Infraestructura de Medicina de Precisión asociada a la Ciencia y la Tecnología
BACKGROUND: It is estimated that about 3-5% of psychiatric patients carry neuropsychiatric copy number variants (npCNV), the most common being the 22q11.2 deletion.
METHODOLOGY: The project is organized into 8 work packages (WP). WP1: Coordination, management and dissemination. OBJECTIVE 1. WP2: Design of the training package for psychiatrists and the screening tool. WP3: Implementation of the screening tool by psychiatrists recruiting patients with neurodevelopmental disorders (N= 2000). WP4: CNV analysis to assign participants as npCVN carriers or non-carriers (including 22q11.2DS). WP5: Patients with npCNV scheduled for genetic counseling. WP6: Deep learning (DL) computing of genomic data, facial imaging, and clinical data to refine the detection tool. WP7: Evaluation of the feasibility of the screening program and assessment of the satisfaction of professionals and patients. OBJECTIVE 2. WP8: Single nucleotide polymorphism (SNP) analysis to calculate polygenic risk scores (PRS) for psychiatric disorders and calculate the overall risk of each participant (npCNV + PRS). Differential analysis of methylome (DM) and whole genome sequencing (WGS) in four clinical groups: A) 22q11DS carriers (N=20), B) other npCNV carriers (N = 60), non-npCNV carriers with C) high (N= 60), and D) low severity score (N=60) on the clinical checklist. DL calculates multi-omics data, facial images, and clinical data to predict psychiatric diagnoses, considering the gender perspective.
VIABILITY: The project’s 17 research groups have extensive experience in psychiatric genetics and genetic counselling. The project involves two IMPaCT (Genomic Medicine and Data Science) structures; the participation of national and international researchers from 22q11.2DS; and the participation of patient associations, including 22q11.2DS.
(1) To demonstrate that the implementation of a “screening tool” in mental health centers based on clinical data and facial images allows the identification of patients with CNV neuropsychiatry (CNVnp). Following genetic counseling, these patients are accurately diagnosed, informed, and treated, thus improving their care and quality of life.
(2) To evaluate how the combination of multi-omics data (CNV, single nucleotide polymorphisms [SNPs], whole genome sequencing [WGS], and methylome) and phenotypic data improves patient diagnosis and follow-up compared to current standards of care