ArticleEuropean journal of human genetics : EJHG2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Unraveling the Complexity of Metabolic Disorders Through Biomarkers: A Focus on Obesity and Type 2 Diabetes Mellitus.Biomedicines · 2025Article
- NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.International journal of molecular sciences · 2025Review
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Adult genomic medicine: lessons from a multisite study of 2700 patients.Genome medicine · 2025Article
- Health care providers' experiences with genetic testing in patients at risk for hereditary angioedema.The journal of allergy and clinical immunology. Global · 2025Article
- Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.European journal of human genetics : EJHG · 2025Article
- Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders.PloS one · 2025Article
- Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.European journal of human genetics : EJHG · 2024Article
- Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.European journal of human genetics : EJHG · 2024Article
- The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024Review
- Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.Genes · 2023Review
- At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.European journal of human genetics : EJHG · 2023Article
- Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023Review
- 2022: the year that was in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2023Article
- Article
- Editorial: Elucidation of the causes of human disease by multi-omics integration.Frontiers in genetics · 2023Article
- Proteomics in Inherited Metabolic Disorders.International journal of molecular sciences · 2022Review
- Guidelines, guidelines everywhere-and still I'm not sure what to do.European journal of human genetics : EJHG · 2022Article
Corrections and comments
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Authors and funding
36 authors at 8 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To present our experience using a multiomic approach, which integrates genetic and biochemical testing as a first-line diagnostic tool for patients with inherited metabolic disorders (IMDs). A cohort of 3720 patients from 62 countries was tested using a panel including 206 genes with single nucleotide and copy number variant (SNV/CNV) detection, followed by semi-automatic variant filtering and reflex biochemical testing (25 assays). In 1389 patients (37%), a genetic diagnosis was achieved. Within this cohort, the highest diagnostic yield was obtained for patients from Asia (57.5%, mainly from Pakistan). Overall, 701 pathogenic/likely pathogenic unique SNVs and 40 CNVs were identified. In 620 patients, the result of the biochemical tests guided variant classification and reporting. Top five diagnosed diseases were: Gaucher disease, Niemann-Pick disease type A/B, phenylketonuria, mucopolysaccharidosis type I, and Wilson disease. We show that integrated genetic and biochemical testing facilitated the decision on clinical relevance of the variants and led to a high diagnostic yield (37%), which is comparable to exome/genome sequencing. More importantly, up to 43% of these patients (n = 610) could benefit from medical treatments (e.g., enzyme replacement therapy). This multiomic approach constitutes a unique and highly effective tool for the genetic diagnosis of IMDs.
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