Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide an update of selected topics that have evolved since 2005

Education improves referral of patients suspected of having spondyloarthritis by general practitioners: a study with unannounced standardised patients in daily practice

Objectives: To evaluate the practice performance of general practitioners (GPs) and GP residents in recognising and referring patients suspected for having axial or peripheral spondyloarthritis (SpA), and to investigate the influence of education on this performance. Methods: GP (residents) were visited in two rounds by standardised patients (SPs) simulating axial SpA, peripheral SpA or carpal tunnel syndrome (CTS) with in between an educational intervention on SpA for part of the participants. Participants were unaware of the nature of the medical problem and study purpose. CTS was included as diversionary tactic. The primary outcome was >= 40% improvement in (considering) referral of the SPs with SpA to the rheumatologist after education. Secondary outcomes included ordering additional diagnostic tests, correct recognition of SpA and identification of variables contributing to this. Results: 68 participants (30 GPs and 38 GP residents) were included, of which 19 received education. The primary outcome was met. A significantly higher proportion of GP (residents) from the intervention group referred patients to the rheumatologist compared with the control group after education (change scores, axial SpA +71% vs +15% (p Conclusions: Recognition and referral of patients suspected for having SpA by GP (residents) is low, but targeted education markedly improved this. This supports the development of educational initiatives to improve recognition of SpA and hence referral to a rheumatologist

Should we assess clinical performance in single patient encounters or consistent behaviors of clinical performance over a series of encounters? A qualitative exploration of narrative trainee profiles

BACKGROUND: A variety of tools have been developed to assess performance which typically use a single clinical encounter as a source for making competency inferences. This strategy may miss consistent behaviors. We therefore explored experienced clinical supervisors' perceptions of behavioral patterns that potentially exist in postgraduate general practice trainees expressed as narrative profiles to aid the grading of clinical performance. METHODS: We conducted semistructured interviews with clinical supervisors who had frequently observed clinical performance in trainees. Supervisors were asked to describe which behavioral patterns they had discerned in excellent and underperforming trainees, during different stages of training, in their careers as clinical supervisor. We analyzed the interviews using a grounded theory approach. RESULTS: The analysis resulted in a conceptual framework that distinguishes between desirable and undesirable narrative profiles. The framework consists of two dimensions: doctor-patient interaction and medical expertise. Personal values appear to be a moderating factor. CONCLUSIONS: According to experienced clinical supervisors, consistent behaviors do exist in GP trainees when observing clinical performance over time. The conceptual framework has to be validated by further observational studies to assess its potential for making robust and fair assessments of clinical performance and monitor the development of consultation performance over time