The genetic counseling profession in Austria: Stakeholders' perspectives.

In contrast to most European countries, genetic counseling in Austria, Germany, and German-speaking Switzerland is exclusively carried out by medical doctors. In this study, we investigate the perspectives of key clinician stakeholders in Austrian genetics services regarding prerequisites, opportunities, and challenges of implementing master's trained genetic counselors. Semi-structured interviews with open-ended questions and thematic analysis were carried out with nine participants, mostly medical geneticists at different hierarchy levels from three Centers for Medical Genetics in Austria.

A Maturity Matrix for Nurse Leaders to Facilitate and Benchmark Progress in Genomic Healthcare Policy, Infrastructure, Education, and Delivery.

Purpose: Nurse leaders driving strategic integration of genomics across nursing need tools and resources to evaluate their environment, guide strategies to address deficits, and benchmark progress. We describe the development and pilot testing of a self-assessment maturity matrix (MM) that enables users to benchmark the current state of nursing genomic competency and integration for their country or nursing group; guides the development of a strategic course for improvement and implementation; and assesses change over time.

Design: Mixed-methods participatory research and self-assessment.

A Roadmap for Global Acceleration of Genomics Integration Across Nursing.

Purpose: The changes needed to accelerate integration of genomics across nursing are complex, with significant challenges faced globally. Common themes lend themselves to a coordinated and collaborative strategic approach to sustained change. We aim to synthesize the outputs of a research program to present a roadmap for nursing leadership to guide integration of genomics across practice.

Exploring professional issues: the psychosocial component of genetic counseling in genomic healthcare.

To determine UK genetic counselors' (UKGCs) opinion regarding 'the psychosocial component of the UKGC remit in the new genomics era'. Facilitated discussions at a national conference (2016) using interactive methodologies (58 participants). UKGCs recognized the rapid rate of change emerging with advances in genomic science.

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board.

Increasing nursing capacity in genomics: Overview of existing global genomics resources.

Background: Global genomic literacy of all health professions, including nurses, remains low despite an inundation of genomic information with established clinical and analytic validity and clinical utility. Genomic literacy and competency deficits contribute to lost opportunities to take advantage of the benefits that genomic information provides to improve health outcomes, reduce healthcare costs, and increase patient quality and safety. Nurses are essential to the integration of genomics into healthcare.

Direct-to-consumer genetic testing: where and how does genetic counseling fit?

Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to 'research' results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being 'direct-to-consumer' much of this testing bypasses traditional healthcare systems.

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.

Advances in genomic medicine are improving diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. The issue of recontacting is becoming more important with increased integration of genomics in 'mainstream' medicine. Empirical evidence is needed to advance the discussion over whether and how recontacting should be implemented.

The Global Landscape of Nursing and Genomics.

Purpose: Nurses have a pivotal role in bringing the benefits of genomics and precision medicine to everyday health care, but a concerted global effort is needed to transform nursing policy and practice to address widely acknowledged deficits in nurses' genomic literacy. The purpose was to conduct a global country and organization review of nursing engagement with genomics, informing a landscape analysis to assess readiness for integration of genomics into nursing.

Design: Global nursing leaders and nursing organizations were recruited using a purposive sampling strategy to complete an online survey that assessed the scope of genomic integration in practice and education, challenges and barriers, and priorities for action.

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service.

Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic service delivery. It describes and explores collaborative working practices including the utilisation and role of clinical geneticists and non-medical genetic counsellors.

Interventions to improve patient access to and utilisation of genetic and genomic counselling services.

Unlabelled: This is the protocol for a review and there is no abstract. The objectives are as follows.

Primary Objective: The primary objective is to assess the effectiveness of interventions to improve patient identification, access to and utilisation of genetic and genomic counselling services when compared to: No intervention;Usual or current practice; andOther active intervention.

The role of the genetic counsellor: a systematic review of research evidence.

In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence.

Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).

The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest 'opportunistic genomic screening' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), which represents British and Irish genetic counsellors and nurses, feels strongly that the following must be considered (see article for complete list): (1) Following appropriate genetic counselling, patients should be allowed to consent to or opt out of opportunistic genomic screening.

Genetics: examining your competency of practice on a regular basis.

This is the seventh article in a series examining how nurses can develop confidence and competence in genetics and genomics health care. This article focuses on identifying the nurse's awareness of genetic and genomic issues and the effect this has on his or her practice. It considers the importance of reflection in recognising these issues as well as areas where professional development in genetics and genomics may be beneficial.

Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.

Western health care systems are facing today increasing movement of genetic knowledge from research labs into clinical practice. This paper reports the results of a survey that addressed the confidence of primary care physicians in their ability to carry out basic medical genetic tasks. The survey was conducted in five countries (France, Germany, The Netherlands, Sweden and the UK).

General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers' practices.

It is increasingly recognised that genetics will have to be integrated into all parts of primary health care. Previous research has demonstrated that involvement and confidence in genetics varies amongst primary care providers. We aimed to analyse perceptions of primary care providers regarding responsibility for genetic tasks and factors affecting those perceptions.

Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union.

Background: Within Europe many guidelines exist regarding the genetic testing of minors. Predictive and presymptomatic genetic testing of minors is recommended for disorders for which medical intervention/preventive measures exist, and for which early detection improves future medical health.

Aim: This study, which is part of the larger 5th EU-framework "genetic education" (GenEd) study, aimed to evaluate the self-reported responses of nongenetic health-care providers in five different EU countries (Germany, France, Sweden, the United Kingdom, and the Netherlands) when confronted with a parent requesting presymptomatic testing on a minor child for a treatable disease.

Genetics in clinical practice: general practitioners' educational priorities in European countries.

Purpose: To assess how general practitioners (GPs) from European countries prioritized their genetic educational needs according to their geographic, sociodemographic, and educational characteristics.

Methods: Cross-sectional survey, random and total samples of GPs in five European countries (France, Germany, the Netherlands, Sweden, and United Kingdom), mailed questionnaires;

Outcome: Genetic Educational Priority Scale (30 items; six subscores).

Results: A total 1168 GPs answered.

Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale.

Purpose: A scale assessing primary care physicians' priorities for genetic education (The Gen-EP scale) was developed and tested in five European countries. The objective of this study was to determine its factor structure, to test scaling assumptions and to determine internal consistency.

Methods: The sample consisted of 3686 practitioners (general practitioners, gyneco-obstetricians, pediatricians) sampled in France, Germany, the Netherlands, Sweden, and United Kingdom.

Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden.

Objective: to investigate whether practising midwives are adequately prepared to integrate genetic information into their practice.

Design: a cross-sectional, postal, structured questionnaire survey was sent to practising midwives.

Setting: practising midwives from the Netherlands (NL), Sweden (SE) and the United Kingdom (UK).

The use of the life course paradigm and life course charts to explore referral for family history of breast cancer.

Background: Life course research methodologies are used extensively in historical and social science research. In 1998 the life course paradigm was introduced to provide a way of tracing the interplay of person and setting. The method has had a very limited use in nursing research, but in this study it was utilized as a way of capturing dynamic change by placing the individual within a context of four domains; location in time and place, linked lives, human agency and timing of lives.

Genetics teaching for non-geneticist health care professionals in the UK.

Objectives: It was the aim of this study to describe the structure and content of training in genetics for non-genetics specialist health care professionals in the UK.

Methods: Data were collected by assessment of published syllabi and curricula and through contact with educational leads at responsible organisations.

Results: Twenty-six universities, 7 Royal Colleges and various intercollegiate boards and committees are involved in the provision of medical education at various levels, in addition to institutions offering nursing and/or midwifery training.

Genetic education for non-geneticist health professionals.

Objectives: It was the aim of this study to assess educational needs and priorities in genetics amongst non-genetic health professionals.

Methods: The methods used included website reviews and direct contact with individuals and organisations involved in health professional education.

Results And Conclusions: Health professional education and training differed in structure with wide variation in the content and duration of genetics education provided.

Recognising the limitations of your genetics expertise.

The sixth article in this series aims to provide you with sufficient knowledge to refer a client for further genetic assessment. The focus is on the skills needed to recognise the limitations of one's own genetics competence, as described in the competency standard statement; this is that, at the point of registration, all nurses, midwives and health visitors should be able to recognise the limitations of their own genetics experience based on an understanding of their professional role in the referral, provision or follow up to genetics services.