Diagnostic Outcome of Genetic Testing for Neuromuscular Disorders in a Tertiary Center

Hafeez, Komal; Shaibani, Aziz

doi:10.1097/cnd.0000000000000389

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…MPS has emerged as a valuable tool for refining or altering NMD diagnoses [2,3], providing prognostic information and family risk assessment [4], optimizing treatment options [5,6], and identifying pharmacogenetically significant variants [5,7]. Nonetheless, despite the advantages of MPS, approximately half of the patients still do not receive a molecular diagnosis after initial diagnostic workup [8][9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis

Yang,

Chen

et al. 2023

Preprint

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BackgroundA considerable number of patients suffering from neuromuscular disorders (NMD) are unable to receive an accurate diagnosis through initial genetic testing. It is imperative to develop a cost-effective diagnostic strategy that incorporates appropriate multi-omics techniques.MethodsThis study included 33 NMD patients with negative results from whole-exome sequencing (WES). Whole-genome sequencing (WGS) and RNA sequencing (RNA-seq) were performed concurrently to evaluate clinical utility. Additionally, eight diagnostic pathways were compared in terms of diagnostic rate, turnaround time, and cost.ResultsOur implementation of parallel WGS and RNA-seq testing successfully validated the clinical utility of this strategy in the cohort of 33 NMD patients initially yielding negative results from WES. The combined utilization of both methods resulted in an additional diagnosis for 42% (15/33) of the patients, with WGS contributing to 36% and RNA-seq contributing to 6% of the diagnoses. The Integration of alternative splicing results derived from RNA-seq data into variant filtering significantly reduced the number of rare intronic variants requiring interpretation and provided compelling evidence to support the classification of variant pathogenicity based on functional impact. Our comprehensive analysis, comparing eight different diagnostic pathways, revealed the cost-effectiveness of parallel WGS and RNA-seq testing as a diagnostic approach for patients. Moreover, the analysis of rare genomic findings within our cases showcased their potential to inform patient care, aid treatment decisions, and expand the range of NMD mutations in diagnosing rare NMD cases.ConclusionThe integration of parallel WGS and RNA-seq testing represents a transformative diagnostic approach for NMD patients. The cost-effectiveness of this approach, coupled with its ability to improve diagnostic yield and interpretation efficiency, makes it a highly recommended strategy for clinical implementation to enhance the management and care of NMD patients.

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Section: Introductionmentioning

confidence: 99%

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis

Yang,

Chen

et al. 2023

Preprint

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Genetic Neuromuscular Diseases

Katerelos

2024

Neuromuscular Diseases - How to Recognize and Treat Them [Working Title]

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Genetic neuromuscular diseases are a diverse group of disorders caused by mutations that impact muscle fibers, motor neurons, and neuromuscular junctions. Notable examples of these disorders include Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and myotonic dystrophy, all of which manifest symptoms such as progressive muscle weakness and atrophy. Recent advancements in genetic diagnostics, particularly whole-exome sequencing, have significantly enhanced the accuracy of diagnoses and facilitated the development of personalized treatment strategies, which are crucial for improving patient outcomes. Innovative therapeutic approaches, such as gene therapy and CRISPR-Cas9 technology, hold considerable potential for rectifying genetic anomalies and creating targeted treatment options. Current research endeavors aim to expand our comprehension of the underlying mechanisms of these disorders, with particular emphasis on inflammation and cellular repair mechanisms. As our understanding evolves, there is optimism for the emergence of more effective therapeutic interventions, ultimately leading to an improved quality of life for individuals affected by these complex conditions.

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Diagnostic Outcome of Genetic Testing for Neuromuscular Disorders in a Tertiary Center

Cited by 2 publications

References 6 publications

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis

Genetic Neuromuscular Diseases

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