Received: 21 January 2019 | Revised: 8 May 2019 | Accepted: 17 May 2019 DOI: 10.1002/mgg3.830 ORIGINAL ARTICLE Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users Lourdes Martorell1,2 | Annabel Sanfeliu1 | Ana Blázquez3 | Elia Lojo1 | Maria José Cortés 1,2 | Joan de Pablo 4 | Elisabet Vilella 1,2 1 Hospital Universitari Institut Pere Mata, IISPV, Universitat Rovira i Virgili, Reus, Abstract Spain Background: The heritability of several psychiatric disorders is high, and specific 2 Centro de Investigación Biomédica en Red at‐risk variants have been identified. Therefore, genetic counseling and genetic test- en Salud Mental (CIBERSAM), Madrid, ing can be prescribed to some psychiatric patients, but these services are not stand- Spain 3 ardized for most of the population. The aims of the study were to gather opinions Department of Child and Adolescent Psychiatry and Psychology, Clinic Institute from mental health professionals and users regarding (a) the genetics of psychiatric of Neurosciences, Hospital Clínic de disorders and (b) the usefulness of a genetic counseling unit in psychiatry. Barcelona, Barcelona, Spain 4 Methods: The survey was conducted in the province of Tarragona (Spain), and we Germans Trias i Pujol Hospital. UAB, Badalona, Spain analyzed 152 valid questionnaires from professionals and 959 from users. Results: Sixty‐one percent of professionals strongly believed that psychiatric disor- Correspondence ders have a genetic basis, and 59% rated a genetic counseling unit in psychiatry as Elisabet Vilella, Hospital Universitari Institut Pere Mata, Ctra. de l’Institut Pere very or extremely useful. However, only a few professionals reported that patients Mata, s/n, 43206 Reus, Spain. asked them about the genetics of their diseases (12%) or the possibility of transmit- Email: vilellae@peremata.com ting the disease to offspring (19%). Forty‐seven percent of users strongly believed that psychiatric disorders have a genetic basis, 30% responded that they talked with their families about the genetics of their diseases, and 43% were worried about trans- mitting the disease to offspring; however, only 14% reported that their psychiatrist had talked to them about this topic. Remarkably, 80% of users would consider a genetic counseling unit very or extremely useful. Conclusions: The present study showed that mental health professionals were more aware of the genetic basis of psychiatric disorders than users, and both considered the implementation of a genetic counseling service very useful. KEYWORDS genetic counseling, genetics, patients, professionals, psychiatry 1 | IN T RO D U C T ION in the range of 0.30–0.80; 0.35 for major depressive disor- der (MDD) (Otte et al., 2016), 0.75 for bipolar disorder (BD) Currently, a substantial amount of evidence confirms the (Sullivan, Daly, & O’Donovan, 2012), 0.40 for obsessive importance of genetic contributions to mental illnesses. compulsive disorder (OCD) (Pauls, Abramovitch, Rauch, & Heritability estimates for almost all psychiatric disorders are Geller, 2014), 0.30–0.80 for anorexia nervosa (AN) (Shih & This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Mol Genet Genomic Med. 2019;7:e830.  wileyonlinelibrary.com/journal/mgg3 | 1 of 11 https://doi.org/10.1002/mgg3.830 2 of 11 |    MARTORELL et al. Woodside, 2016), 0.70–0.80 for attention‐deficit hyperac- of their disease, and increase empowerment and positive tivity disorder (ADHD) (Voeller, 2004), and 0.80 for both self‐identity (Costain & Bassett, 2012; Hippman et al., 2016; autism spectrum disorder (ASD) (Colvert et al., 2015) and Inglis, Koehn, Mcgillivray, Stewart, & Austin, 2015). schizophrenia (SCH) (Kahn et al., 2015). The rest of the vari- Knowledge of the genetics of psychiatric diseases may ability is known to be caused by environmental factors, such allow genetic counseling for symptomatic and nonsymptom- as stressful life situations, brain damage, cannabis abuse, and atic patients; however, genetic counseling is currently not childhood maltreatment (Schmitt, Malchow, Hasan, & Falkai, broadly offered to psychiatric patients and families in most 2014), and interactions between genes and the environment developed countries (Moldovan et al., 2017). The genetic con- through epigenetic mechanisms. In fact, the presence of a tribution to psychiatric disorders is not more complex or less psychiatric illness in a patient's biological relatives is a strong significant than the genetic contribution to other complex dis- risk factor for many psychiatric disorders. Moreover, some eases for which genetic counseling is traditionally offered. For genetic factors are shared between distinct psychiatric diag- example, at least in Europe and specifically in Spain, the pub- noses, suggesting a common genetic background (Smoller et lic health system offers genetic testing and genetic counseling al., 2013; Torres, Barbosa, & Maciel, 2016). for primary dyslipidemia (Wiegman et al., 2015), a complex Both single nucleotide polymorphisms (SNPs) and copy disease estimated to affect 2%–3% of the adult population. number variants (CNVs) are implicated in the development However, in Spain and many other countries, these services of psychiatric disorders. Genome‐wide association studies are not offered for severe psychiatric diseases that affect a have identified hundreds of SNPs with very small effects that similar range of people and impose a serious burden on pa- confer a risk for a wide range of psychiatric disorders (Cross‐ tients and society, at least in a generalized manner. The main Disorder Group of the Psychiatric Genomics Consortium, reason for not offering genetic counseling regarding psychi- Ripke, Neale, Faraone, & Purcell, 2013). Regarding CNVs, atric disorders in Catalonia is the lack of specific regulation. compelling data suggest that a small number of recurrent de- Several other factors may be involved in this situation. For letions and duplications increase the risk of several neuro- example, only approximately 20% of psychiatrists consider developmental disorders, including ASD, SCH, BD, seizure themselves competent to provide genetic information to pa- disorder, and intellectual disability (ID) (Jiang et al., 2014; tients (Finn et al., 2005; Venugopal, Ranjith, & Issac, 2000), Kirov et al., 2014). Interestingly, approximately 65% of the although most psychiatrists feel that they should provide such recurrent CNVs are de novo variants (Rees, Moskvina, Owen, information (Jenkins & Arribas‐Ayllon, 2016). Psychiatrists O’Donovan, & Kirov, 2011), indicating that they are not in- and other mental health professionals report the need to im- herited. Of these, 22q11.2del is the most prevalent CNV as- prove their knowledge and skills in psychiatric genetics and sociated with SCH and ASD. Recently, both 22q11.2 deletion even report that a genetic counseling service that accounts for and duplication have been associated with an increased risk the complexity of psychiatric conditions (uncertainty of psy- of any psychiatric disorder and with a highly increased risk of chiatric diagnoses, patient engagement, and a limited capacity ID in a Danish nationwide, register‐based study (Hoeffding et to understand) is necessary and effective (Jenkins & Arribas‐ al., 2017). In addition to SNPs and CNVs, rare coding vari- Ayllon, 2016; Moldovan et al., 2017). On the other hand, no ants (RCVs), which have an allele frequency <1:1,000 and valid, high‐certainty diagnostic psychiatric genetic tests are affect a single or a few nucleotides, have been demonstrated currently available for common complex psychiatric disorders. to exert considerable effects on the risk for psychiatric disor- In this sense, psychiatric genetic counseling and psychiatric ders (O’Donovan & Owen, 2016). testing are considered emerging disciplines in Europe, and ef- Genetic counseling is the process of advising individuals forts to develop a framework to facilitate the implementation and families affected by or at risk of genetic disorders to help of both disciplines into routine clinical care are currently un- them understand and adapt to the medical, psychological, and derway (https​://www.cost.eu/actio​ns/CA17130). familial implications of genetic contributions to disease (Resta In this context, we developed two questionnaires, one di- et al., 2006), and it is neither synonymous with nor depen- rected at psychiatric health professionals and another directed at dent on genetic testing (Moldovan, Pintea, & Austin, 2017). patients and relatives, to survey their opinions about the genetics Genetic testing is a part of genetic counseling when a genetic of psychiatric disorders and to explore the possible demand for test is available to detect a DNA alteration, such as the 22q11.2 a genetic counseling service focused on psychiatric disorders. CNV; however, this practice is currently very limited in men- tal health settings (Moldovan et al., 2017). A large component of genetic counseling is informing affected subjects about the 2 | SUBJECTS AND M ETHODS risk of developing or transmitting a disease and the associated consequences when subjects plan to have children. However, 2.1 | Sample and setting part of genetic counseling in psychiatry aims to help affected The survey was conducted in the province of Tarragona individuals adapt to mental illness, understand the etiology in southern Catalonia, Spain. This area had a population of MARTORELL et al.    | 3 of 11 800,962 in 2014 and a total area of 6,308 km2, with a relative about the genetics of psychiatric diseases, and the utility of a population density of 127 habitants per km2 and an economic psychiatric specialized genetic counseling unit. Two identi- output of €29,400 GDP per capita. Our institution provides all cal questions were addressed to both professionals and users. public mental health care in this region through a network of The specific questions were “To what extent do you think community and hospitalization centers, with patients ranging psychiatric disorders have a genetic basis?” and “To what from infants to elderly people; further details can be found in extent do you think that a genetic counseling service would Gaviria et al. (2015). The study was approved by the Clinical be useful?” We also asked professionals about their opinions Research Committee of the Hospital Universitari Institut Pere on the genetic basis of specific common psychiatric disor- Mata. Participation in the survey was voluntary, and the par- ders and intellectual disability, the level of education in the ticipation procedure was designed in such a way that it was genetics of psychiatric disorders, and whether they discuss completely anonymous and therefore did not require the re- genetic questions about psychiatric disorders with users. We quest for written informed consent and approval by the Ethical also asked users whether they were worried about transmit- Committee. No compensation was offered for participation. ting a disease to children and whether they talk about genetic concerns with their relatives or mental health professionals. The instruments were written in both Catalan and Spanish, 2.1.1 | Professional sample and the English versions were produced only to be shown We sent the survey by institutional e‐mail to all 723 profes- here. Two members of the research team that conducted the sionals, including psychiatrists, general practitioners, neurol- survey translated the Catalan/Spanish questionnaires into ogists, psychologists, mental health nurses, clinical assistants, English and two independent researchers from our group, but social care workers, social educators, occupational therapists, not members of the survey research team back translated the and other health professionals. The e‐mail contained a link to English questionnaires into Catalan/Spanish. No discrepan- an online questionnaire prepared with the Cardiff TeleformR cies were observed between the two versions. System (Electric Paper GmbH, Lachen, Switzerland). The The professional questionnaire (Figure S1) consisted of completed questionnaire was automatically sent to a server eight questions regarding genetics in mental health, and the and incorporated into the study database in an anonymous respondents indicated their agreement with each item on a form. 10‐point Likert scale ranging from 0 (never or not at all) to 10 (almost always or extremely). Moreover, age, sex, work setting, and job title were collected, together with the respon- 2.1.2 | User sample (Patients and Relatives) dents’ reports of the diagnoses of patients who they most fre- In 2015, 16,372 people had at least one clinical checkup in quently helped. our institution: 11,024 in adult mental health centers, 4,651 The user questionnaire (Figure S2) consisted of five ques- in child and adolescent mental health centers, and 697 in the tions rated on a 10‐point Likert scale similar to that for the center for people with both psychiatric disorder and intel- professional questionnaire. In addition to age and sex, partic- lectual disability. Paper questionnaires, which were prepared ipants were asked whether they were psychiatric patients or to be automatically read with the Cardiff TeleformR System, relatives of psychiatric patients, their education level, and the were left in specific trays of the waiting rooms of seven adult number of affected relatives and their diagnoses. and seven child and adolescent mental health service centers and in the mental health with intellectual disability commu- nity center, and were distributed throughout the territory. Near 2.3 | Data analysis the trays, flyers and posters explaining the nature and aim of Descriptive statistics were obtained from the total sample and the survey were displayed. Appropriate and identifiable bal- from the subgroups of participants and were calculated using lot boxes were available to deposit the anonymous question- percentages, means, and standard deviations. Statistical tests naires. The research team refilled the trays weekly with paper were used not to test hypothesis, but to explore the possible questionnaires for the entire recruitment period (5 months), effect of age, sex, setting, career field, or education in the and a total of 1,500 questionnaires were distributed. responses. Chi‐square tests were used to compare categorical variables with Yale's continuity correction if appropriate, and Mann–Whitney U tests and Kruskal–Wallis tests were used 2.2 | Procedures for numeric variables. ANOVA was used to compare item responses between different age groups. The normality of 2.2.1 | Instruments the distributions of continuous variables was explored using Two survey instruments were designed by academic and clin- Kolmogorov–Smirnov normality tests. ical experts in psychiatry and psychiatric genetics addressing Questions with answer options between 1 and 10 were cat- three domains of interest: sociodemographic data, knowledge egorized to facilitate interpretation of the results. To recode 4 of 11 |    MARTORELL et al. the answers, the following categorization was performed: 0 Among the patients, 5% were younger than 18 years, 7% were (never or not at all), 1–3 (seldom or slightly), 4–6 (sometimes older than 65 years, and 88% were between 18 and 55 years or moderately), 7–9 (often or very), and 10 (almost always or old. Sixty‐nine percent of the users who participated in the extremely). Ratings ≥7 were considered “positive answers,” survey had either a primary or secondary education, which is and ratings ≤3 were considered “negative answers”; ratings usually completed at the age of 16 in Spain, while 22% had between 4 and 6 were considered neither positive nor nega- obtained a university education. tive. Analyses completed with the original codification sys- tem ranging from 0 to 10 and with the recoded data showed 3.1 | Questions addressed to both similar results. professionals and users The professional sample was stratified by sex (male/ female), ranked age (20–35, 36–45, 45–55, 56–65, Two identical questions were addressed to both professionals and >65 years), career field (children and adolescents, adults, and users. Regarding the question, “To what extent do you intellectual disability, and geriatrics), and profession (psychi- think psychiatric disorders have a genetic basis?,” the aver- atrist, psychologist, mental health nurse, social care worker, age rating of professionals was 6.3 ± 1.9 (Figure 2). Although social educator, occupational therapist, other medical spe- 61% of them believed that psychiatric disorders have a ge- cialties, administrative staff, and others). The user sample netic basis (rated ≥ 7), 9.1% thought that psychiatric disor- was stratified by sex (male/female), ranked age (≤18, 19–35, ders do not have or rarely have a genetic basis (rated ≤ 3). 36–45, 46–65, and >65 years), who completed the survey The extent to which professionals felt that a genetic basis for (patient/relative) and educational level (primary, secondary, psychiatric disorders exists was not significantly associated and upper secondary vs postsecondary school, bachelor, or with job title or clinical setting. Higher ratings were obtained equivalent). with increasing age, but no significant differences were ob- All statistical analyses were performed using IBM SPSS served (p = 0.234). Female professionals rated this question Statistics for Windows, Version 23.0 (IBM Corp., Armonk, higher compared to male professionals (p = 0.023). For the NY). Graphs to represent the results were created with Prism, same question regarding the genetics of psychiatric disor- Version 5 (GraphPad, La Jolla, CA). ders, the average rating for users was 5.9 ± 2.6 (Figure 2), which is similar to the rating of 6.3 ± 2.0 observed among professionals (p = 0.106). Almost half of the users, 47%, be- 3 | R ES U LTS lieved that psychiatric disorders are often or almost always related to genetics (rated ≥ 7). At the opposite pole, 5% of We obtained 152 and 959 valid questionnaires from profes- users thought that psychiatric disorders do not have a genetic sionals and users, respectively, which represented 21% of the basis at all (rated 0). Similar to professionals, the user group invited professionals and 64% of the questionnaires delivered aged 36–55 years showed higher ratings for this question to users (Figure 1). Interestingly, most of the respondents, in- compared to the other age groups (p < 0.001). Additionally, cluding 78% of professionals and 67% of users, were women. patients and relatives with the highest level of education (uni- Table 1 shows the sociodemographic features of the survey versity studies) provided the highest ratings for this question participants. Participants ≤45 years old represented 76% of (p = 0.038). the professionals and 53% of the users. Psychiatrists, psy- Regarding the second question addressed to both pro- chologists, and mental health nurses accounted for 64% of the fessionals and users, “To what extent do you think that professional participants according to job title. Regarding the a genetic counseling service would be useful?,” 59% of users, 63% were patients and 37% were relatives of patients. professionals believed that having a genetic counseling unit would be very or extremely useful (rated ≥ 7), while only 16% thought that it would seldom or never be useful Professionals Users (rated ≤ 3) (Figure 2). Interestingly, 80% of users thought that a genetic counseling unit would be very or extremely Delivered (N) 723 1500 useful. Notably, 45% of users rated this question at the max- Collected (N) 154 960 imum value (10), while only 2% thought that having a ge- netic counseling service would be useless (Figure 2). Users Valid (N) 152 959 rated the usefulness of a genetic counseling service ques- tion higher than professionals, 8.1 ± 2.5 versus 5.4 ± 2.8, Participation (%) 21 64 respectively (p < 0.001). The youngest professionals, those aged 20–35 years, rated this question higher than the old- est professionals (p = 0.048), with higher ratings associated FIGURE 1 Flow diagram of participants in the survey with females (p < 0.001). MARTORELL et al.    | 5 of 11 TABLE 1 Characteristics of the participants in the survey Professionals N (%) Users (63% patients, 37% relatives) N (%) Sex Sex Male 34 (22.4) Male 307 (32.7) Female 118 (77.6) Female 631 (67.3) Age, y Age, y <18 51 (5.3) 20–35 53 (34.9) 18–35 188 (19.6) 36–45 63 (41.4) 36–45 265 (27.6) 46–55 29 (19.1) 46–55 262 (27.3) 56–65 7 (4.6) 56–65 130 (13.6) >65 63 (6.6) Setting Setting Child–Adolescent 25 (16.4) Child–Adolescent 166 (17.3) Adult 81 (53.3) Adults 504 (52.6) Intellectual disability 31 (20.4) Intellectual disability 14 (1.4) Psychogeriatrics 15 (9.9) Mixed, child and adult 275 (28.7) Career field Education Psychiatrist 36 (23.7) Primary school, unfinished 101 (10.5) Psychologist 35 (23.0) Primary school 246 (25.7) Mental health nurse 26 (17.1) Secondary school, unfinished 75 (7.8) Social worker 16 (10.5) Secondary school 239 (24.9) Occupational therapist 2 (1.3) Upper secondary school 87 (9.1) Social educator 6 (4.0) Bachelor or equivalent 211 (22.0) Other 31 (20.4) Professionals Users Х ≥ S.D.= 6.3 ≥ 1.9 Х ≥ S.D.= 5.9 ≥ 2.6 % 61% % 40 40 To what extent do 30 30 you think that 47% psychiatric 20 20 disorders have a 10 10 genetic basis? 0 0 0 1 2 3 4 5 6 7 8 9 10 0 1 2 3 4 5 6 7 8 9 10 (-) Genetic basis (+) (-) Genetic basis (+) Х ≥ S.D.= 5.4 ≥ 2.8 Х ≥ S.D.= 8.1 ≥ 2.5 80% F I G U R E 2 Distributions of the % 40 % 40 responses obtained from professionals To what extent do 30 30 and users to the two identical questions you think that a genetic counseling 59% presented to both groups. Participant ratings service would be 20 20 ranged from 0 (never or not at all) to 10 useful? 10 10 (almost always or extremely), which are 0 0 presented on the X‐axis. The Y‐axis shows 0 1 2 3 4 5 6 7 8 9 10 0 1 2 3 4 5 6 7 8 9 10 the percentages of participants who provided (-) Usefulness (+) (-) Usefulness (+) each rating 6 of 11 |    MARTORELL et al. mean scores were 3.7 ± 4.3 for psychologists, 2.0 ± 1.8 for 3.2 | Questions addressed to professionals nurses, and 2.0 ± 1.2 for social workers (p = 0.007) (Figure Professionals were asked about issues focusing on the knowl- 4). Regarding the possibility of sending patients to a genetic edge and worries that users discuss with them regarding the counseling unit, 41% of professionals indicated that they genetic basis of their illnesses. Approximately 12% of pro- would often or almost always send patients to such a unit fessionals provided a rating of ≥7 (often or almost always) (rated ≥ 7) compared to 27% who reported that they would for the question, “How often have patients raised questions seldom or never send patients to such a unit (rated ≤ 3). about the genetics of their disorder?” On a similar ques- tion regarding relatives instead of patients, the percentage of professionals who gave a rating ≥7 was 20% (Figure 3). 3.3 | Questions addressed to users Female professionals tended to rate the frequency of patients Regarding the question, “How often has your psychiatrist asking them about the genetic basis of their disease higher talked to you about the genetics of your disorder?,” 14% re- (p = 0.039). Likewise, higher ratings were provided by pro- ported often or almost always (rated ≥ 7). Remarkably, 36% fessionals working in adult mental health centers (p < 0.001) of users responded that their psychiatrists had never (rated and from psychologists (p = 0.016) compared to other groups 0) talked about this issue, and 30% reported that their psy- in the same category. Regarding the concern of transmitting chiatrists rarely addressed this issue (rated between 1 and a disease to offspring, 19% of professionals stated that pa- 3) (Figure 3). Therefore, 66% of users have seldom or never tients often or almost always (rated ≥ 7) asked them about talked about the genetics of their illnesses with their psychia- this issue. On the other hand, 59% of the professionals be- trists (rated ≤ 3). Regarding the question, “How often has lieved that they had a low level (rated ≤ 3) of education on your family raised questions about the genetics of the disor- the genetics of psychiatric disorders (Figure 4). In fact, only der?,” 30% reported often or almost always (rated ≥ 7), but 8% reported having a high level of education on this topic 25% of the users had never (rated 0) talked about this issue. (rated ≥ 7). The average rating of all professionals for this Differences were observed based on age: users aged 18–35 question was 3.2 ± 2.4. The stratified analysis revealed that responded that psychiatrists talked with them about genet- psychiatrists rated this question higher compared to other ics more frequently compared to older subjects (p = 0.017). professionals, with a mean rating of 4.9 ± 1.9; the other In addition, women gave higher ratings compared to men Professionals Users How often have patients raised questions about How often has your psychiatrist talked to you the genetics of their disorder? about the genetics of your disorder? % % 40 40 Х ≥ S.D.= 2.9 ≥ 2.5 Х ≥ S.D.= 2.7 ≥ 2.9 30 30 20 12% 20 14% 10 10 0 0 0 1 2 3 4 5 6 7 8 9 10 0 1 2 3 4 5 6 7 8 9 10 How often have relatives of your patients raised How often has your family raised questions about questions about the genetics of the disorder? the genetics of the disorder? 40 40 Х ≥ S.D.= 4.2 ≥ 3.5 Х ≥ S.D.= 3.5 ≥ 2.7 30 30 20% 20 20 30% 10 10 0 0 0 1 2 3 4 5 6 7 8 9 10 0 1 2 3 4 5 6 7 8 9 10 How often have patients raised their concerns How often has the concern of conveying the about transmitting the disease to their offspring? disease to your offspring been raised? F I G U R E 3 Distributions of the 40 Х ≥ S.D.= 3.1 ≥ 2.8 40 responses obtained from professionals Х ≥ S.D.= 5.0 ≥ 3.8 30 and users to different questions in the 30 43% questionnaires. Participant ratings ranged 20 20 19% from 0 (never or not at all) to 10 (almost 10 10 always or extremely), which are presented 0 0 on the X‐axis. The Y‐axis shows the 0 1 2 3 4 5 6 7 8 9 10 0 1 2 3 4 5 6 7 8 9 10 percentages of participants who provided (-) Frequency (+) (-) Frequency (+) each rating MARTORELL et al.    | 7 of 11 F I G U R E 4 Self‐reported level of education regarding the genetic basis of psychiatric disorders by distinct professional Psychiatrists Psychologists profiles. Participant ratings ranged from 0 % Х≥S.D.=4.9≥1.9 % Х≥S.D.=3.7≥4.3 40 40 (never or not at all) to 10 (almost always or extremely), which are presented on the 30 30 X‐axis. The Y‐axis shows the percentage of 20 20 participants who provided each rating 10 10 0 0 0 1 2 3 4 5 6 7 8 9 10 0 1 2 3 4 5 6 7 8 9 10 (-) Education level (+) (-) Education level (+) Nurses Social workers % Х≥S.D.=2.0≥1.8 % Х≥S.D.=2.0≥1.2 40 40 30 30 20 20 10 10 0 0 0 1 2 3 4 5 6 7 8 9 10 0 1 2 3 4 5 6 7 8 9 10 (-) Education level (+) (-) Education level (+) (p = 0.001). Regarding the concern of transmitting an illness TABLE 2 Diagnoses indicated by users, patients (N = 604), and to offspring, 43% of users reported that they have often or relatives (N = 335), to be present in their family members almost always been concerned about this issue, and 19% were Patients Relatives almost always concerned (rated 10). Notably, however, 39% of users have rarely or never been concerned about this topic Diagnosis N (%) N (%) (rated ≤ 3). The diagnoses reported by users to be present in Schizophrenia 108 (18) 54 (16) their family members are shown in Table 2. Bipolar disorder 120 (20) 57 (17) Major depressive 156 (26) 57 (17) disorder 4 | D IS C U SSION Autism spectrum 18 (3) 55 (16) disorder The present study found that in our setting, a considerable Obsessive compul- 81 (13) 33 (10) number of professionals and users believe that psychiatric dis- sive disorder orders have a genetic basis; however, users of mental health Attention deficit 66 (11) 89 (26) centers do not often comment on or discuss with psychiatrists and hyperactivity the genetic basis of the psychiatric disorders with which they disorder have been diagnosed. Similar data were obtained when ask- Anxiety disorder 269 (45) 104 (30) ing both psychiatrists and users. Remarkably, a considerable Behavior disorder 62 (10) 56 (16) number of users reported that their psychiatrist never talked to Personality disorder 107 (18) 40 (12) them about the genetics of their illness. This finding contrasts Adaptive disorder 47 (8) 26 (8) with the findings that nearly half of users have often or almost Addictive disorder 55 (9) 25 (7) always been concerned with transmitting a disease to their offspring, and that a considerable number of users, almost Intellectual disability 25 (4) 48 (14) one‐third, reported that questions about the genetics of the disease have arisen often or almost always within their fami- Genetic factors are relevant to the etiology of most psychiat- lies. Thus, our results indicate that this topic is not addressed ric disorders. It the information age, patients can be expected in psychiatrists’ consultations despite patients’ concerns. to want to know the causes of their illnesses. Therefore, in 8 of 11 |    MARTORELL et al. daily clinical practice, patients can be expected to ask about Analytically and clinically valid genetic tests for neu- and discuss the etiology of their diseases with physicians, es- rodevelopmental disorders, including Fragile X syndrome, pecially given that most of the professionals in our setting are Down's syndrome, and neurodegenerative diseases such as aware of the genetic basis of psychiatric disorders. However, Huntington's disease are available. Therefore, genetic coun- the results of the present survey were not consistent with this seling can be offered to screen at‐risk individuals before the expectation and allowed us to speculate about possible expla- onset of symptoms, before clinical diagnosis, or to establish nations. On the one hand, knowledge of psychiatric genetics the diagnosis after symptoms have appeared. However, an es- has increased substantially over the last decade, and these re- timated 30 million Europeans are related to patients affected cent advances, along with the complexity of the genetic basis by genetic conditions that may have been underrecognized of psychiatric disorders, may lead professionals to avoid talk- by the health system. This finding contravenes the European ing in depth with patients, particularly when a considerable Union's aim to create safe, efficient, patient‐centered, and amount of time may be necessary to appropriately address sustainable health‐care systems (McAllister, Moldovan, this subject. On the other hand, other factors may render this Paneque, & Skirton, 2016). In fact, the global number of topic difficult to discuss, including the presence of clinical genetic counselors has been estimated to be small, although and genetic heterogeneity, comorbidity with some neurologi- genetic counseling is considered a growing area (Abacan et cal conditions in a considerable number of cases, and the al., 2019; Cordier, Lambert, Voelckel, Hosterey‐Ugander, & large number of genes and types of genetic variants involved. Skirton, 2012; Ormond et al., 2018). The situation is much Finally, environmental factors play an important role in the worse for psychiatric disorders. Genetic counseling services etiology of psychiatric disorders, and large differences in do not routinely provide assistance to patients with psychiatric genetic and environmental factors between psychiatric disor- disorders, although we currently know that several recurrent ders have been reported, thus complicating the determination CNVs can confer a substantial risk for ASD, SCH, epilepsy, of their etiological roles (Pettersson et al., 2019). Obviously, developmental delays, and congenital malformations (Kirov et the lack of a genetic counseling unit to which patients can al., 2014). Although CNVs have been implicated in these dis- be referred is also a disadvantage when discussing the ge- orders, CNV genetic analysis is usually recommended only for netic and environmental contributors to the etiology of ill- children (Jeste & Geschwind, 2014; Schaefer, Mendelsohn, nesses with patients. Experienced genetic counselors agree & Professional Practice and Guidelines Committee, 2013). on the necessity of equipping health‐care professionals with Regarding ASD, a recent study has explored access to ge- current knowledge of psychiatric genetics/genomics and, netic counseling in six ASD family associations in Catalonia, moreover, effectively communicating these aspects with pa- a geographical area that includes our province. The authors tients, especially when genetic testing is performed (Hoang, identified extensive underutilization of this service, with only Cytrynbaum, & Scherer, 2018). Therefore, genetic counse- 30% of all families receiving a genetic service and only 13% lors must be trained in the genetic basis of psychiatric dis- of patients undergoing genetic screening as recommended orders. In this sense, extensive insight can be gained from (Codina‐Solà, Pérez‐Jurado, Cuscó, & Serra‐Juhé, 2017). the experiences of the world's first genetic counseling ser- Indeed, at least in Catalonia, adult patients affected by psychi- vice in psychiatry in Vancouver, with professionals who have atric disorders with onset in adolescence or adulthood, such treated more than 500 families and demonstrated the benefits as schizophrenia, are not genetically screened, although these of this service in terms of patient empowerment and self‐ef- recurrent risk CNVs have been estimated to be present in 2.5% ficacy after attending genetic counseling (Inglis et al., 2015). of schizophrenia patients (Kirov et al., 2014; Rees et al., 2011). This service has recently reported interest among users in a In addition to the interest that patients may have in accessing prenatal context in knowing the likelihood of their children genetic tests, especially patients with schizophrenia, genetic developing an illness present in the family (Borle, Morris, counseling may play an important role within the framework Inglis, & Austin, 2018) and how they can address this issue of psychiatric/psychotherapeutic treatment because genetic with prenatal genetic counseling (Inglis, Morris, & Austin, testing has psychological, ethical, and clinical implications, 2017). The authors showed that this context also serves as as indicated in the “Genetic Testing Statement” published by an opportunity to engage patients and to help them feel em- the Genetic Testing Working Group from the International powered. Ideally, this training should be generalized to other Society of Psychiatric Genetics (https​://ispg.net/genet​ic-testi​ mental health providers, especially psychiatrists, who are in ng-state​ment/). contact with users, either patients or relatives. Accordingly, Finally, female professionals and users are more aware the International Society of Psychiatric Genetics recently re- and concerned about the genetics of psychiatric disorders ported that informed genetic counseling in psychiatry is in compared to males. Female professionals also reported a greater demand than ever and recommends that genetic edu- higher likelihood of discussing genetics with patients com- cation should become an integral part of psychiatric training pared to male professionals. Among the reasons that may (Nurnberger et al., 2018). explain these gender differences, women may have stronger MARTORELL et al.    | 9 of 11 association with reproduction; therefore, patients feel that this work. The Hospital Universitari Institut Pere Mata did questions about inheritance may be more appropriate for not have any role in the study design, data collection and anal- women versus men. Another reason may be that women ysis, decision to publish, or preparation of the manuscript. professionals may be more empathetic and thus relatable. Therefore, the gender perspective must be considered, and CONFLICT OF INTEREST this issue should be included in future training programs and addressed appropriately. The authors declare no conflict of interest. The strength of this study is the large number of mental health users who participated. However, several limitations ORCID should be mentioned, including the relatively small num- ber of professionals who participated in the study consider- Lourdes Martorell https://orcid.org/0000-0003-4999-2197 ing the number of professionals working in our institution. Elisabet Vilella https://orcid.org/0000-0002-1887-5919 Additionally, the study was conducted in a province with only one public mental health provider with a research group devoted to studying the genetic basis of psychiatric disor- R E F E R E NC E S ders, which may have influenced the results of the survey. Abacan, M. A., Alsubaie, L., Barlow‐Stewart, K., Caanen, B., Although our data were collected from a single province in Cordier, C., Courtney, E., … Wicklund, C. (2019). The global Spain, these results are likely generalizable to most regions in state of the genetic counseling profession. European Journal developed countries. of Human Genetics, 27(2), 183–197. https​ ://doi.org/10.1038/ In summary, the benefits of genetic counseling even with- s41431-018-0252-x out genetic testing have been demonstrated. In addition, evi- Borle, K., Morris, E., Inglis, A., & Austin, J. (2018). Risk communi- dence supports the contributions of SNPs, CNVs, and RCVs cation in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes. Clinical to the development of psychiatric disorders. In some cases, the Genetics, 94(2), 239–245. https​://doi.org/10.1111/cge.13379​ genetic component of a psychiatric disease is highly heritable Codina‐Solà, M., Pérez‐Jurado, L. A., Cuscó, I., & Serra‐Juhé, C. within a family; however, in a significant number of cases, (2017). Provision of genetic services for autism and its impact on the genetic variant has occurred in the germ line and manifest Spanish families. Journal of Autism and Developmental Disorders, as a de novo mutation. Therefore, people suffering from a 47(10), 2947–2956. https​://doi.org/10.1007/s10803-017-3203-4 psychiatric disorder with high heritability, namely, SCH or Colvert, E., Tick, B., McEwen, F., Stewart, C., Curran, S. R., Woodhouse, ASD, should visit a genetic counseling unit, at least during E., … Bolton, P. (2015). Heritability of autism spectrum disorder in the reproductive period. Likewise, families with psychiatric a UK population‐based twin sample. JAMA Psychiatry, 72(5), 415– 423. https​://doi.org/10.1001/jamap​sychi​atry.2014.3028 illness aggregation should also be evaluated. Finally, in addi- Cordier, C., Lambert, D., Voelckel, M.‐A., Hosterey‐Ugander, U., & tion to these two approaches focusing on high heritability and Skirton, H. (2012). A profile of the genetic counsellor and genetic high aggregability, the relatively high number of CNVs that nurse profession in European countries. Journal of Community occur as de novo mutations justifies screening for this type of Genetics, 3(1), 19–24. https​://doi.org/10.1007/s12687-011-0073-x mutation, at least in all severe psychiatric patients, especially Costain, G., & Bassett, A. S. (2012). Clinical applications of schizo- when present with comorbid conditions. Performing more phrenia genetics: Genetic diagnosis, risk, and counseling in the mo- tests and uploading more data in specific databases will in- lecular era. The Application of Clinical Genetics, 5, 1–18. https​:// crease the usefulness of the genetic screening and counseling. doi.org/10.2147/TACG.S21953 Finn, C. T., Wilcox, M. A., Korf, B. R., Blacker, D., Racette, S. R., Sklar, P., In this sense, uploading genetic information as well as pheno- & Smoller, J. W. (2005). Psychiatric genetics: A survey of psychiatrists’ typical and environmental data that would translate from the knowledge, opinions, and practice patterns. The Journal of Clinical clinical to research settings would be helpful. Psychiatry, 66(7), 821–830. https​://doi.org/10.4088/JCP.v66n0703 The results of the present study showed that both profes- Gaviria, A. M., Franco, J. G., Aguado, V., Rico, G., Labad, J., de Pablo, sionals and users are aware of the genetic basis of psychiatric J., & Vilella, E. (2015). A non‐interventional naturalistic study of the disorders, and both believe that access to a genetic counseling prescription patterns of antipsychotics in patients with schizophre- service would be very useful. Notably, although they did not nia from the Spanish province of Tarragona. PLoS ONE, 10(10), e0139403. https​://doi.org/10.1371/journ​al.pone.0139403 report asking their psychiatrists about the genetics of psy- Hippman, C., Ringrose, A., Inglis, A., Cheek, J., Albert, A. Y. K., chiatric disorders, most patients were concerned about these Remick, R., … Austin, J. C. (2016). A pilot randomized clinical trial issues and are interested in psychiatric genetic counseling. evaluating the impact of genetic counseling for serious mental ill- nesses. 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