges in relation to systems that support inter-professional communication and reduce medication errors are features of the primary/secondary care transition. There is a need for an improved medication management system. Future research should focus on the identified barriers in implementing medication reconciliation and systems that can improve it.

Mapping Ireland’s Energy Pathways: Characterizing and Catalyzing Transition

In 2015 Ireland has arguably begun to make its first bold steps in confronting the challenges of energy transition, with the objective of a “low carbon, climate resilient and environmentally sustainable economy by the end of the
year 2050” expressed in the 2015 Climate Action and Low Carbon Development Bill and the 2015 Energy Bill acknowledging that energy transformation relied on a new breed of ‘energy citizens’. These represent the first formal articulation of Ireland’s ambition to engage in a radical, long-term and far-reaching transition process, and raises a myriad of questions over how this can be operationalised, resourced and whether it can maintain political momentum. A range of perspectives on these issues is provided in the growing body of literature on transition theories (Rotmans et al 2001, Markard et al 2012) and the inter-disciplinary EPA-funded CC Transitions project, based at Queen’s University Belfast, represents an attempt to translate this into the context of Ireland’s institutions and technological profile. By relating this to international research on sustainability transitions, which conceptualises transitions as multi-level, multi-phase and multi-actor processes, this paper will explore the opportunities of alternative pathways that could take Ireland towards a more progressing, inclusive and effective low carbon future. Drawing on a number of case studies it will highlight some of the capacities for transition required in Irish society: where these exist, how they are being built or enabled, and the barriers to wider social change.