GET THE APP

Whole-Exome Sequencing's Cost-Effectiveness in Children with Increasing Neurological Problems

Journal of Neurology & Neurophysiology

ISSN - 2155-9562

Short Communication - (2022) Volume 13, Issue 4

Whole-Exome Sequencing's Cost-Effectiveness in Children with Increasing Neurological Problems

Carol Williams*
 
*Correspondence: Carol Williams, Editorial office, Journal of Neurology & Neurophysiology, Brussels, Belgium, Email:

Author info »

Abstract

The purpose of this study was to determine the diagnostic efficacy and cost-effectiveness of whole-exome sequencing (WES) as a standard early-diagnostic tool in children with progressing neurological diseases. During the years 2016–2018, patients with infantile-onset severe neurological illnesses or childhood-onset progressive neurological disorders were prospectively enrolled in the WES study at Helsinki University Hospital's paediatric neurology clinic. A total of 48 individuals underwent a singleton WES. A control group of 49 youngsters had standard diagnostic exams and their results were gathered retrospectively from hospital records. We acquired information about their usage of healthcare services relevant to the diagnosis procedure. From the standpoint of the healthcare provider, the Incremental CostEffectiveness Ratio (ICER) per extra diagnostic was determined. The uncertainty of cost-effectiveness results was estimated using bootstrapping methods. WES had a 38% higher diagnostic yield than a diagnostic route that did not emphasize WES in early diagnosis. WES outperformed other diagnostic approaches, particularly when conducted early, within a year of admission. Our cost-effectiveness estimates are cautious, as they are influenced by WES expenses from 2016 to 2018.

Keywords

Diagnosis • Whole-exome sequencing

Introduction

Over 4000 clinical synopses with neurological involvement are recognized in the Online Mendelian Inheritance of Man database, with over 3000 having a verified molecular foundation. The genetic complexity is significant: a single variant can cause variable symptoms in different patients, as in X-linked adrenoleukodystrophy. For example, Leigh's disease can be caused by variants in more than 75 different genes, and even a single variant can cause variable symptoms in different patients. The development of next-generation sequencing (NGS) tools for the human genome has greatly enhanced diagnostic procedures and in certain cases, has provided focused therapeutic options. Furthermore, early genetic diagnosis gives counselling and reproductive planning information. Whole-exome sequencing (WES) extracts information from the genome's protein-coding genes. When all genes are sequenced instead of just a few candidate genes, the time it takes to find gene abnormalities is cut in half, and new disease-causing genes can be discovered. The cost of analysis has also decreased as a result of method improvement, making regular diagnostics possible. However, health care providers may still perceive NGS technologies to be too costly for clinical use, necessitating cost-effectiveness studies to aid decision-making [1]. Better health outcomes or more effective utilization of health care services may arise from the enhanced and efficient diagnostic output as a result of NGS analysis.

According to a recent meta-analysis, WES has a pooled diagnostic value of 36% in children with suspected genetic disorders, which means the rate of conclusive diagnoses reached. However, there is just a little research on the cost-effectiveness and economic effects of WES currently available. The expenses of genetic tests and WES are shown to be the main cost drivers in a diagnostic work-up to achieve a diagnosis, but if WES is employed as a nearfirst-line test in a selected cohort of patients, and overall budget increase may not be necessary[2].

The diagnostic value and cost-effectiveness of WES as a routine diagnostic tool in paediatric patients with progressing neurological diseases are assessed in this study. Our findings suggest that WES has a higher diagnosis yield (37.5 vs. 24.5%) than a traditional diagnostic strategy using clinical diagnostic methods and gene panel testing. The "early-WES" programme in the first year was undoubtedly the most successful. Our WES group's diagnostic yield matches a newly published meta-analysis of children with suspected genetic disorders. WES led to previously unattainable diagnoses for four out of fifteen patients who were recruited to the trial even after three years of earlier investigations (31%), who had been evaluated using a comprehensive variety of traditional diagnostic techniques [3].

The study's strength is its prospective cohort study design, which allowed researchers to investigate WES as a regular diagnostic tool. A retrospectively collected control group of patients who underwent standard diagnostic testing is also included in the research. However, there are several limitations to this research. The sample size is rather small, and the dwelling district may provide a selection bias. Diagnostic yield varies depending on how effectively the initial patient sample was preselected in various research, and this has a direct impact on cost-effectiveness. If trio-analysis had been used, the diagnostic yield would have been higher. However, in WES studies, yields of 30 to 40% are frequently attained, demonstrating the diagnostic tool's utility. Diagnostic yield for singleton-WES was found to be 26.5% across studies in a benchmark meta-study of children with varied suspected genetic disorders, indicating that this range of yield is typical for child presentations. The sample size of our investigation, which was limited due to a lack of financial resources to conduct WES, may have extended the bootstrapped results' confidence ranges. Third, because the study's goal was to determine the costs of early WES analysis, this sample was chosen at random. Finally, infantile encephalopathies and progressive neurological illnesses of infancy are clinically diverse groups of patients, and to obtain a precise diagnosis, a marathon of investigations is frequently undertaken, raising non-WES diagnostic expenditures. Similar cost-effectiveness analyses for various patient categories might be beneficial [4].

The findings are particularly intriguing because our research group was clinically and genetically varied and had a wide clinical definition - a progressive neurological disease of infancy. We recommend that WES be employed in the first-line diagnosis of undefined progressive neurological illnesses in children because a third of these patients would receive a diagnosis immediately, and therapy could be tailored to the disease. The advancement of NGS technologies and analysis, as well as the steadily dropping cost of WES, make the procedure extremely helpful in the diagnosis of children. Future research should include societal economic evaluations, including expenditures after WES; a recent article found that diagnosisrelated physician consultations do not decrease after a bad WES. Furthermore, the cost-effectiveness should be evaluated using more generic efficacy indicators, such as Quality Adjusted Life Years (QALYs) [5].

Conclusion

WES is a cost-effective and efficient diagnostic technique that should be used in the early stages of the diagnosis of children with progressing neurological diseases. The test's cost-effectiveness is further enhanced by its steadily reducing price.

References

Author Info

Carol Williams*
 
Editorial office, Journal of Neurology & Neurophysiology, Brussels, Belgium
 

Citation: Williams C. Whole-Exome Sequencing's Cost-Effectiveness in Children with Increasing Neurological problems. Neurol Neurophysiol. 2022,13(4), 001-002.

Received: 03-Apr-2022, Manuscript No. jnn-22-62786; Editor assigned: 16-Apr-2022, Pre QC No. jnn-22-62786 (PQ); Reviewed: 24-Apr-2022, QC No. jnn-22-62786 (Q); Revised: 27-Apr-2022, Manuscript No. jnn-22-62786 (R); Published: 29-Apr-2022, DOI: 10.35248/2155-9562.2022.13.4.579

Copyright: ©2022 Williams C. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

situs togel Bandar judi Togel Terpercaya 4D 10 Situs judi Togel Terpercaya Hadiah Terbesar bo bandar judi togel 2022-2023 Bandar judi togel terpercaya 4D 10 Juta situs bandar togel terpercaya bandar togel terpercaya bandar togel terpercaya via dana bandar togel resmi terpercaya Situs Judi Togel Online Terpercaya 2022 bandar Togel terpercaya di asia bandar togel terpercaya bandar togel resmi dan terbesar bandar judi togel prize 123 terpercaya bandar togel terpercaya di asia Link bandar togel terpercaya daftar bandar togel terpercaya agen situs togel online terpercaya situs togel terpercaya situs togel agen situs judi togel terpercaya situs togel terpercaya agen situs togel terpercaya situs togel terpercaya bandar togel terpercaya situs togel terpercaya 10 situs togel terpercaya bo togel terpercaya bandar togel terpercaya situs togel terpercaya bandar togel terpercaya bo togel terpercaya situs togel terpercaya 10 situs togel terpercaya bandar togel terpercaya slot gacor 4d agen togel terpercaya bandar togel terpercaya bo togel terpercaya situs togel terpercaya situs togel terpercaya bandar togel terpercaya agen togel terpercaya bo togel 4d bandar togel terpercaya bandar togel terpercaya situs togel terpercaya bandar togel terpercaya 10 situs togel terpercaya situs togel terpercaya bandar togel terpercaya situs togel terpercaya bandar togel terpercaya situs togel terpercaya slot gacor bandar togel terpercaya situs togel terpercaya slot gacor situs togel terpercaya slot dana 10 situs togel terpercaya bandar togel terpercaya bandar togel terpercaya situs togel terpercaya situs togel terpercaya situs togel terpercaya slot online bandar togel terpercaya 10 situs togel terpercaya situs togel terpercaya bandar togel terpercaya situs togel terpercaya bandar togel terpercaya slot online slot gacor 10 situs togel terpercaya bandar togel situs togel terpercaya situs togel terpercaya 10 situs togel terpercaya situs togel terpercaya slot gacor bandar togel terpercaya situs togel terpercaya bandar togel terpercaya situs togel terpercaya situs togel terpercaya situs togel terpercaya bandar togel terpercaya bandar togel hadiah 4d 10 juta terpercaya bandar togel terpercaya slot online gacor bandar togel terpercaya situs togel terpercaya situs togel terpercaya bandar togel terpercaya situs togel terpercaya bandar togel terpercaya situs togel terpercaya situs togel terpercaya slot online situs togel resmi toto situs togel terpercaya 10 situs togel terpercaya situs togel slot deposit dana polisi togel situs togel terpercaya situs togel terpercaya 10 situs togel terpercaya situs togel terpercaya slot deposit dana situs togel situs togel terpercaya slot deposit dana situs togel terpercaya situs slot gacor situs togel terpercaya situs judi bola Daftar 10 Nama Situs Togel Terpercaya Dengan Bandar Togel Resmi Terbaik Di Indonesia situs togel terpercaya slot deposit dana situs togel terpercaya situs togel terpercaya situs togel terpercaya situs togel terpercaya 10 situs togel terpercaya situs togel terpercaya slot deposit pulsa situs judi bola slot deposit pulsa slot deposit dana situs togel terpercaya slot deposit dana situs judi bola situs togel terpercaya situs judi bola slot deposit dana slot deposit pulsa situs togel terpercaya slot deposit pulsa dana slot 4d Situs togel terpercaya slot online gacor Bandar Togel Terpercaya slot gacor slot deposit dana polisi togel Polisi togel Bandar Togel Terpercaya Bandar Togel Terpercaya slot deposit dana 10rb Bandar Togel Terpercaya Situs Togel Terpercaya Situs Togel Terpercaya slot gacor bandar togel situs slot depo 10k situs slot depo 10k Slot Online Depo 10k slot demo Bandar Togel Terpercaya Situs Togel Terpercaya Slot Deposit Dana Slot Gacor slot demo slot deposit dana Bandar Togel Terpercaya slot gacor Slot Deposit Pulsa Daftar Slot Gacor Bandar Togel Terpercaya Slot Dana 10k slot deposit pulsa tanpa potongan slot gacor Bandar Togel Terpercaya Bandar Togel Hadiah 4d 10 juta Bandar Togel Terpercaya Situs Togel Terpercaya live draw toto macau live draw cambodia live draw china live draw hk live draw sgp live draw sdy live draw taiwan 10 situs togel terpercaya Bandar Togel Terpercaya slot deposit dana bandar togel slot gacor Slot Online Pulsa Slot Online Gacor Bandar Togel Terpercaya slot depo 10k Slot Deposit Pulsa Daftar Slot Deposit Dana Bandar Togel Hadiah 4d 10 juta Terpercaya Bandar Togel Terpercaya Slot Deposit Pulsa slot deposit pulsa Live Result SDY Live Result SGP Live Result HK Situs Togel Terpercaya bandar togel terpercaya Daftar Slot Dana Bandar Togel Terpercaya 10 Situs Togel Terpercaya Live Draw SGP Tercepat Hari Ini Live Draw SDY Tercepat Hari Ini Live Draw HK Tercepat Hari Ini Situs Togel Terpercaya Slot Terpercaya Bandar Togel Online Terpercaya Indonesia Daftar Togel Terpercaya Bandar Togel Terpercaya Daftar Slot Situs Togel Terpercaya Slot Pulsa Daftar Bandar Togel Terpercaya Slot Dana Via Dana Slot Gacor Slot Demo Pragmatic slot online Slot Via Dana Bandar Togel Terpercaya Bandar Togel Terpercaya slot deposit pulsa Slot Deposit Dana Bandar Togel Terpercaya Bandar Togel Terpercaya Slot Deposit Pulsa Tanpa Potongan Slot Dana RTP Slot Live Slot Deposit Pulsa Slot Deposit Dana Bandar Togel Terpercaya Slot Deposit Dana Bandar Togel Terpercaya Bandar Togel Bonus Cashback Terbesar Bandar Togel Terperaya Slot Deposit Pulsa Live Draw Tercepat Bandar Togel Terpercaya Slot Deposit Pulsa Tanpa Potongan Slot Deposit Dana Bandar Togel Terpercaya Bocoran Slot Gacor Hari Ini Slot Demo Data HK, Hongkong Pools Bandar Togel Terpercaya Slot Online Demo slot gacor Daftar Bandar Togel Terpercaya Slot Deposit Pulsa Situs BO Togel Terpercaya Situs Togel Terpercaya Prediksi HK Live Draw HK Situs Slot Online ESMI SLOT Bandar Togel Terpercaya Situs Togel Terpercaya Slot Deposit Dana slot gacor 5 Bandar Togel Terpercaya Situs Slot Online Deposit Pulsa Agen Togel Terpercaya Bonus besar 2022 Slot Gacor Depo 10rb Terbaik IRAMA SLOT Daftar Bandar Togel 2022 Terbaik Terpercaya Hongkong slot deposit pulsa Prediksi Togel Prediksi Togel Hongkong Prediksi Togel Sydney Prediksi Togel Singapore Angka Keramat Prediksi HK Prediksi SGP Prediksi SDY Prediksi HK SGP SDY Prediksi Togel HK SGP SDY Ratu Prediksi Master prediksi slot 4d Bandar Togel Terpercaya Tiraijd Data Sdy prediksi HK Daftar Slot Live Draw HK Prediksi HK Prediksi SGP Prediksi SDY Bandar Togel Terpercaya 5 Bandar Togel Terpercaya Daftar Bandar Togel Terpercaya 5 Bandar Togel Terbaik Live Draw Cambodia Live Draw HK Live Draw SGP Live Draw SDY Live Draw HK Live Draw SGP Live Draw SDY Live Draw Taiwan Live Draw Toto Macau Live Draw Toto Macau Data SGP Live Draw Cambodia Data HK Live Draw China Live Draw Taiwan Live Draw SGP Paito SGP Paito HK Paito SDY Data SGP Live Draw HK Live Draw HK 6D Live Draw SGP Live Draw Singapore Live Draw Sydney Live Draw SDY Live Draw Cambodia Live Draw Taiwan Live Draw Toto Macau Paito SGP Bandar Togel Slot Online Togel Online Slot Deposit Pulsa Prediksi HK Prediksi HK Prediksi Togel Live Draw HK Data SDY Situs Togel Bandar Togel Terpercaya Bandar Togel Terpercaya Data HK Live Draw SDY Live Draw Sydney Live Draw Cambodia Live Draw Cambodia Live Draw SGP Live Draw SGP Live Draw Taiwan Live Draw Taiwan Live Draw China Live Draw China Live Draw China Live Draw China Hasil Slot Gacor Data SDY Data SGP Slot Pulsa Bandar Togel Terpercaya Slot Deposit Dana Prediksi HK Slot Deposit Dana Slot Deposit Dana Slot Deposit Pulsa Slot Deposit Dana Slot Gacor Dana Live Draw Cambodia Prediksi Suhu Togel Polisi Togel Live Draw Hk Live Draw Hk Bandar Togel Terpercaya Dan Terbaik