Evidence
Schizophr Res. 2023 Oct 31:S0920-9964(23)00385-7. doi: 10.1016/j.schres.2023.10.024. Online ahead of print.
ABSTRACT
Mental health and neurodevelopmental disorders are highly heritable and can affect morbidity and mortality. A large, growing body of evidence has implicated both common and rare variation in the risk of these disorders. Testing for rare variants, such as copy number variants, has been available in clinical practice for some time in the context of developmental disorders. However, until recently, individuals with mental health and neurodevelopmental disorders in the UK have not tended to access genetic counselling and testing. Here, we describe the development of the All Wales Psychiatric Genomics Service, a collaborative effort between psychiatric and clinical genetics services and the first of its kind in the UK. We provide an overview of the structure and function of the service, our referral criteria, a summary of the 40 referrals we have received to date and our future plans.
PMID:37919212 | DOI:10.1016/j.schres.2023.10.024
Estimated reading time: 3 minute(s)
Latest: Psychiatryai.com #RAISR4D Evidence
Cool Evidence: Engaging Young People and Students in Real-World Evidence
Real-Time Evidence Search [Psychiatry]
AI Research
The translation of psychiatric genetic findings to the clinic
🌐 90 Days
AI Virtual Reality Related Evidence Matrix
- Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders
- Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
- Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
- Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
- Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders
- Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders
- Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders
- De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
- Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
- Exploring the genetic etiology across the continuum of the general psychopathology factor: a Swedish population-based family and twin study
- The Brain Gene Registry: a data snapshot
- The Brain Gene Registry: a data snapshot
- Motor difficulties in 16p11.2 copy number variation
- The circadian system: A neglected player in neurodevelopmental disorders
- Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/intellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
- Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
- Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
- Rare GPR37L1 variants reveal potential association between GPR37L1 and disorders of anxiety and migraine
- Hemorrhoidal disease and its genetic association with depression, bipolar disorder, anxiety disorders, and schizophrenia: a bidirectional mendelian randomization study
- Obstructive sleep apnea and mental disorders: a bidirectional mendelian randomization study
- Vitamin B12 Supplementation in Psychiatric Practice
- Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing
- Shared familial risk for type 2 diabetes mellitus and psychiatric disorders: a nationwide multigenerational genetics study
- Shared familial risk for type 2 diabetes mellitus and psychiatric disorders: a nationwide multigenerational genetics study
- Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment
- School refusal behavior in children and adolescents: a five-year narrative review of clinical significance and psychopathological profiles
- Genetic predisposition for negative affect predicts mental health burden during the COVID-19 pandemic
- The genetic landscape of autism spectrum disorder in the Middle Eastern population
- Genetic and Phenotypic Features of Schizophrenia in the UK Biobank
- Shared Genetic Determinants of Schizophrenia and Autism Spectrum Disorder Implicate Opposite Risk Patterns: A Genome-Wide Analysis of Common Variants
- Polygenic risk of social isolation behavior and its influence on psychopathology and personality
- Polygenic risk of social isolation behavior and its influence on psychopathology and personality
- “In and Out of Context: Deciphering the Genetic and Genomic Architecture of Type 2 Diabetes”
- Attitudes of autistic adults toward genetic testing for autism
- Genetic variants for head size share genes and pathways with cancer
- Genetic variants for head size share genes and pathways with cancer
- Genetic and polygenic investigation of heart rate variability to identify biomarkers associated with Anxiety disorders
- Phenotypes associated with genetic determinants of type I interferon regulation in the UK Biobank: a protocol
- Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants
- Generalized genetic liability to substance use disorders
- Mice with deficiency in Pcdh15, a gene associated with bipolar disorders, exhibit significantly elevated diurnal amplitudes of locomotion and body temperature
- Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology
- Genetically Informed Study Highlights Income-Independent Effect of Schizophrenia Liability on Mental and Physical Health
- Cerebellar dysconnectivity in schizophrenia and bipolar disorder is associated with cognitive and clinical variables
- Cornelia de Lange Spectrum
- Factors impacting intent to seek treatment within youth at clinical high risk for psychosis
- European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry
- Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders
- Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review
- Clinical efficacy of deep transcranial magnetic stimulation (dTMS) in psychiatric and cognitive disorders: A systematic review
- Dissecting the polygenic contribution of attention-deficit/hyperactivity disorder and autism spectrum disorder on school performance by their relationship with educational attainment
- Investigating the increased risk of schizophrenia and bipolar disorders in relatives of ADHD probands using colocalization analysis of common genetic variants
- Genetic correlation and causal associations between psychiatric disorders and lung cancer risk
- Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes
- Nomenclature for psychosis risk in Japan: Survey results from high-risk individuals, caregivers, and mental health professionals
- Nomenclature for psychosis risk in Japan: Survey results from high-risk individuals, caregivers, and mental health professionals
- Smoking-informed methylation and expression QTLs in human brain and colocalization with smoking-associated genetic loci
- Combining Transdiagnostic and Disorder-Level GWAS Enhances Precision of Psychiatric Genetic Risk Profiles in a Multi-Ancestry Sample
- The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
- Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective
- New advances in the diagnosis and treatment of autism spectrum disorders
- New advances in the diagnosis and treatment of autism spectrum disorders
- Childhood neglect, the neglected trauma. A systematic review and meta-analysis of its prevalence in psychiatric disorders
Evidence Blueprint
The translation of psychiatric genetic findings to the clinic
☊ AI-Driven Related Evidence Nodes
(recent articles with at least 5 words in title)
More Evidence
The translation of psychiatric genetic findings to the clinic
🌐 365 Days
AI Virtual Reality Related Evidence Matrix
- Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression
- Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders
- Cross-trait genome-wide association analysis of C-reactive protein level and psychiatric disorders
- 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
- Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
- Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
- Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
- Catatonia and genetic variant in GABA receptor: A case report involving GABRB2
- Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders
- The schizophrenia syndrome, circa 2024: What we know and how that informs its nature
- Genetic architecture of childhood speech disorder: a review
- A Burden of Rare Copy Number Variants in Obsessive-Compulsive Disorder
- Large-scale rare variant burden testing in Parkinson's disease
- Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders
- Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes
- Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders
- Exploring genetic risk for catatonia in a genome wide association study and polygenic risk score analysis
- Navigating the evolving landscape of catatonia research
- De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
- Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
- Is adjustment disorder genetically correlated with depression, anxiety, or risk-tolerant personality trait?
- Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II
- Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature
- Psychiatric disorders and brain white matter exhibit genetic overlap implicating developmental and neural cell biology
- Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
- GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights
- Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype
- Dotting the I's and crossing the T's: A South Australian perspective on variability in troponin thresholds for myocarditis risk in clozapine treatment
- Shared genetic architecture between mental health and the brain functional connectome in the UK Biobank
- Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study
- Sleep disorders in a naturalistic cohort of Dutch psychiatric outpatients: prevalence rates and associations with psychopathology symptom severity and well-being
- Effect of clozapine on suicidality in patients with schizophrenia at a university hospital in Turkey
- DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
- Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
- CRISPR/Cas9 generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction
- Exploring the genetic etiology across the continuum of the general psychopathology factor: a Swedish population-based family and twin study
- Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders
- Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report
- The Brain Gene Registry: a data snapshot
- The association between screen time and genetic risks for neurodevelopmental disorders in children
- The Brain Gene Registry: a data snapshot
- Motor difficulties in 16p11.2 copy number variation
- Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
- Rare variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome
- rvTWAS: identifying gene-trait association using sequences by utilizing transcriptome-directed feature selection
- Identification of novel rare variants for anxiety: An exome-wide association study in the UK Biobank
- Genetic correlations between suicide attempts and psychiatric and intermediate phenotypes adjusting for mental disorders
- Neurodevelopmental Psychiatry Consultation: A National Level Analysis
- A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report
- The circadian system: A neglected player in neurodevelopmental disorders
- Atypical cortical networks in children at high-genetic risk of psychiatric and neurodevelopmental disorders
- Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes
- Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement
- Did the human genome project affect research on Schizophrenia?
- Persistent thinness and anorexia nervosa differ on a genomic level
- Social isolation-induced transcriptomic changes in mouse hippocampus impact the synapse and show convergence with human genetic risk for neurodevelopmental phenotypes
- The contributions of rare inherited and polygenic risk to ASD in multiplex families
- A protective role of low polygenic risk score in healthy individuals carrying ADHD-associated CNVs
- Mismatch negativity and polygenic risk scores for schizophrenia and bipolar disorder
- Dissecting the genetic overlap between severe mental disorders and markers of cellular aging: Identification of pleiotropic genes and druggable targets
- ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
- Genetic Architecture of ADHD and Overlap With Other Psychiatric Disorders And Cognition-Related Phenotypes
- Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/intellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
- Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions