Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting

Nagappa, Madhu; Bindu, Parayil Sankaran; Sinha, Sanjib; Mathuranath, P. S.; Taly, Arun B.

doi:10.1016/j.clineuro.2018.09.012

Cited by 5 publications

(6 citation statements)

References 31 publications

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“…Overall the success rate in our study compares to previously published reports, 17.5%-33%, with similar mainly adult cohorts comprising of patients with varied neurological symptoms. 12,32,33 A higher success rate, up to 42%, has been obtained by rigorous patient selection based on clinical data, 13,34 which is not feasible if CES is used as a first-line tool. In addition, higher success rates are reported in cohorts where only specific disease groups are studied, such as LGMD or peripheral neuropathy.…”

Section: Discussionmentioning

confidence: 99%

“…The utility of CES for finding a genetic cause of disease is reasonably good when the pre‐test probability of a genetic etiology is high, for example, when the disorder is early onset, or when the family history is positive 8–11 . However, only a few studies have directly and prospectively addressed the likelihood of finding causative genetic variants by CES in adult patients with complex neurologic diseases 12,13 …”

Section: Introductionmentioning

confidence: 99%

“…[8][9][10][11] However, only a few studies have directly and prospectively addressed the likelihood of finding causative genetic variants by CES in adult patients with complex neurologic diseases. 12,13 The value of an accurate genetic diagnosis is significant. It enables genetic counseling, eliminates the need for further invasive or expensive diagnostic testing, and may influence treatment decisions.…”

Section: Introductionmentioning

confidence: 99%

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Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders

Sainio

Aaltio

Hyttinen

et al. 2021

Acta Neuro Scandinavica

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders

Sainio

Aaltio

Hyttinen

et al. 2021

Acta Neuro Scandinavica

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“…This was especially true for CMT2 disorders. Over the past decade, advanced genetic testing, including next‐generation sequencing (AGT/NGS), haas markedly facilitated DNA testing in the clinical setting and greatly expanded new gene discovery for CMT and other neuromuscular disorders 12‐25 . Given that AGT/NGS is becoming increasingly more available, comprehensive, cost‐effective (including free panels), and expedited, genetic testing for CMT/HN patients has evolved from targeted to large‐panel testing.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single‐site study

2021

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Introduction/Aims: Advanced genetic testing including next-generation sequencing (AGT/NGS) has facilitated DNA testing in the clinical setting and greatly expanded new gene discovery for the Charcot-Marie-Tooth neuropathies and other hereditary neuropathies (CMT/HN). Herein, we report AGT/NGS results, clinical findings, and diagnostic yield in a cohort of CMT/HN patients evaluated at our neuropathy care center.Methods: We reviewed the medical records of all patients with suspected CMT/HN who underwent AGT/NGS at the Hospital for Special Care from January 2017 through January 2020. Patients with variants reported as pathogenic or likely pathogenic were included for further clinical review. Results:We ordered AGT/NGS on 108 patients with suspected CMT/HN. Of these, pathogenic or likely pathogenic variants were identified in 17 patients (diagnostic yield, 15.7%), including 6 (35%) with PMP22 duplications; 3 (18%) with MPZ variants; 2 (12%) with MFN2 variants; and 1 each with NEFL, IGHMBP2, GJB1, BSCL2, DNM2, and TTR variants. Diagnostic yield increased to 31.0% for patients with a positive family history.Discussion: AGT/NGS panels can provide specific genetic diagnoses for a subset of patients with CMT/HN disorders, which improves disease and genetic counseling and prepares patients for disease-focused therapies. Despite these advancements, many patients with known or suspected CMT/HN disorders remain without a specific genetic diagnosis. Continued advancements in genetic testing, such as multiomic technology and better understanding of genotype-phenotype correlation, will further improve detection rates for patients with suspected CMT/HN disorders.

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“…This diagnostic yield was higher than commercially available gene-panels that had a diagnostic yield of 18%. 7 Lastly, in adult patients with neurological diseases, WES has an overall diagnostic rate of 30%, 8 or even higher in consanguineous populations. 9 Since health care expenditure is a substantial financial burden, it is necessary to develop clinical decision models for any new diagnostic tool based on cost-effectiveness.…”

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confidence: 99%

Individualized medicine comes to the liver clinic

Vairo

Lazaridis

2019

Journal of Hepatology

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Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting

Cited by 5 publications

References 31 publications

Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders

Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single‐site study

Individualized medicine comes to the liver clinic

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