Non-genetic Health Professionals Research Articles

Non-genetic physicians' knowledge, attitudes and behavior towards medical genetics.

To examine the knowledge, behavior, and attitudes toward medical genetics among obstetrics and gynecology, pediatrics, and neurology residents and specialists, who encounter the highest number of patients with specific genetic disorders, in their everyday practice. The cross-sectional study involved 182 nongenetic residents and specialists in the Republic of Croatia, who completed avalidated online questionnaire anonymously and voluntarily. The questionnaire consisted of five groups of questions: general information, knowledge, behavior in practice, attitude toward genetic testing, and additional education in medical genetics. The median score for overall knowledge of medical genetics was 70.2% among obstetrician-gynecologists, 80.5% among pediatricians, and 76.7% among neurologists (P < 0.001, lowest median in obstetrician-gynecologists). When asked about their behavior in daily practice, around 90% of respondents admitted the possibility of not recognizing patients with genetic disorders, which is why more than 90% emphasized the need for additional education in medical genetics. In addition, the respondents showed apositive attitude toward genetic testing, but they did not feel educated enough to interpret the results of genetic testing. The results highlight the need for further genetic education of non-genetic health professionals, which would lead to greater confidence and ability to recognize patients with genetic disorders, select the appropriate genetic testing method and achieve more efficient communication with patients.

"It wasn't just for me": Motivations and implications of genetic testing for women at a low risk of hereditary breast and ovarian cancer syndrome.

Genetic testing for hereditary breast and ovarian cancer (HBOC) due to pathogenic variants in BRCA1 or BRCA2 is why most women present to familial cancer centers. Despite being assessed as low risk for HBOC, many women proceed with genetic testing. This study explored the genetic testing experiences of unaffected women at low risk of HBOC to clarify what motivates these women to have testing, and what are the implications of the results. A qualitative approach was taken. Participants included women who had genetic testing for HBOC from 2016-2018 at the Parkville Familial Cancer Centre in Melbourne, Australia. In-depth, semi-structured interviews were conducted, and thematic analysis was undertaken on transcripts; transcripts were coded, codes were organized into a hierarchical system of categories/subcategories, and key themes were identified. Analysis of 19 transcripts identified five themes: family underpinned all motivators for HBOC genetic testing; health professionals were influential throughout the process; participants were planning for a positive result; results influenced screening-anxiety and frequency; and negative results gave participants relief in many different ways. The three participants with positive results reported feeling shocked at the results and empowered giving this information to family members. Women at low HBOC risk may be motivated to seek genetic testing, and access to this is increasingly offered through non-genetic health professionals. Professionals can support clients through genetic testing by recognizing familial experiences, providing accurate information, addressing risk perceptions, and understanding cancer anxiety felt by many women.

Who we are, what we do, and how we add value: The role of the genetic counseling 'philosophy of practice' statement in a changing time.

As genetics and genomics are integrated into health care and non-genetic health professionals deliver aspects of genetic counseling, it is increasingly important for genetic counselors to be able to define who we are, what we do, and how we add value to client interactions, both on an individual and professional basis. In this paper, we argue that to understand ourselves as individual practitioners and as a profession, we each need to reflect on, write, and constantly review our own philosophy of practice. A philosophy of practice is a dynamic, personal, and reflective statement or narrative that captures the core ideas, values, and beliefs of the individual about their chosen profession, including concrete examples of what this involves in practice. Here, we consider the nature, purpose, and relevance of a philosophy of genetic counseling practice, drawing on examples from professions such as teaching and nursing, where the exercise of writing a philosophy of practice is more established. We demonstrate how and why we have introduced writing a philosophy of practice into our Master of Genetic Counseling program at University of Technology Sydney and consider the possibilities for introducing such practice into professional registration or certification processes. Finally, we offer our own philosophy of genetic counseling practice as an example. As the roles and scope of practice for genetic counselors expand and diversify, it is increasingly important to understand, own, and retain our core values and principles as individual practitioners and as a profession. Ensuring client-centered practice remains at the heart of genetic health care is vital. We encourage all genetic counselors to write, publish, and share their philosophy of practice, adding to our collective professional identity in this time of change and opportunity.

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

ObjectivesGenome sequencing is poised to be incorporated into clinical care for diagnoses of rare diseases and some cancers in many parts of the world. Healthcare professionals are key stakeholders in...

Information exchange between patients with Lynch syndrome and their genetic and non-genetic health professionals: whose responsibility?

Individuals at high risk for Lynch syndrome (LS) should be offered genetic counselling, since preventive options are available. However, uptake of genetic services and follow-up care are currently suboptimal, possibly caused by inadequate exchange of information. Therefore, this qualitative study aims to gain insight in the process of information exchange between patients diagnosed with LS and their non-genetic (i.e., general practitioner, gastroenterologist, gynaecologist) and genetic (i.e., clinical geneticist or genetic counsellor) health professionals concerning referral for genetic counselling and follow-up care. Participants comprised 13 patients diagnosed with LS (8 index patients and 5 of their affected relatives) and 24 health professionals (6 general practitioners, 8 gastroenterologists, 6 gynaecologists and 4 genetic health professionals). Analysis of the interview transcripts was performed in parallel and again after the interviews, following guidelines for qualitative research and using MAXQDA software. The main finding is that patients may ‘get lost’ between health professionals who lack a clear overview of their own and each other’s role and responsibilities in the referral and follow-up care for patients with possible LS. Education of non-genetic health professionals and optimisation of communication between health professionals might help to enable more timely diagnosis of LS and allow patients to address their doubts and questions to the most appropriate healthcare professional.

An E-Learning Module to Improve Nongenetic Health Professionals' Assessment of Colorectal Cancer Genetic Risk: Feasibility Study.

BackgroundNongenetic health providers may lack the relevant knowledge, experience, and communication skills to adequately detect familial colorectal cancer (CRC), despite a positive attitude toward the assessment of history of cancer in a family. Specific training may enable them to more optimally refer patients to genetic counseling.ObjectiveThe aim of this study was to develop an e-learning module for gastroenterologists and surgeons (in training) aimed at improving attitudes, knowledge, and comprehension of communication skills, and to assess the feasibility of the e-learning module for continued medical education of these specialists.MethodsA focus group helped to inform the development of a training framework. The e-learning module was then developed, followed by a feasibility test among a group of surgeons-in-training (3rd- and 4th-year residents) and then among gastroenterologists, using pre- and posttest questionnaires.ResultsA total of 124 surgeons-in-training and 14 gastroenterologists participated. The e-learning was positively received (7.5 on a scale of 1 to 10). Between pre- and posttest, attitude increased significantly on 6 out of the 10 items. Mean test score showed that knowledge and comprehension of communication skills improved significantly from 49% to 72% correct at pretest to 67% to 87% correct at posttest.ConclusionsThis study shows the feasibility of a problem-based e-learning module to help surgeons-in-training and gastroenterologists in recognizing a hereditary predisposition in patients with CRC. The e-learning led to improvements in attitude toward the assessment of cancer family history, knowledge on criteria for referral to genetic counseling for CRC, and comprehension of communication skills.

Medical genetics and genomics education: how do we define success? Where do we focus our resources?

Over the last 20 years, substantial financial and human resources have been committed to the education of nongenetic health professionals in medical genetics and genomics. Talwar and colleagues provide a comprehensive review of 44 peer-reviewed studies that report outcomes of the participants’ genetics and genomics practice with patients.1 Their work critically summarizes the measureable outcomes of these broad educational efforts to many different sectors of nongenetics health professionals, including specialists and those in primary care.

Genetics/genomics education for nongenetic health professionals: a systematic literature review

The completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals. Five electronic databases were searched from January 1990 to June 2016. Forty-four studies met our inclusion criteria. There was a growing publication trend. Program participants were mainly physicians and nurses. The curricula, which were most commonly provided face to face, included basic genetics; applied genetics/genomics; ethical, legal, and social implications of genetics/genomics; and/or genomic competencies/recommendations in particular professional fields. Only one-third of the curricula were theory-based. The majority of studies adopted a pre-/post-test design and lacked follow-up data collection. Nearly all studies reported participants' improvements in one or more of the following areas: knowledge, attitudes, skills, intention, self-efficacy, comfort level, and practice. However, most studies did not report participants' age, ethnicity, years of clinical practice, data validity, and data reliability. Many genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016.

Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer.

Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to gain insight in their perceptions, attitudes and knowledge. Two publically accessible databases were used to invite NGHPs providing cancer genetic services to complete a questionnaire. The survey assessed: sociodemographic attributes, experience in ordering hereditary cancer genetic testing, attitude, knowledge, perception of communication skills (e.g. information giving, decision-making) and educational needs. Of all respondents (N = 49, response rate 11 %), most have a positive view of their own information giving (mean = 53.91, range 13–65) and decision making skills (64–77 % depending on topic). NGHPs feel responsible for enabling disease and treatment related behavior (89–91 %). However, 20–30 % reported difficulties managing patients’ emotions and did not see management of long-term emotions as their responsibility. Correct answers on knowledge questions ranged between 41 and 96 %. Higher knowledge was associated with more confidence in NGHPs’ own communication skills (rs = .33, p = 0.03). Although NGHPs have a positive view of their communication skills, they perceive more difficulties managing emotions. The association between less confidence in communication skills and lower knowledge level suggests awareness of knowledge gaps affects confidence. NGHPs might benefit from education about managing client emotions. Further research using observation of actual counselling consultations is needed to investigate the skills of this specific group of providers.

Do Health Professionals Need Additional Competencies for Stratified Cancer Prevention Based on Genetic Risk Profiling?

There is growing evidence that inclusion of genetic information about known common susceptibility variants may enable population risk-stratification and personalized prevention for common diseases including cancer. This would require the inclusion of genetic testing as an integral part of individual risk assessment of an asymptomatic individual. Front line health professionals would be expected to interact with and assist asymptomatic individuals through the risk stratification process. In that case, additional knowledge and skills may be needed. Current guidelines and frameworks for genetic competencies of non-specialist health professionals place an emphasis on rare inherited genetic diseases. For common diseases, health professionals do use risk assessment tools but such tools currently do not assess genetic susceptibility of individuals. In this article, we compare the skills and knowledge needed by non-genetic health professionals, if risk-stratified prevention is implemented, with existing competence recommendations from the UK, USA and Europe, in order to assess the gaps in current competences. We found that health professionals would benefit from understanding the contribution of common genetic variations in disease risk, the rationale for a risk-stratified prevention pathway, and the implications of using genomic information in risk-assessment and risk management of asymptomatic individuals for common disease prevention.

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.

Genome-wide sequencing in a research setting has the potential to reveal health-related information of personal or clinical utility for the study participant. There is increasing pressure to return research findings to participants that may not be related to the project aims, particularly when these could be used to prevent disease. Such secondary, unsolicited or 'incidental findings' (IFs) may be discovered unintentionally when interpreting sequence data, or as the result of a deliberate opportunistic screen. This cross-sectional, web-based survey investigated attitudes of 6944 individuals from 75 countries towards returning IFs from genome research. Participants included four relevant stakeholder groups: 4961 members of the public, 533 genetic health professionals, 843 non-genetic health professionals and 607 genomic researchers who were invited via traditional media, social media and professional e-mail list-serve. Treatability and perceived utility of incidental results were deemed important with 98% of stakeholders personally interested in learning about preventable life-threatening conditions. Although there was a generic interest in receiving genomic information, stakeholders did not expect researchers to opportunistically screen for IFs in a research setting. On many items, genetic health professionals had significantly more conservative views compared with other stakeholders. This finding demonstrates a disconnect between the views of those handling the findings of research and those participating in research. Exploring, evaluating and ultimately addressing this disconnect should form a priority for researchers and clinicians alike. This social sciences study offers the largest dataset, published to date, of attitudes towards issues surrounding the return of IFs from sequencing research.

Finding people who will tell you their thoughts on genomics—recruitment strategies for social sciences research

This paper offers a description of how social media, traditional media and direct invitation were used as tools for the recruitment of 6,944 research participants for a social sciences study on genomics. The remit was to gather the views of various stakeholders towards sharing incidental findings from whole genome studies. This involved recruiting members of the public, genetic health professionals, genomic researchers and non-genetic health professionals. A novel survey was designed that contained ten integrated films; this was made available online and open for completion by anyone worldwide. The recruitment methods are described together with the convenience and snowballing sampling framework. The most successful strategy involved the utilisation of social media; Facebook, Blogging, Twitter, LinkedIn and Google Ads led to the ascertainment of over 75 % of the final sample. We conclude that the strategies used were successful in recruiting in eclectic mix of appropriate participants. Design of the survey and results from the study are presented separately.

Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities

Genetic testing has its greatest public health value when it identifies individuals who will benefit from specific interventions based upon their risk. This paradigm is the basis for the use of predictive tests, such as BRCA1/BRCA2 testing which has become part of clinical practice for more than a decade. Currently predictive BRCA1/BRCA2 testing is offered to women using low, moderate and high risk based upon family history as cut-off levels. Non-genetic health professionals such as general practitioners (GPs) and breast surgeons (BS) are seen as gatekeepers to manage demand and/or facilitate access to appropriate services for high-risk patients. Data about current practices are lacking. The paper presents data on the current practice of GPs' and BS' cancer risk assessment, referral practices and preferred practice responsibilities for women at risk for familial breast cancer in France, Germany, the Netherlands and the UK derived by a self-administered questionnaire send to a representative sample of GPs and BS in the four countries. One thousand one hundred ninety-seven GPs and 1,223 BS completed the questionnaire. Both GPs and BS reported that they are consulted by a considerable number of patients presenting with concerns about a family history of cancer. Both commonalities and striking differences could be observed between GPs and BS from the four participating countries. GPs from France and Germany reported significantly higher proportions taking a family history of cancer including the extended family than GPs from the Netherlands and the UK. Most GPs from France, Germany and the Netherlands stated their willingness for providing risk assessment for an unaffected (high-risk) woman with a family history of breast cancer and the vast majority of BS from all four countries reported that they themselves would provide risk assessment for an unaffected (high-risk) woman with a family history of breast cancer. However, a substantial number of both GPs and BS would not have taken an appropriate family history for their patient failing to take into account the paternal side of the family. GPs from Germany reported a significantly lower readiness to refer a patient with a family history of a BRCA1 mutation for specialist genetic counselling when compared to the GPs from the other countries. GPs and BS from France, Germany and the Netherlands significantly less often assigned practice responsibilities to a genetic specialist as compared to the participating GPs and BS from the UK. The outcome of the study confirms the need for capability building in genetics for non-genetic health professionals. Using genetic risk assessment tools without a full understanding could result in missed opportunities for cancer prevention and harm patients. In order to provide best possible services for high-risk patients presenting with cancer concerns, close collaboration with clinical geneticists should become routine part of mainstream medical practice.

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. Evidence from the UK, France and Germany indicates that genetics professionals are influencing the genetics content of medical curricula. In post-graduate training, some specialist regulators have adopted specific genetics education requirements, but many programmes lack any explicit genetics. We show that within each country, a sometimes confusing plethora of organisations has responsibility for setting, assessing and delivering medical and midwifery education.

Genetic education and nongenetic health professionals: Educational providers and curricula in Europe

PurposeAdvances in and diffusion of genetic technology mean that nongeneticist health professionals have an increasing need to develop and maintain genetic competencies. This has been recognized by patient support groups and the European Commission. As the first phase of the GenEd (Genetic Education for Nongenetic Health Professionals) project, we investigated health professional education at undergraduate, postgraduate, and continuing levels in terms of genetic content and delivery. MethodsInformation was collected in the five GenEd partner countries (France, Germany, Netherlands, Sweden, and the UK) by reviewing published curricula and web sites and by directly contacting educational and regulatory organizations. Information was also requested from a further six South and East European collaborators (Greece, Hungary, Italy, Lithuania, Poland, and Spain). ResultsHealth professional education and training differed in structure with wide variation in the content and duration of genetic education provided. France and Germany have national undergraduate medical curricula but with minimal overt genetic content, mainly confined to basic science courses. In Sweden, Netherlands, and the UK, the content is largely at the discretion of individual universities. Evidence from the UK, France, and Germany indicates that genetic professionals are influencing the genetic content of medical curricula. In postgraduate training, some specialist regulators have adopted specific genetic educational requirements, but many programs lack any explicit genetics. Within each country many organizations have responsibility for setting, assessing, and delivering medical and midwifery education. ConclusionsDue to the multiplicity of organizations involved in the provision of genetic education, changing professional education is likely to be challenging. However, it may be that development of a multiprofessional consensus across Europe is achievable. The strategy adopted by the US National Coalition for Health Professional Education in Genetics may be helpful.