Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies

Haviland, Isabel; Daniels, Carolyn I.; Greene, Caitlin; Drew, Jacqueline M.; Love-Nichols, Jamie A.; Swanson, Lindsay C.; Smith, Lacey; Nie, Duyu; Benke, Timothy A.; Sheidley, Beth Rosen; Zhang, Bo; Poduri, Annapurna; Olson, Heather E.

doi:10.1016/j.pediatrneurol.2022.10.006

Cited by 8 publications

(6 citation statements)

References 46 publications

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“… 15 However, genetic testing has emerged as an indispensable tool in epilepsy care. 4 , 5 , 6 We have thus attempted to use some common representation methods in order to provide an insight on the topic, as illustrated in the maps created for the needs of this project. In fact, according to our survey, the Western countries seem to be better provided in terms of genetic testing, as they were better provided for the indication factors of epilepsy care measured for the ESBACE study.…”

Section: Discussionmentioning

confidence: 99%

“…4 The advances in epilepsy genetics and next-generation sequencing (NGS) over the past two decades have led to the discovery of hundreds of new genes and pathogenic variants and to the emerging of targeted therapies. 5,6 This new genomic era in epilepsy and other neurological disorders comes along with an increased interest in an earlier identification of genetic etiologies and several challenges to the clinicians. 7 For example, the clinicians need to stay updated regarding the continuously expanding phenotypical spectrum of specific monogenic epilepsies on the one hand and the overlapping of similar phenotypes related to different genes on the other.…”

Section: Introductionmentioning

confidence: 99%

“… 4 The advances in epilepsy genetics and next‐generation sequencing (NGS) over the past two decades have led to the discovery of hundreds of new genes and pathogenic variants and to the emerging of targeted therapies. 5 , 6 …”

Section: Introductionmentioning

confidence: 99%

“…Many of these genetic etiologies remained undiagnosed or were diagnosed with a delay of several years 4 . The advances in epilepsy genetics and next‐generation sequencing (NGS) over the past two decades have led to the discovery of hundreds of new genes and pathogenic variants and to the emerging of targeted therapies 5,6 …”

Section: Introductionmentioning

confidence: 99%

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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

Papadopoulou,

Muccioli,

Bisulli

et al. 2024

Epilepsia Open

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ObjectiveThe increasingly rapid pace of advancement in genetic testing may lead to inequalities in technical and human resources with a negative impact on optimal epilepsy clinical practice. In this view, the European Reference Network (ERN) for Rare and Complex Epilepsies EpiCARE conducted a survey addressing several aspects of accessibility, availability, costs, and standard practices on genetic testing across ERN EpiCARE centers.MethodsAn online Google form was sent to 70 representatives of ERN EpiCARE centers. Descriptive statistics and qualitative analysis were used for data presentation.ResultsWe received 45 responses (1/center) representing 23 European countries with a better representation of Western Europe. Forty‐five percent of the centers did not have access to all available types of genetic testing, mainly reflecting the limited availability of whole‐genome sequencing (WGS). Thirty‐five percent of centers report cost coverage only for some of the available tests, while costs per test varied significantly (interquartile range IQR ranging from 150 to 1173 euros per test across centers). Urgent genetic testing is available in 71.7% of countries (time‐to‐urgent result: 2 day to 2 months). The average time‐to‐result of specific tests in case of non‐urgent prescription has a significant variance across centers, with the biggest range observed for whole‐exome sequencing (6–128 weeks, IQR: 27 weeks). The percentage of agreement among the experts regarding the choice of genetic test at first intention in specific clinical situations was in all cases less than 50 percent (34.9% to 47% according to the proposed scenarios).SignificanceCosts, time to deliver the results to the clinician, and type of first‐line genetic testing vary widely across Europe, even in countries where ERN EpiCARE centers are present. Increased availability of genetic tests and guidance for optimal test choices in epilepsy remains essential to avoid diagnostic delays and excess health costs.Plain Language SummaryThe survey of the ERN EpiCARE highlights disparities in genetic testing for epilepsy across 45 ERN EpiCARE centers in 23 European countries. The findings reveal variable access to certain genetic tests, with lowest access to WGS. Costs and time‐to‐results vary widely. Urgent genetic testing is available in 71.7% of countries. Agreement among experts on first‐line genetic tests for specific patient scenarios is below 50%. The study emphasizes the need for improved test availability and guidance to avoid diagnostic delays and unnecessary costs. EpiCARE has the mission to contribute in homogenizing best practices across Europe.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

Papadopoulou,

Muccioli,

Bisulli

et al. 2024

Epilepsia Open

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“…2 In these populations, the diagnostic yield of ES/GS is up to 40%, 3,4 and benefits of testing include specific changes in medical management, surveillance, prognosis, family-planning, and/or access to research or support groups. 3,5-7 ES/GS has been found to have similar yield and benefits among individuals with other pediatric-onset neurologic conditions including cerebral palsy, neuromuscular disorders, and microcephaly. 8,9,10 Though ES/GS have the highest diagnostic yield compared to other genetic tests, 11,12 they are often not easily accessible due to barriers including insurance coverage, out of pocket cost, and access to specialists/genetic counselors.…”

Section: Introductionmentioning

confidence: 95%

Social Determinants of Genetics Referral and Completion Rates Among Child Neurology Patients

Cole,

Sellitto,

Baratta

et al. 2023

Preprint

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ObjectiveTo investigate clinical, social, and systems-level determinants predictive of genetics clinic referral and completion of genetics clinic visits among child neurology patients.MethodsElectronic health record data were extracted from patients 0-18 years old who were evaluated in child neurology clinics at a single tertiary care institution between July 2018 to January 2020. Variables aligned with the Health Equity Implementation Framework. Referral and referral completion rates to genetics and cardiology clinics were compared among Black vs White patients using bivariate analysis. Demographic variables associated with genetics clinic referral and visit completion were identified using logistic regressions.ResultsIn a cohort of 11,371 child neurology patients, 304 genetics clinic referrals and 82 cardiology clinic referrals were placed. In multivariate analysis of patients with Black or White ethnoracial identity (n=10,601), genetics clinic referral rates did not differ by race, but were significantly associated with younger age, rural address, neurodevelopmental disorder diagnosis, number of neurology clinic visits, and provider type. The only predictors of genetics clinic visit completion number of neurology clinic visits and race/ethnicity, with White patients being twice as likely as Black patients to complete the visit. Cardiology clinic referrals and visit completion did not differ by race/ethnicity.InterpretationAlthough race/ethnicity was not associated with differences in genetics clinic referral rates, White patients were twice as likely as Black patients to complete a genetics clinic visit after referral. Further work is needed to determine whether this is due to systemic/structural racism, differences in attitudes toward genetic testing, or other factors.

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Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions

Smith,

Leo,

Goddard

et al. 2024

Qual Life Res

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Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies

Cited by 8 publications

References 46 publications

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

Social Determinants of Genetics Referral and Completion Rates Among Child Neurology Patients

Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions

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