The role of genomic assistants, associates, and practitioners (GenPs) in the NHS in England: demographics, future career plans and key challenges.

As the range and complexity of genomic testing has expanded over the past decade, genetic services need support to provide the best care for patients. Throughout the NHS in England, genetic assistant, associate and practitioner roles (GenPs) have been created to tackle some of the issues genetic services are facing. However, to date there is limited information about these roles and the individuals that take these up. The aim of this workforce evaluation was to explore the demographics, career plans and roles of GenPs as well as the benefits and challenges for these individuals to improve service delivery and care for patients. This is a mixed methods study. Firstly, an online survey was sent to current and previous GenPs to which we received 56 eligible responses. Those who completed the survey were invited to take part in focus groups to explore the benefits and challenges of these roles further. 17 GenPs expressed interest and 11 took part. These were recorded, transcribed verbatim and thematically analysed to extract themes. Our results show there is variability between tasks performed by individuals in these roles even with the same job titles. This highlights a need for a defined scope to ensure appropriate boundaries of the role. This data also highlights the need for further training, support and career progression pathways for these individuals.

Building the Genetic Counsellor Profession in the United Kingdom: Two Decades of Growth and Development

Pinnaplasty - A dwindling art in today's modern NHS

The state of the medical geneticist workforce: Findings of the 2003 survey of American Board of Medical Genetics certified geneticists

In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues. This is a mixed-method study, analyzing quantitatively and qualitatively the activities of seven medical genetics services in Emilia-Romagna region. Quantitative analysis considered the number of consultations and the composition of the staff in the year 2021. Qualitative analysis examined a focus group of directors of the services through reflexive thematic analysis. A total of 14,925 counseling sessions have been delivered by the medical genetics services, staffed with 22.4 full-time equivalent clinical geneticists. A physician performed an average of 14.5 consultations per week and approximately 1166 h of patient care per year. The clinical geneticists/inhabitants ratio was 0.54 per 100,000 inhabitants, and it is estimated that one every 278 inhabitants, on average, underwent a genetic counseling session in 2021. Qualitative analysis highlighted issues concerning patients’ access to service, general organization and staff composition. In order to meet the growing demand for genetic counseling services, expansion of the workforce and adjustment of current practice models are required to increase the access to genetic services and the application of test results to clinical management.

Please Wait for the Host to Start This Meeting: A Push for H.R. 3235 Amid COVID-19.

A opção pela medicina e os planos em relação ao futuro profissional de estudantes no início do ciclo profissional foram avaliados em pesquisa que utilizou metodologia qualitativa de análise de duas questões abertas, uma delas sobre a opção pelo curso, os fatos e fatores que influenciaram a escolha, e outra sobre os planos futuros em relação à profissão e aos fatores que, no momento, orientam esses planos. A justificativa para o estudo foi reconhecer que as motivações para a escolha da medicina são complexas e mutáveis no decorrer do tempo e que a opção pela especialização tem sido precoce. Os resultados encontrados confirmaram várias achados da literatura para a opção pela medicina, incluindo os mecanismos inconscientes, mas diferiram no fato de a inserção no mercado de trabalho e a possibilidade de bons salários estarem entre os mais citados, depois do altruísmo. Em relação aos planos para o futuro, fica evidente a preocupação em conciliar vida profissional e vida pessoal com qualidade. Embora muitos estudantes ainda não tenham planos definidos e queiram apenas fazer um bom curso, o exercício de especialidade médica e a preocupação com a residência médica já estão presentes nesta fase do curso.

Health on the agenda in Scottish independence referendum

Advances in molecular medicine and increasing attention of the media to clinical developments in genetics have spurred the demand for genetic counselling services for several conditions, most notably for hereditary...

SummaryBackgroundClimate change threatens to undermine the past 50 years of gains in public health. In response, the National Health Service (NHS) in England has been working since 2008 to quantify and reduce its carbon footprint. This Article presents the latest update to its greenhouse gas accounting, identifying interventions for mitigation efforts and describing an approach applicable to other health systems across the world.MethodsA hybrid model was used to quantify emissions within Scopes 1, 2, and 3 of the Greenhouse Gas Protocol, as well as patient and visitor travel emissions, from 1990 to 2019. This approach complements the broad coverage of top-down economic modelling with the high accuracy of bottom-up data wherever available. Available data were backcasted or forecasted to cover all years. To enable the identification of measures to reduce carbon emissions, results were disaggregated by organisation type.FindingsIn 2019, the health service's emissions totalled 25 megatonnes of carbon dioxide equivalent, a reduction of 26% since 1990, and a decrease of 64% in the emissions per inpatient finished admission episode. Of the 2019 footprint, 62% came from the supply chain, 24% from the direct delivery of care, 10% from staff commute and patient and visitor travel, and 4% from private health and care services commissioned by the NHS.InterpretationThis work represents the longest and most comprehensive accounting of national health-care emissions globally, and underscores the importance of incorporating bottom-up data to improve the accuracy of top-down modelling and enabling detailed monitoring of progress as health systems act to reduce emissions.FundingWellcome Trust.

Students’ attitudes towards people with a disability, their perceptions of the characteristics of a successful occupational therapist, and their future career plans were surveyed on entry to and exit from the Bachelor of Occupational Therapy course at the University of Queensland in Brisbane, Australia. Factors impacting on students’ career plans were also examined. Questionnaires were administered to 84 students on the first day of the course in 1994 and to 59 students on the last day of the course in 1997. Descriptive statistics were used to summarise and compare the data. While generally positive on entry to the course, students’ attitudes were even more positive on completion. Entry and exit perceptions of the characteristics considered important to being a successful occupational therapist were closely aligned with the values and ideals of the profession. At both survey points, students indicated a reluctance to pursue work in non‐metropolitan areas and in psychosocial, research and academic fields. Clinical placements and particular clinicians were identified as having the greatest impact on students’ career plans. These findings provide support for the notions that student self‐selection into occupational therapy may assist in bringing aware students to the course and that clinical experiences during the course serve as potent influences on future career plans. Tailored use of the processes of socialisation within occupational therapy courses may assist in attracting therapists to particular geographical and clinical areas.

The National Health Service (NHS) in England is undoubtedly facing serious challenges. The founding principles of the NHS provide some structural advantages around efficiency and more universal healthcare coverage. The NHS bears the scars from the Covid-19 pandemic, but some of the deteriorating trends in performance, including productivity, pre-date the pandemic, and the NHS has lagged behind other countries in terms of quality and outcomes of care. Certainly, persistent deprioritization of long-term investment has left the NHS lacking the premises and resources to sufficiently support staff in delivering care. Given the size and complexity of the NHS in England, the policy challenges and opportunities are vast and complex. However, in the current context, certain areas require particular attention. . First, the NHS in England has to date failed to make best use of allocations of both funding—including insufficient investment in public health and capital—and staff, particularly around the balance of different professions and their distribution across services and geographies. Second, the productivity of the NHS in England is being hindered by some underlying conditions, including around staff engagement and incentive structures for NHS providers. While the NHS has been subject to an ever-increasing number of long-term plans, commissions, and investigations, arguably there has been a lack of robust policy mechanisms to deliver on the ambitions. However, there are examples of policies from the NHS’s history that have shown promising results and, as such, provide scope for optimism.

Background: Genetic knowledge has expanded significantly over recent decades, resulting in an enhanced comprehension of genetic diseases. The discipline of genetic counseling originated in the United States in 1969 at Sarah Lawrence College in New York and has subsequently achieved global dissemination. Notably, only a limited number of studies have examined the level of awareness regarding genetic counseling and genetic literacy. Genetic counseling is of paramount importance as it facilitates patients’ understanding and acceptance of complex genetic information and diagnostic outcomes, thereby enabling them to effectively manage the personal and familial ramifications. Furthermore, numerous impediments obstruct access to genetic services. A principal barrier is the insufficiency of specialized genetic knowledge among general healthcare practitioners, which undermines their ability to integrate genetic considerations into routine clinical practice. Objective: The objective of this study is to evaluate the perception of genetic knowledge and the level of awareness regarding genetic counseling and related genetic services among physicians and nurses in the North Al Sharqia region of Oman. Methods: This study aims to assess the genetic knowledge and the level of awareness regarding genetic counseling and related genetic services among doctors and nurses in Oman. Data were collected via a structured questionnaire administered in the North Sharqia region, with a total of 160 participants. The analysis of the collected data was performed using the SPSS statistical program. Results: There is a statistically significant association between the department in which participants work and their level of genetic knowledge (p = 0.009, p < 0.01). Previous studies indicate that healthcare professionals in the pediatric department, including both doctors and nurses, tend to possess a higher level of genetic knowledge due to their increased exposure to children with genetic disorders. Additionally, there is a statistically significant association between exposure to genetic counseling and the level of awareness regarding genetic counseling and related services. This finding suggests that healthcare professionals with greater exposure to genetic counseling demonstrate enhanced awareness and understanding of the associated services. Conclusion: Compared to previous studies, there has been a notable improvement in genetic knowledge and the awareness of genetic services and counseling. Nevertheless, further efforts are warranted to elevate these aspects to higher standards. This study underscores the critical importance of genetic counseling and advocates for the broad dissemination of genetic knowledge through media channels, as well as its integration into the training programs for physicians and nurses. Moreover, it is essential to ensure that healthcare professionals are thoroughly informed about the services provided by genetic centers and the range of tests available at local health centers, particularly those pertinent to premarital counseling.

Genetic service providers have stressed the importance of genetic counseling that is nondirective and specific to the personal needs of consultants. Successful genetic counseling for deaf persons often requires special provisions for complex family histories, syndromic conditions, and diversity in communication methods and cultural orientation. The Gallaudet University Genetic Services Center (GSC) was established in 1984 to provide genetic education and counseling services to the deaf community. The GSC staff developed and implemented a standardized system of data collection (family and medical history), clinical evaluation by consultant clinical geneticists, and counseling in sign language. In addition to clinical services, an in-depth educational program for professionals and consumers was developed and carried out. During a 6-year period, over 220 educational presentations were made and 659 deaf persons were seen for genetic evaluation and counseling. Most of these persons were self-referred. Sign language was the preferred means of communication of more than 90% of these individuals. A genetic cause of deafness was diagnosed in over 50% of the deaf consultants and was confirmed by segregation analysis, which had results similar to those reported for other studies of students in schools for the deaf. Special materials and strategies were developed in order to provide genetic services that were sensitive to the cultural and linguistic differences of the deaf population. These included written and visual materials that contained culturally neutral terminology and training of all staff members in sign language and the culture of the deaf.

In 2019, the Medical University of Innsbruck introduced the first Genetic and Genomic Counseling master's program in the German‐speaking countries. A major challenge of this process was the absence of practicing Genetic Counselors (GC) in these countries, leading to a lack of experience with GCs in medical genetic services and the absence of a legal framework for the profession. Consequently, student placements within the program commenced with neither the students nor their supervising consultants having any previous experience of collaborative teamwork between clinical geneticists and GCs. To share insights from the initial implementation phase, supervising consultants from the seven student placement institutes were invited to participate in semi‐structured interviews guided by open‐ended questions. From these interviews, three models of interprofessional teamwork between GCs and clinical geneticists emerged: (1) the alternating or tandem model, (2) qualified preliminary and follow‐up patient interviews, and (3) the provision of genetic (counseling) services without genetic counseling in the legal sense. In addition, the interviewees provided recommendations for addressing legal concerns and for the effective establishment of appropriate compensation structures for GCs within the German‐speaking countries. Clinical geneticists taking part in the study estimated that the integration of GCs could potentially enhance their counseling capacity by as much as 50%. Importantly, they did not foresee any reduction in counseling quality caused by the inclusion of GCs. This study provides evidence that the GC profession can provide additional skills to human genetic services and positively impact both patient support and overall capacity of genetic services also in the German‐speaking countries.