I'm back (after a slightly longer lunch) - @juandelahozco is presenting on longitudinal trajectories in the EHR from the Clínica San Juan de Dios, Manizales, Colombia. #WCPG2022
Diagnoses of severe mental illness from ICD10, validated against structured interview and chart review. Some BIP-MDD mismatches (see tweets on @loldeloo talk earlier), but agreement is generally very good, especially for SCZ #WCPG2022
Want to extract presentation information from notes - developed NLP algorithm, required named entity recognition and negation detection. Extracted features align with ICD10 codes #WCPG2022
Diagnostic trajectories. One primary diagnosis recorded per visit. Can have multiple diagnoses across time - replace diagnosis ("switch") if incompatible, add as comorbidity otherwise #WCPG2022
Only 35% have single diagnostic trajectories. 30% have comorbidity, 20% switches, 15% both. Most switches happen from BIP to SCZ or MDD. Typical comorbidities - MDD +ANX, SCZ + substance abuse #WCPG2022
MDD has low prospective stability compared to BIP and SCZ. All disorders have low retrospective stability - most people start with a different diagnosis than they ended with #WCPG2022
One switch predicts another, especially within psychotic disorders #WCPG2022
Now Vilte Baltramonaityte will talk on the causal role of stress in multimorbidity, particularly using univariable and multivariable MR in MDD, CAD, and T2D #WCPG2022
Numerous stress phenotypes, phenotype is psychocardiodiabetic multimorbidity (the shared variance from the separate phenotypes) #WCPG2022
Stress sensitivity did not strongly correlated with other stress measures. Maltreatment, neuroticism, SESA (sensitivity to environmental stress and adversity) and worry show some degree of MR evidence. Neuroticism excluded because worry and SESA are components of it.
In multivariable analyses, only maltreatment was significant, although removing SESA resulted in worry being significant too #WCPG2022
Is this just effects on MDD? Yes, although still see worry-multimorbidity effect if restrict to same SNPs. Not so for maltreatment #WCPG2022
• • •
Missing some Tweet in this thread? You can try to
force a refresh
PGC 1000+ scientists from 50+ countries. Primary funding from NIH, but many others as well. 8 sites, 16 PIs in USA, UK, and Ireland. Coordinating committee including regional representatives. #WCPG2022
I am in the #WCPG2022 IDEA plenary, which discusses the need and approaches to decolonising psychiatric genetics. Panel members are Olivia Matshabane, Paola Giusti-Rodriguez @paolagiustirodriguez, @hailianghuang, and @MeeraPurushott1. Chairs are Lea Davis and John Nurnberger.
[I will tweet as much as I can here, but a discussion is always more challenging to tweet]
First question highlights the impact of colonialism in research. This includes lack of resources and support for ECRs, the need for engaging with and working alongside studied groups throughout the research process, including subsequent data storage, access and usage. #WCPG2022
Next is Omar Shanta who will talk about a GWAS of CNVs in 500k individuals (127k cases, mostly EUR, some AFR). Needed consistent CNV calling across entire cohort. Difficult platforms, which makes things challenging. #WCPG2022
Aims: what is the contribution of rare CNVs, which are those CNVs per disorder, how do rare CNVs compare across disorders? #WCPG2022
Assess multiple metrics of CNV burden, comparing tier 1 (pli > 0.5) and tier 2 (pLI < 0.5). #WCPG2022
I am in the PUMAS session at #WCPG2022, listening to @b_gelaye talking about the NeuroGAP study
NeuroGAP seeks to build collaboration across Africa, particularly across early career researchers. Phenotyping working group has members across Kenya, Uganda, Ethiopia and South Africa, as well as from the Broad. Lots of clinicians, valuable for building phenotypes #WCPG2022
8 phenotyping manuscripts accepted, 8 more to come, describing the details of psychiatric phenotyping within and across different African countries #WCPG2022
It's day 3, and @sebatlab is outlining the spectrum of genetic influences that affect autism. Clear that although there are strong rare variant effects, these are not monogenic disorders #WCPG2022
Combining together results from common, rare, and structural variants allows a broader picture of genetic risk. See over-transmission of genetic risk at all levels from parents to affected children #WCPG2022
Can combine common and rare variants together into scores that are more predictive than either score alone. Inverse correlation - individuals with autism with high rare score tend to have lower common score [conditional on having autism - crosses liability threshold] #WCPG2022