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

9 Genetics has begun to be considered a key medical discipline which can have an impact on 10 everyday clinical practice. Therefore, it is necessary to understand what the most effective way is 11 of caring for people affected by or at risk of genetic disorders. In this context, the team dealing 12 with such patients has evolved with the emergence of the Genetic Counsellor figure. The 13 profession of Genetic Counsellor appeared in Europe in 1980, but it is still a much-debated 14 profession and not yet recognized in all European countries. The aim of this research is to 15 investigate both how a team should be composed in the care of patients affected by or at risk of 16 genetic disorders and what the role of the Genetic Counsellor should be – the field of action and 17 the competences. The research has been carried out at the European level, submitting an online 18 questionnaire to geneticists who, having the ultimate responsibility for the diagnosis and being 19 in the field for the longest time, expressing their opinion, can identify strengths and potential 20 areas for improvement in genetic care. 200 responses were collected from all over Europe. This 21 led to awareness of the importance of the role of the counsellor within the medical genetics 22 multidisciplinary team, and, above all, what the counsellor’s skills and qualifications should be – 23 for geneticists. Although this new profession has difficulties in being recognized in some 24 countries, it seems clear that these highly competent professionals are essential for in-patient care 25 and in the multidisciplinary team. 26


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The rapid genetic development of recent years has addressed the understanding and management 29 of common and rare diseases (Calzone et al. 2013). It became clear that almost all human diseases had 30 genetic components. Therefore, Genetics begun to be considered a key discipline with an impact on 31 everyday clinical practice (Calzone et al. 2013;Collins 2001). This has led to a growing need for 32 professionals to be able to provide appropriate information to patients and their families about the 33 disease and genetic testing, facilitating the decision-making process and supporting patients to adapt to 34 the disease (Cordier et al. 2016;Skirton et al. 2015). This raises the question of who is the best team to 35 care for patients in this new era. 36 The field of clinical genetics, which used to be solely responsibility of medical doctors, has evolved 37 into a multidisciplinary service where non-medical professionals are an integral part of the team 38 (Moldovan, et al. 2017). Nowadays, there are three principal professions involved in the team: medical 39 geneticists (MD), clinical laboratory geneticists and Genetic Counsellors (GCs). All these three profiles 40 are considered essential for providing care to patients. Medical geneticists are the key, longest-serving 41 professionals in the field involved in the diagnosis and clinical management of families with genetic 42 disorders. Their role is to assess, investigate and then diagnose genetic and hereditary medical conditions. 43 Secondly, laboratory geneticists, who have also been in the field for many years and are responsible for 44 Genetics (EBMG) is to develop and promote academic and professional standards required to ensure 75 the highest possible genetic counselling service (Paneque, et al. 2017

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The structure was quali-quantitative research; it was decided to carry out structured interviews of 95 medical geneticists (MD) in Europe by means of a questionnaire administered using the Qualtrics 96 platform XM. The data obtained were processed using the functionalities provided in Qualtrics and with 97 Excel and were analysed using descriptive analysis, T-test and ANOVA (Analysis of Variance). 98 Medical Geneticists working in European countries were contacted and asked for their willingness 99 to participate in the research by sending an email on 2 July 2021 including: 100 § The link to Qualtrics 101 § The Participation Information Sheet 102 In subsequent reminders (beginning and end of September 2021) it was asked to those geneticists 103 to extend the study by sending the documentation to their medical geneticists' colleagues. In addition, 104 the social network LinkedIn was used to sponsor the questionnaire (the same documentation was also 105 posted on this platform). For this reason, it is not possible to indicate the precise number of subjects 106 who were asked to participate. The deadline for the compilation of the survey was the 31 st of January 107

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The questionnaire was structured in five sections. In the next three sections it was asked to express own perception about: 116 3. Counselling procedures. Composed of two questions (Q9 and Q10). The first had 25 117 statements which were asked to be rated in terms of importance on a Likert scale of 1 to 7 118 (1: not important at all; 7: essential). To provide an application example, a second question, 119 regarding the opinion on the three main procedures to be carried out in the preconception 120 context was inserted. 121 4. Team composition. Section consisting of two questions (Q11 and Q12). In this section it 122 was asked to express on a Likert scale from 1 to 7 (1: not important at all; 7: essential) the 123 importance of the presence of certain professionals within the genetic counselling team. 124 The topic of PGT was specifically addressed. The respondents were mainly female subjects. More than half were aged 40 or under. 70% of the 140 respondents worked in the public sector. More than half of the respondents had a work experience of 10 141 years or less. The predominant subspecialty in the sample is pediatrics (the participants could choose up 142 to three options). In the option "other" some participants wrote their specialized field, the most frequent 143 being ophthalmology and rare diseases. (Supplementary Table 1). 144 Most responses were from Spain, Italy, France, Belgium and Germany (Error! Reference source not 145 found.). No responses were obtained from Croatia, Estonia, Latvia, Malta, Slovakia, Slovenia, Iceland 146 and Bulgaria, which is why they do not appear in the graph. 147 Twelve out of 200 (6%) participants were not aware of the existence of GCs and 62 participants in 148 the sample (31%) have never collaborated with a GC, compared to 138 who collaborated or have 149 collaborated with a GC. A negative answer to this latter question prevented the completion of the last 150 Counselling procedures 156 All activities were important (Error! Reference source not found.), with a minimum average 157 score for the "sample handling" item of 5.04. The sample identified three main activities during genetic 158 counselling, "ensure patients' understanding of the given genetic information", "collect information for 159 genetic investigation" and "Draw Pedigree". 160 to test whether the importance attributed to the different aspects examined (Q9_1 -Q9_25) was different 162 among the groups who stated that they have/have never collaborated or worked with a GC (answers at 163 Q8). Participants were classified into two groups: No collaboration or work with a GC (n=62) and those 164 who stated that they had collaborated or worked with a GC (n=138). Statistical significance emerged in 165 the following activities. (Supplementary Table 2). 166 "Inform the patient about familial risk (without known mutation)". There was a significant 167 difference (p= 0,014) in the importance given to that activity in the genetic counselling session between 168 those who stated that they had (6.14 ± 1.15) or had not (5.66 ± 1.46) ever worked or collaborated with 169 a GC. 170 "Inform the patient about pre-symptomatic testing". There was a significant difference (p= 0.003) 171 in the importance given to that activity in the genetic counselling session between those who stated that 172 they had (6.40 ± 1.04) or had not (5.83 ± 1.59) ever worked or collaborated with a GC. 173 "Inform the patient about genetic variants of unclear significance". There was a significant 174 difference (p= 0.048) in the importance given to that activity "in the genetic counselling session between 175 those who stated that they had (5.59 ± 1.57) or had not (5.08 ± 1.85) ever worked or collaborated with 176 a GC. 177 From the question regarding the most important activities in the PGT process, which is not a 178 compulsory field, 322 responses were obtained. Each participant could indicate up to three preferences. 179 The two main activities mentioned were "Inform about reproductive options" (indicated by 17% of 180 respondents) and "Guide the patient in making the right decision for themselves" (11%). Two activities 181 follow with a score of 9.97%, "Ensure the patients' understanding of the given genetic information" 182 (7.5%), and "Give the patient clinical and medical information" (5.6%). In the category "other" all items 183 individually have a percentage of less than 5%, including, among the main ones, "Collect information for  Table 3). 196 There was a significant difference (p= 0.011) in the importance given to the figure of the GC in 197 the multidisciplinary team, between those who stated that they had (6.47 ± 0.9) or had not (6.06 ± 1.3) 198 ever worked or collaborated with a GC. 199 A significant difference (p= 0.009) was also observed between these two groups for the 200 administrative professional (5,10 ± 1,75 and 4,38 ± 1,87 respectively). 201 From the question regarding the most important profession in the PGT process, which was not a 202 compulsory field, 334 responses were obtained. Each participant could indicate up to three preferences. 203 The main figures in the PGT process are the medical geneticist (32%), followed by the GC (25%

The mean and the standard deviation are reported on the
It can be seen (Error! Reference source not found.) that the respondents (138 people) identified 207 in particular five important tasks of the profession of the GC with an average Likert score greater than 208 6: "Draw pedigree", "ensure the patients' understanding of the given genetic information", "help patients 209 express their own questions", "collect information for genetic investigation" and "inform the patient 210 about pre-symptomatic testing". The least characteristic activity is "Make a diagnosis" with a mean of 211   Table 4 Distribution of the different fields in which the figure of the Genetic Counsellor is relevant (mean, SD).

Figure 2 Educational background required to access training for Genetic
Counsellors.

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A critical analysis of the results would seem to imply that all respondents consider that the team 231 should be multidisciplinary as all the professional profiles surveyed scored very high, reflecting their 232 importance in the team, indeed the importance of the multidisciplinary team is referred to in many such support has emerged it has been successfully incorporated leading to improved care. It would appear 240 from our survey that such support from the medical geneticist community does exist. Indeed, our data 241 show good awareness on the part of the medical geneticists although there is not always a working 242 collaboration with a counsellor; this finding is not in line with some articles reporting that the non-243 involvement of the GC within the team was due to a lack of support and acceptance on the part of the 244 doctors (Schwaninger et al. 2021). The question therefore arises as to what the problem is behind the 245 non-recognition in some regions. One of the limitations of this study is that only those with a higher 246 regard for GCs might have answered. 247 Our results show that close collaboration with the GC increases awareness of their value and the 248 need to collaborate even more, but it appears that there is already greater awareness and knowledge than 249 a few years ago. On average, the value of importance assigned to the GC is higher in the sample that closely related to the doctor -such as making a diagnosis -result from our analysis to be less important 280 than those mentioned above. It follows from this that the two specialists -the doctor and the GC -have 281 distinct and complementary fields of action. To be precise, out of the top 10 actions ranked by 282 importance, 9 coincide with the top 10 ranked by GC competencies. There is a small difference on the 283 action "Give test results to the patients" ranked 10 for importance and 12 for correlation with the 284 activities to be carried out by the GC. There has always been a debate on this issue, but it would seem 285 that this action can be responsibility of the GC although not in the top 10. Moreover, in the authors' 286 opinion, to maintain the important relationship established between the patient and the GC, it is 287 important that if the counsellor has carried out the first counselling, it is always he/she who gives the 288 results. What seems to emerge is the autonomy of the counsellor, who can perform all the main actions 289 of a counselling session and only interface with the geneticist if he needs to -and where his expertise 290 cannot reach. The third hypothesis H3: The GC is not recognized as being able to carry out all the actions that 291 characterize counselling sessions is not accepted. 292 An analysis was then carried out on these 25 items to test difference in the answers between those 293 who stated working with a GC and those who had never worked with one. In three of these actions, we 294 saw difference. The first hypothesis H1: Assigning a different value to actions depending on whether collaboration 295 with the GC is declared is confirmed. These were "Inform the patient about pre-symptomatic testing", 296 "Inform the patient about genetic variants of unclear significance" and "Inform the patient about familial 297 risk (without known mutation)". It has been previously suggested (Pestoff et al. 2018) that situations of 298 this kind should mostly be a medical responsibility, because of their complexity. Our analysis shows, 299 however, that such situations can be the responsibility of the GC. The fact that the group that 300 collaborated with the GC gives on average more importance to the three actions make us reflect on the 301 strengths of the counsellor figure which seems to be recognized, reinforced, and positively valued by the 302 doctor. 303 As our sample came from most of the European countries, we thought to see if there was a 304 correlation between the percentage of participants who knew about the GC and who work with it and their place of origin. No statistical significance was found (the hypothesis H4.1 and H4.2 are not accepted) 306 and this, in our opinion, can be explained in two ways, either there is no correlation or the data from 307 some parts of Europe are too few to draw such a conclusion. It would be important to grow the study 308 to test whether such differences exist. However, the research showed that the figure of the GC is well 309 known and that more than half of the respondents collaborate or have collaborated with a GC. This 310 collaboration also emerged in countries where GCs are not actually recognized. The GC's fields of action 311 therefore exist. According to the authors, it is important to harmonize academic requirements and 312 training and therefore it was asked which university background is the most appropriate according to the 313 doctors, also because there is still an ongoing debate on this subject. The three bachelor's degrees that 314 were found to be most appropriate were, in order, Biology, Nursing and Midwifery. The importance of 315 both theoretical and more clinical and practical knowledge would seem to emerge. A suggestion from 316 our side is to unify, on a European level, the degree classes that can access the specialist training to 317 become a GC. 318

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No funding was needed, and the authors declare no conflict of interest. 320

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For all participants involved in the present study, written informed consent was obtained from the 322 subjects themselves. All methods were performed in accordance with the Ethical Principles for Medical 323 Research involving Human Subject of the Helsinki Declaration. 324