Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study
Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric disorders. Currently, these findings are being translated into clinical practice. However, there is a lack of knowledge and guidelines for psy...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
3 July 2023
|
| In: |
European journal of medical genetics
Year: 2023, Jahrgang: 66, Heft: 8, Pages: 1-10 |
| ISSN: | 1878-0849 |
| DOI: | 10.1016/j.ejmg.2023.104805 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ejmg.2023.104805 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1769721223001118 
|
| Verfasserangaben: | Kati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, Peter Z. Almos, Sarah E. Bergen, Isabella Borg, Nada Božina, Domenico A. Coviello, Franziska Degenhardt, Lana Ganoci, Uffe B. Jensen, Louise Durand-Lennad, Claudine Laurent-Levinson, Andrew McQuillin, Alvydas Navickas, Nikolai P. Pace, Milena Paneque, Marcella Rietschel, Maria Grigoroiu-Serbanescu, Maria Johansson Soller, Jaana Suvisaari, Algirdas Utkus, Evelien Van Assche, Lily Vissouze, Shachar Zuckerman, Boris Chaumette, Kristiina Tammimies |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1865700452 | ||
| 003 | DE-627 | ||
| 005 | 20240307050136.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231016s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ejmg.2023.104805 |2 doi | |
| 035 | |a (DE-627)1865700452 | ||
| 035 | |a (DE-599)KXP1865700452 | ||
| 035 | |a (OCoLC)1425209980 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Koido, Kati |d 1976- |e VerfasserIn |0 (DE-588)173980899 |0 (DE-627)69887997X |0 (DE-576)134817745 |4 aut | |
| 245 | 1 | 0 | |a Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study |c Kati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, Peter Z. Almos, Sarah E. Bergen, Isabella Borg, Nada Božina, Domenico A. Coviello, Franziska Degenhardt, Lana Ganoci, Uffe B. Jensen, Louise Durand-Lennad, Claudine Laurent-Levinson, Andrew McQuillin, Alvydas Navickas, Nikolai P. Pace, Milena Paneque, Marcella Rietschel, Maria Grigoroiu-Serbanescu, Maria Johansson Soller, Jaana Suvisaari, Algirdas Utkus, Evelien Van Assche, Lily Vissouze, Shachar Zuckerman, Boris Chaumette, Kristiina Tammimies |
| 264 | 1 | |c 3 July 2023 | |
| 300 | |a 10 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 16.10.2023 | ||
| 520 | |a Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric disorders. Currently, these findings are being translated into clinical practice. However, there is a lack of knowledge and guidelines for psychiatric genetic testing (PsychGT) and genetic counseling (PsychGC). The European Union-funded COST action EnGagE (CA17130) network was started to investigate the current implementation status of PsychGT and PsychGC across 35 participating European countries. Here, we present the results of a pan-European online survey in which we gathered the opinions, knowledge, and practices of a self-selected sample of professionals involved/interested in the field. We received answers from 181 respondents. The three main occupational categories were genetic counselor (21.0%), clinical geneticist (24.9%), and researcher (25.4%). Of all 181 respondents, 106 provide GC for any psychiatric disorder or NDD, corresponding to 58.6% of the whole group ranging from 43.2% in Central Eastern Europe to 66.1% in Western Europe. Overall, 65.2% of the respondents reported that genetic testing is offered to individuals with NDD, and 26.5% indicated the same for individuals with major psychiatric disorders. Only 22.1% of the respondents indicated that they have guidelines for PsychGT. Pharmacogenetic testing actionable for psychiatric disorders was offered by 15%. Interestingly, when genetic tests are fully covered by national health insurance, more genetic testing is provided for individuals with NDD but not those with major psychiatric disorders. Our qualitative analyses of responses highlight the lack of guidelines and knowledge on utilizing and using genetic tests and education and training as the major obstacles to implementation. Indeed, the existence of psychiatric genetic training courses was confirmed by only 11.6% of respondents. The question on the relevance of up-to-date education and training in psychiatric genetics on everyday related practice was highly relevant. We provide evidence that PsychGC and PsychGT are already in use across European countries, but there is a lack of guidelines and education. Harmonization of practice and development of guidelines for genetic counseling, testing, and training professionals would improve equality and access to quality care for individuals with psychiatric disorders within Europe. | ||
| 650 | 4 | |a Clinical genetic and pharmacogenetic testing | |
| 650 | 4 | |a Genetic counseling | |
| 650 | 4 | |a Healthcare implementation | |
| 650 | 4 | |a Neurodevelopmental disorders | |
| 650 | 4 | |a Psychiatric disorders | |
| 700 | 1 | |a Malmgren, Charlotta Ingvoldstad |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pojskic, Lejla |e VerfasserIn |4 aut | |
| 700 | 1 | |a Almos, Peter Z. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bergen, Sarah E. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Borg, Isabella |e VerfasserIn |4 aut | |
| 700 | 1 | |a Božina, Nada |e VerfasserIn |4 aut | |
| 700 | 1 | |a Coviello, Domenico A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Degenhardt, Franziska |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ganoci, Lana |e VerfasserIn |4 aut | |
| 700 | 1 | |a Jensen, Uffe B. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Durand-Lennad, Louise |e VerfasserIn |4 aut | |
| 700 | 1 | |a Laurent-Levinson, Claudine |e VerfasserIn |4 aut | |
| 700 | 1 | |a McQuillin, Andrew |e VerfasserIn |4 aut | |
| 700 | 1 | |a Navickas, Alvydas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pace, Nikolai P. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Paneque, Milena |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rietschel, Marcella |d 1957- |e VerfasserIn |0 (DE-588)112785751 |0 (DE-627)505574020 |0 (DE-576)289742307 |4 aut | |
| 700 | 1 | |a Grigoroiu-Serbanescu, Maria |e VerfasserIn |4 aut | |
| 700 | 1 | |a Soller, Maria Johansson |e VerfasserIn |4 aut | |
| 700 | 1 | |a Suvisaari, Jaana |e VerfasserIn |4 aut | |
| 700 | 1 | |a Utkus, Algirdas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Van Assche, Evelien |e VerfasserIn |4 aut | |
| 700 | 1 | |a Vissouze, Lily |e VerfasserIn |4 aut | |
| 700 | 1 | |a Zuckerman, Shachar |e VerfasserIn |4 aut | |
| 700 | 1 | |a Chaumette, Boris |e VerfasserIn |4 aut | |
| 700 | 1 | |a Tammimies, Kristiina |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t European journal of medical genetics |d New York, NY [u.a.] : Elsevier, 2005 |g 66(2023), 8, Artikel-ID 104805, Seite 1-10 |h Online-Ressource |w (DE-627)485247275 |w (DE-600)2186601-6 |w (DE-576)267762674 |x 1878-0849 |7 nnas |a Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study |
| 773 | 1 | 8 | |g volume:66 |g year:2023 |g number:8 |g elocationid:104805 |g pages:1-10 |g extent:10 |a Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ejmg.2023.104805 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S1769721223001118 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20231016 | ||
| 993 | |a Article | ||
| 994 | |a 2023 | ||
| 998 | |g 112785751 |a Rietschel, Marcella |m 112785751:Rietschel, Marcella |d 60000 |e 60000PR112785751 |k 0/60000/ |p 18 | ||
| 999 | |a KXP-PPN1865700452 |e 4389686402 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"language":["eng"],"title":[{"title_sort":"Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study","title":"Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study"}],"relHost":[{"note":["Gesehen am 27.05.2020","Fehlerhafte ISSN in paralleler Ausgabe: 1729-7212"],"id":{"issn":["1878-0849"],"zdb":["2186601-6"],"eki":["485247275"]},"physDesc":[{"extent":"Online-Ressource"}],"disp":"Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey studyEuropean journal of medical genetics","type":{"media":"Online-Ressource","bibl":"periodical"},"origin":[{"publisherPlace":"New York, NY [u.a.]","dateIssuedDisp":"2005-","publisher":"Elsevier","dateIssuedKey":"2005"}],"recId":"485247275","pubHistory":["48.2005 -"],"language":["eng"],"part":{"extent":"10","pages":"1-10","issue":"8","year":"2023","text":"66(2023), 8, Artikel-ID 104805, Seite 1-10","volume":"66"},"title":[{"title_sort":"European journal of medical genetics","title":"European journal of medical genetics"}]}],"note":["Gesehen am 16.10.2023"],"id":{"eki":["1865700452"],"doi":["10.1016/j.ejmg.2023.104805"]},"physDesc":[{"extent":"10 S."}],"recId":"1865700452","origin":[{"dateIssuedDisp":"3 July 2023","dateIssuedKey":"2023"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"person":[{"given":"Kati","role":"aut","display":"Koido, Kati","family":"Koido"},{"given":"Charlotta Ingvoldstad","role":"aut","display":"Malmgren, Charlotta Ingvoldstad","family":"Malmgren"},{"family":"Pojskic","display":"Pojskic, Lejla","role":"aut","given":"Lejla"},{"display":"Almos, Peter Z.","role":"aut","given":"Peter Z.","family":"Almos"},{"given":"Sarah E.","role":"aut","display":"Bergen, Sarah E.","family":"Bergen"},{"family":"Borg","given":"Isabella","role":"aut","display":"Borg, Isabella"},{"display":"Božina, Nada","role":"aut","given":"Nada","family":"Božina"},{"role":"aut","given":"Domenico A.","display":"Coviello, Domenico A.","family":"Coviello"},{"display":"Degenhardt, Franziska","given":"Franziska","role":"aut","family":"Degenhardt"},{"display":"Ganoci, Lana","given":"Lana","role":"aut","family":"Ganoci"},{"family":"Jensen","display":"Jensen, Uffe B.","role":"aut","given":"Uffe B."},{"display":"Durand-Lennad, Louise","role":"aut","given":"Louise","family":"Durand-Lennad"},{"family":"Laurent-Levinson","display":"Laurent-Levinson, Claudine","role":"aut","given":"Claudine"},{"family":"McQuillin","role":"aut","given":"Andrew","display":"McQuillin, Andrew"},{"given":"Alvydas","role":"aut","display":"Navickas, Alvydas","family":"Navickas"},{"family":"Pace","role":"aut","given":"Nikolai P.","display":"Pace, Nikolai P."},{"role":"aut","given":"Milena","display":"Paneque, Milena","family":"Paneque"},{"role":"aut","given":"Marcella","display":"Rietschel, Marcella","family":"Rietschel"},{"family":"Grigoroiu-Serbanescu","given":"Maria","role":"aut","display":"Grigoroiu-Serbanescu, Maria"},{"family":"Soller","display":"Soller, Maria Johansson","given":"Maria Johansson","role":"aut"},{"family":"Suvisaari","role":"aut","given":"Jaana","display":"Suvisaari, Jaana"},{"display":"Utkus, Algirdas","role":"aut","given":"Algirdas","family":"Utkus"},{"family":"Van Assche","display":"Van Assche, Evelien","given":"Evelien","role":"aut"},{"family":"Vissouze","given":"Lily","role":"aut","display":"Vissouze, Lily"},{"family":"Zuckerman","role":"aut","given":"Shachar","display":"Zuckerman, Shachar"},{"family":"Chaumette","display":"Chaumette, Boris","given":"Boris","role":"aut"},{"display":"Tammimies, Kristiina","given":"Kristiina","role":"aut","family":"Tammimies"}],"name":{"displayForm":["Kati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, Peter Z. Almos, Sarah E. Bergen, Isabella Borg, Nada Božina, Domenico A. Coviello, Franziska Degenhardt, Lana Ganoci, Uffe B. Jensen, Louise Durand-Lennad, Claudine Laurent-Levinson, Andrew McQuillin, Alvydas Navickas, Nikolai P. Pace, Milena Paneque, Marcella Rietschel, Maria Grigoroiu-Serbanescu, Maria Johansson Soller, Jaana Suvisaari, Algirdas Utkus, Evelien Van Assche, Lily Vissouze, Shachar Zuckerman, Boris Chaumette, Kristiina Tammimies"]}} | ||
| SRT | |a KOIDOKATIMLACKOFGUID3202 | ||