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- Koido, Kati, et al.
(författare)
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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe : A multi-professional survey study
- 2023
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Ingår i: European Journal of Medical Genetics. - : Elsevier. - 1769-7212 .- 1878-0849. ; 66:8
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 2. |
- Mažeikienė, Asta, et al.
(författare)
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The Association between Endogenous Hair Steroid Hormones and Social Environmental Factors in a Group of Conscripts during Basic Military Training
- 2021
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1661-7827 .- 1660-4601. ; 18:22, s. 1-18
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Tidskriftsartikel (refereegranskat)abstract
- This study aimed to analyse the association between endogenous hair steroid hormones as reliable biological indicators of an individual’s stress level and the social environmental factors experienced during military training that are manifested at the beginning of compulsory military service. Hair steroid hormone concentrations—cortisol, cortisone, dehydroepiandrosterone (DHEA), and testosterone—in a group of 185 conscripts were measured using the ultra-high performance liquid chromatography-tandem mass spectrometry method. Six subjective social environmental factors in the military—attitude towards the military and military service, adaptation to the military environment, team, task, and norm cohesion, as well as psychological (un)safety in the group—were evaluated using military-specific research questionnaires. Weak but significant negative correlations were identified between cortisol and adaptation (r = −0.176, p < 0.05), attitude (r = −0.147, p < 0.05) as well as between testosterone and task cohesion (r = −0.230, p < 0.01) levels. Additionally, a multiple forward stepwise regression analysis highlighted that cortisone variation might be partially explained by task cohesion; the DHEA—determined by psychological (un)safety in the group, attitude towards the military and military service, and norm cohesion; and the testosterone—determined by task cohesion and adaptation to the new military environment. The results of this study suggest that subjective measures of social factors can be used to predict hair steroid hormone levels as objective measures of the chronic stress perceived by conscripts during their basic military training.
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