An European overview of genetic counselling supervision provision.

Genetic testing is becoming more commonplace in general and specialist health care, and should always be accompanied by genetic counselling, according to legislation in many European countries and recommendations by professional bodies. Personal and professional competence is necessary to provide safe and effective genetic counselling. Clinical and counselling supervision of genetics healthcare practitioners plays a key role in quality assurance, providing a safe environment not only for patients but for professionals too. However, in many European countries, genetic counsellors are still an emerging professional group and counselling supervision is not routinely offered and there are no enough evidences on the impact of these insufficiencies. This study aimed to explore the current status of genetic counselling supervision provision across Europe and to ascertain factors that might be relevant for the successful implementation of counselling supervision. A total of 100 practitioners responded to an online survey; respondents were from 18 countries, with the majority working in France (27%) and Spain (17%). Only 34 participants reported having access to genetic counselling supervision. Country of origin, the existence of a regulation system and years of experience were factors identified as relevant, influencing access and characteristics of counselling supervision. Although there is a growing number of genetic counsellors trained at European level, just a few countries have implemented and required as mandatory the access to genetic counselling supervision. Nevertheless, this is essential to ensure a safe and effective genetic counselling and should be regulated at the European genetic healthcare services.

Characterization of Functional Materials Using Coherence Scanning Interferometry and Environmental Chambers.

Functional materials are challenging to characterize because of the presence of small structures and inhomogeneous materials. If interference microscopy was initially developed for use for the optical profilometry of homogeneous, static surfaces, it has since been considerably improved in its capacity to measure a greater variety of samples and parameters. This review presents our own contributions to extending the usefulness of interference microscopy. For example, 4D microscopy allows real-time topographic measurement of moving or changing surfaces. High-resolution tomography can be used to characterize transparent layers; local spectroscopy allows the measurement of local optical properties; and glass microspheres improve the lateral resolution of measurements. Environmental chambers have been particularly useful in three specific applications. The first one controls the pressure, temperature, and humidity for measuring the mechanical properties of ultrathin polymer films; the second controls automatically the deposition of microdroplets for measuring the drying properties of polymers; and the third one employs an immersion system for studying changes in colloidal layers immersed in water in the presence of pollutants. The results of each system and technique demonstrate that interference microscopy can be used for more fully characterizing the small structures and inhomogeneous materials typically found in functional materials.

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

In oncogenetics, some patients could be considered as "extreme phenotypes", such as those with very early onset presentation or multiple primary malignancies, unusually high numbers of cancers of the same spectrum or rare cancer types in the same parental branch. For these cases, a genetic predisposition is very likely, but classical candidate gene panel analyses often and frustratingly remains negative. In the framework of the EX2TRICAN project, exploring unresolved extreme cancer phenotypes, we applied exome sequencing on rare familial cases with male breast cancer, identifying a novel pathogenic variant of ATR (p.Leu1808*). ATR has already been suspected as being a predisposing gene to breast cancer in women. We next identified 3 additional ATR variants in a cohort of both male and female with early onset and familial breast cancers (c.7762-2A>C; c.2078+1G>A; c.1A>G). Further molecular and cellular investigations showed impacts on transcripts for variants affecting splicing sites and reduction of ATR expression and phosphorylation of the ATR substrate CHEK1. This work further demonstrates the interest of an extended genetic analysis such as exome sequencing to identify very rare variants that can play a role in cancer predisposition in extreme phenotype cancer cases unexplained by classical cancer gene panels testing.

The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe.

Genetics has begun to be considered a key medical discipline which can have an impact on everyday clinical practice. Therefore, it is necessary to understand what the most effective way is of caring for people affected by or at risk of genetic disorders. In this context, the team dealing with such patients has evolved with the emergence of the Genetic Counsellor figure. The profession of Genetic Counsellor appeared in Europe in 1980, but it is still a much-debated profession and not yet recognized in all European countries. The aim of this research is to investigate both how a team should be composed in the care of patients affected by or at risk of genetic disorders and what the role of the Genetic Counsellor should be-the field of action and the competences. The research has been carried out at the European level, submitting an online questionnaire to geneticists who, having the ultimate responsibility for the diagnosis and being in the field for the longest time, expressing their opinion, can identify strengths and potential areas for improvement in genetic care. 200 responses were collected from all over Europe. This led to awareness of the importance of the role of the counsellor within the medical genetics multidisciplinary team, and, above all, what the counsellor's skills and qualifications should be-for geneticists. Although this new profession has difficulties in being recognized in some countries, it seems clear that these highly competent professionals are essential for in-patient care and in the multidisciplinary team.

The Role of the European Society of Human Genetics in Delivering Genomic Education.

The European Society of Human Genetics (ESHG) was founded in 1967 as a professional organisation for members working in genetics in clinical practice, research and education. The Society seeks the integration of scientific research and its implementation into clinical practice and the education of specialists and the public in all areas of medical and human genetics. The Society works to do this through many approaches, including educational sessions at the annual conference; training courses in general and specialist areas of genetics; an online resource of educational materials (EuroGEMS); and a mentorship scheme. The ESHG Education Committee is implementing new approaches to expand the reach of its educational activities and portfolio. With changes in technology, appreciation of the utility of genomics in healthcare and the public's and patients' increased awareness of the role of genomics, this review will summarise how the ESHG is adapting to deliver innovative educational activity.

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.

If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.

Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland.

There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2 variant; NM_000059.3:c.771_775del. To do so, they opened the website www.arfgerd.is . Individuals who received positive results via the website were offered genetic counselling (GC) at Landspitali in Reykjavik. At the end of May 2019, over 46.000 (19% of adults of Icelandic origin) had registered at the website and 352 (0.77%) received text message informing them about their positive results. Of those, 195 (55%) contacted the GC unit. Additionally, 129 relatives asked for GC and confirmatory testing, a total of 324 individuals. Various information such as gender and age, prior knowledge of the variant and perceived emotional impact, was collected. Of the BRCA2 positive individuals from the website, 74 (38%) had prior knowledge of the pathogenic variant (PV) in the family. The majority initially stated worries, anxiety or other negative emotion but later in the process many communicated gratitude for the knowledge gained. Males represented 41% of counsellees as opposed to less than 30% in the regular hereditary breast and ovarian (HBOC) clinic. It appears that counselling in clinical settings was more reassuring for worried counsellees. In this article, we describe one-year experience of the GC service to those who received positive results via the website. This experience offers a unique opportunity to study the public response of a successful method of the return of genetic results from research.

Evaluation of the template letter regarding the disclosure of genetic information within the family in France.

The 2011 French Bioethics Law regarding disclosure of genetic information within families enables health professionals to notify any at-risk relatives directly, with the patient's consent, using a template letter. To assess the impact of this template letter in terms of understanding, personal feelings and intent to contact a health professional, we conducted a study interviewing patients, members of the public and genetic professionals. Although the main response to the letter was anxiety, this was associated with good understanding of the content and most individuals mentioned intention to contact a health professional.

The Global State of the Genetic Counseling Profession.

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.

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. We administered a web-based survey to genetic services in European countries to collect information about existing infrastructures and practices relevant to recontacting patients. The majority of the centres stated they had recontacted patients to update them about new significant information; however, there were no standardised practices or systems in place. There was also a multiplicity of understandings of the term 'recontacting', which respondents conflated with routine follow-up programmes, or even with post-test counselling. Participants thought that recontacting systems should be implemented to provide the best service to the patients and families. Nevertheless, many barriers to implementation were mentioned. These included: lack of resources and infrastructure, concerns about potential negative psychological consequences of recontacting, unclear operational definitions of recontacting, policies that prevent healthcare professionals from recontacting, and difficulties in locating patients after their last contact. These barriers are also intensified by the highly variable development (and establishment) of the specialties of medical genetics and genetic counselling across different European countries. Future recommendations about recontacting need to consider these barriers. It is also important to reach an 'operational definition' that can be useful in different countries.

Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe.

Clinical genetic services have progressed significantly the last few decades. This has led to the need for non-medical health-care professionals working as genetic counsellors in Europe and worldwide. However, there is no unified approach to genetic counsellors' role in health-care services in Europe, as in most countries the profession is still emerging and the educational backgrounds diverge noticeably, within and between countries. This qualitative study aims to describe the potential added value of genetic counsellors in clinical genetics teams and to explore their tasks and responsibilities in different European countries. A total of 143 participants providing genetic counselling in Europe at the time of the survey responded. The results show differences in activities of genetic counsellors, although there is a wide range of roles, which are similar. The ability to establish a quality relationship with consultands was frequently mentioned as one of the strengths of genetic counsellors, as well as a patient-centred approach. It is believed that genetic counsellors add a more holistic approach of psychosocial and familial dimensions of genetic concerns to the multidisciplinary teams. This study provides examples of successful integration of genetic counsellors in teams, as complementariness with medical geneticist became clear in several cases. Although the added value of genetic counsellors was manifested, professional recognition of genetic counsellors across Europe is still needed in order to support the quality of patients care and safety of practice.

The perceived impact of the European registration system for genetic counsellors and nurses.

The aim of the European Board of Medical Genetics has been to develop and promote academic and professional standards necessary in order to provide competent genetic counselling services. The aim of this study was to explore the impact of the European registration system for genetic nurses and counsellors from the perspectives of those professionals who have registered. Registration system was launched in 2013. A cross-sectional, online survey was used to explore the motivations and experiences of those applying for, and the effect of registration on their career. Fifty-five Genetic Nurses and Counsellors are registered till now, from them, thirty-three agreed to participate on this study. The main motivations for registering were for recognition of their work value and competence (30.3%); due to the absence of a registration system in their own country (15.2%) and the possibility of obtaining a European/international certification (27.3%), while 27.3% of respondents registered to support recognition of the genetic counselling profession. Some participants valued the registration process as an educational activity in its own right, while the majority indicated the greatest impact of the registration process was on their clinical practice. The results confirm that registrants value the opportunity to both confirm their own competence and advance the genetic counselling profession in Europe.

Genetic professionals' views on genetic counsellors: a French survey.

The genetic counselling profession was established in France in 2004. Eight years later, 122 genetic counsellors have graduated from the unique educational French program which awards the Professional Master Degree of Human Pathology, entitled "Master of Genetic Counselling and Predictive Medicine". As part of a global evaluation of this new profession by health genetic professionals, we undertook a national survey investigating various aspects such as employment, work responsibilities and integration. To our knowledge, this is the first study to investigate the views of genetic professionals on the genetic counsellors' role. Of 422 French professionals invited to take part in this study, 126 participated. The survey underlines that this profession is significantly recognized by physicians practicing within genetics departments. French genetic counsellors are allowed to manage consultations independently, without the necessary presence of a qualified medical geneticist but under his or her responsibility. Genetic counsellors participate in a wide range of consultations. They provide both information for relevant and for genetic testing and sometimes disclose the genetic test result to patient. Eventually, the role of genetic counsellors appears to be directly dependent from the relationship of trust between the two health professions.

[Multidisciplinary team meetings settings on the management of women at high risk of inherited breast cancer. A French study]. / Mise en place des modalités de réunions de concertation pluridisciplinaire pour la prise en charge des patientes prédisposées héréditairement au cancer du sein. Une étude française.

INTRODUCTION: In France, 126 centers for cancer genetics coordinate genetic testing and high-risk cancer surveillance for individuals and their families with hereditary cancer syndromes. Since 2012, the French National Cancer Institute (INCa) supports 17 projects to promote and manage the monitoring of individuals genetically predisposed to cancer. They were assigned 4 missions by INCa including expertise for difficult cases. METHODS: We initiated a national survey to assess how the oncogenetic clinics responded to the 4th mission for women at high risk of developing breast cancers. We sent the survey to all the French oncogeneticists. We aimed at evaluating the modalities and the extent of implementation of the Multidisciplinary team (MDT) meetings regarding the management of women who have genetically higher risks to develop breast cancer. RESULTS: Fourteen people from 12 administrative regions, who represent 10 of the 17 projects, answered the form. Eleven participants reported the submission of medical cases in Oncogenetics MDT meetings (79 %), 5 in senology MDT meetings (36 %), 5 in MDT meetings dedicated to patients at high risk for breast cancer (36 %) and 2 in network meetings (14 %). Some structures discuss medical cases through different MDT meetings. CONCLUSION: Although MDT meetings are valuable practices to optimize treatment or management options for patients, its settings might be subject to difficulties to federate the appropriate-number of participants as well as cost-effectiveness issues. This survey thus suggests the need of a standardized process of MDT meetings while taking account specificities of oncogenetics.

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. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms.

Prevalence and correlates of non-optimal secondary medical prevention in patients with stable coronary artery disease.

BACKGROUND: In patients with coronary artery disease (CAD), non-optimal use of evidence-based medications is associated with an increased risk of adverse outcome. AIMS: To assess the prevalence and correlates of non-optimal secondary medical prevention in patients with stable CAD. METHODS: We included 4184 consecutive outpatients with stable CAD. Treatment at inclusion was classified as optimal/non-optimal regarding the four major classes of secondary prevention drugs: antithrombotics; statins; angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs); and beta-blockers. For each treatment, the prescription was considered non-optimal if the drug was missing despite a class IA indication according to international guidelines. To assess the information globally, non-optimal secondary prevention was defined as at least one major treatment missing. RESULTS: The proportions of patients with non-optimal treatment were 0.7%, 7.8%, 12.9% and 10.3% for antithrombotics, statins, ACE inhibitors/ARBs and beta-blockers, respectively. Non-optimal secondary medical prevention was observed in 16.8% of cases. By multivariable analysis, the correlates of non-optimal secondary medical prevention were long time interval since last coronary event (P<0.0001), older age (P<0.0001), diabetes mellitus (P<0.0001), hypertension (P<0.0001), no history of myocardial infarction (P=0.001), no history of coronary revascularization (P=0.013) and low glomerular filtration rate (P=0.042). CONCLUSIONS: Although most patients with stable CAD are receiving evidence-based medications according to guidelines, there remain subgroups at higher risk of non-optimal treatment. In particular, it might be feasible to improve prevention by focusing on patients in whom a long time has elapsed since the last coronary event.

A study of the practice of individual genetic counsellors and genetic nurses in Europe.

Advances in genetics have meant that the genetic services are now accessed by increasing numbers of patients. One way of dealing with the pressure on services without jeopardising patient care is the inclusion of nonmedical genetic counsellors and genetic nurses in the genetic services team. However, a cohesive approach to the profession has been lacking in Europe, and an educational programme and registration system for European practitioners is required. The aim of this study was to ascertain the type of work undertaken by genetic nurses and counsellors in Europe and the context in which they practised. We used a cross-sectional survey design to collect data from 213 practitioners, either genetic nurses or genetic counsellors, from 18 European countries. Respondents completed the survey online, and data were analysed using descriptive statistics and cross-tabulations. The majority were involved in undertaking the initial contact with the patient (89.9 %) and explaining the genetic test to the patient (91.5 %), while 74 % ordered tests and 91.4 % obtained informed consent for such tests. Psychological support before and after genetic testing was provided by 80.2 % of respondents, and 82.1 % reported regularly managing cases autonomously. While the genetic counselling profession is barely established in some countries, counsellors are able to contribute substantially to patient care as part of the multi-disciplinary team. Further efforts to establish the profession at the European level through a registration process will enhance the confidence in this new group of allied health professionals.