TY - JOUR
T1 - What do European clinical guidelines say about genetic testing for people with neuropsychiatric disorders?
T2 - A scoping review
AU - Arican, Izemnur
AU - van der Horst, Marte
AU - Bass, Nicholas
AU - Zinkstok, Janneke R
N1 - Publisher Copyright:
© 2025
PY - 2025/12/3
Y1 - 2025/12/3
N2 - Genomic medicine has progressed rapidly, and many high-risk genetic variants for neuropsychiatric disorders have now been identified. However, clinical genetic testing is rarely utilized in psychiatric settings. This scoping review examined European clinical practice guidelines (CPGs) for genetic testing in neuropsychiatric disorders to map recommendations and identify gaps. Seventeen CPGs published since 2010 met the inclusion criteria. There was a wide variation in scope, quality, and conditions covered. Seven CPGs addressed autism spectrum disorder, generally recommending testing when additional features such as intellectual disability or dysmorphology were present. One CPG covered the investigation of intellectual disability, advising Fragile X testing, chromosomal microarray, and whole-genome sequencing. Most CPGs (11/17), related to dementia, advising testing with very early onset and/or an indicative family history. Overall, European CPGs for genetic testing in psychiatry vary significantly, contributing to clinician uncertainty. Harmonizing evidence-based CPGs is crucial to advance the integration of genetic testing in psychiatric practice.
AB - Genomic medicine has progressed rapidly, and many high-risk genetic variants for neuropsychiatric disorders have now been identified. However, clinical genetic testing is rarely utilized in psychiatric settings. This scoping review examined European clinical practice guidelines (CPGs) for genetic testing in neuropsychiatric disorders to map recommendations and identify gaps. Seventeen CPGs published since 2010 met the inclusion criteria. There was a wide variation in scope, quality, and conditions covered. Seven CPGs addressed autism spectrum disorder, generally recommending testing when additional features such as intellectual disability or dysmorphology were present. One CPG covered the investigation of intellectual disability, advising Fragile X testing, chromosomal microarray, and whole-genome sequencing. Most CPGs (11/17), related to dementia, advising testing with very early onset and/or an indicative family history. Overall, European CPGs for genetic testing in psychiatry vary significantly, contributing to clinician uncertainty. Harmonizing evidence-based CPGs is crucial to advance the integration of genetic testing in psychiatric practice.
KW - genetic
KW - guideline
KW - neuropsychiatric disorders
KW - review
KW - scoping
KW - testing
UR - https://www.scopus.com/pages/publications/105027456084
U2 - 10.1097/YPG.0000000000000407
DO - 10.1097/YPG.0000000000000407
M3 - Review article
C2 - 41408787
SN - 0955-8829
VL - 36
SP - 1
EP - 12
JO - Psychiatric Genetics
JF - Psychiatric Genetics
IS - 1
ER -