Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Srivastava, Siddharth; Love-Nichols, Jamie A.; Dies, Kira; Ledbetter, David H.; Martin, Christa Lese; Chung, Wendy K.; Firth, Helen V.; Frazier, Thomas; Hansen, Robin; Prock, Lisa Albers; Brunner, Han G.; Hoang, Ny; Scherer, Stephen W.; Şahin, Mustafa; Miller, David T.

doi:10.1038/s41436-020-0913-3

Cited by 21 publications

(15 citation statements)

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“…Another essential tool for accurate diagnosis is parental genetic testing. The lack of these results in our case is a limitation of this study [ 12 ]. Such testing would help elucidate any history of similar disorders in this patient’s family and establish the specific cause of the disease, the parent of origin.…”

Section: Discussionmentioning

confidence: 93%

The Linkage Between Autism Spectrum Disorder and Dup15q Syndrome: A Case Report

Shehi¹,

Shah²,

Singh³

et al. 2022

Cureus

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Patients diagnosed with autism spectrum disorder (ASD) frequently have a variable presentation and can suffer from underlying conditions, such as Chromosome 15 abnormalities ] The broad diagnosis of ASD and its debilitating symptoms can overshadow underlying conditions and delay crucial interventions. This report describes a male child who was diagnosed with ASD at the early age of 19 months. Hallmark symptoms seen in this case included lack of social eye contact, lack of joint attention, hand-flapping, and missed motor milestones. Genetic methylation assay revealed a duplication on maternally derived chromosome 15, indicating concurrent 15q11-q13 duplication syndrome (Dup15q). Screening assessments for ASD are an important step in the initial management of developmental abnormalities. However, early genetic screening can lead to a more accurate diagnosis, personalized treatment, and better quality of life in patients with atypical symptoms caused by undiagnosed comorbid conditions.

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Section: Discussionmentioning

confidence: 93%

The Linkage Between Autism Spectrum Disorder and Dup15q Syndrome: A Case Report

Shehi¹,

Shah²,

Singh³

et al. 2022

Cureus

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“…Many patients with genetic diseases may receive an incorrect diagnosis 35,36 or live many years without a specific diagnosis 37 . Not having an accurate diagnosis has a negative impact on the quality of life of patients with genetic diseases, who may undergo numerous unnecessary examinations that are displeasing and costly 38 .…”

Section: Discussionmentioning

confidence: 99%

Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases

Ordoñez-Labastida¹,

Montes-Almanza²,

García-Martínez³

et al. 2022

RIC

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Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in medicine has greatly enhanced diagnostic rates of genetically heterogeneous diseases. Objectives: The objectives of the study were to assess the diagnostic yield of WES in a cohort of Mexican individuals with suspected genetic eye disorders and to evaluate the improvement of diagnostic rates by reanalysis of WES data in patients without an initial molecular diagnosis.Methods: A total of 90 probands with ocular anomalies of suspected genetic origin were ascertained. Patients underwent WES in leukocytic DNA. Bioinformatics analysis and Sanger sequencing were used to confirm the disease-causing variants. Only variants identified as pathogenic or likely pathogenic were considered as causal. Results: Initial analysis revealed causal mutations in 46 cases (51%). Reanalysis of WES data 12 months after first analysis resulted in the identification of additional causal variants in 6 patients (7%), increasing the molecular diagnostic yield to 58%. The highest diagnostic rates by disease categories corresponded to hereditary retinal dystrophies (77%) and to anomalies of the anterior segment of the eye (47%). Conclusion: Our study demonstrates that WES is an effective approach for genetic diagnosis of genetic ocular diseases and that reanalysis of WES data can improve the diagnostic yield.

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“…One approach to facilitate access to genomic testing on a population-based scale for infants in a Level IV NICU is to consider the standardized approval of genomic sequencing for neonates who are known to have the highest chance of benefit, regardless of financial status and/or insurance policy. Providing WES as a first-tier test for all infants meeting similar inclusion/exclusion criteria may prove beneficial, as has recently been suggested for individuals with neurodevelopmental delays [ 40 ]. Currently, data has shown patients with seizures and/or neurodevelopmental phenotypes to have a high yield with WES, affecting management 41–48% of the time [ 24 , 41 ].…”

Section: Considerations To Promote Access To Genomic Sequencingmentioning

confidence: 99%

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States

Fishler

Euteneuer

Brunelli

2022

IJNS

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Rare diseases impact all socio-economic, geographic, and racial groups indiscriminately. Newborn screening (NBS) is an exemplary international public health initiative that identifies infants with rare conditions early in life to reduce morbidity and mortality. NBS theoretically promotes equity through universal access, regardless of financial ability. There is however heterogeneity in access to newborn screening and conditions that are screened throughout the world. In the United States and some other developed countries, NBS is provided to all babies, subsidized by the local or federal government. Although NBS is an equitable test, infants admitted to neonatal intensive care units (NICUs) may not receive similar benefits to healthier infants. Newborns in the NICU may receive delayed and/or multiple newborn screens due to known limitations in interpreting the results with prematurity, total parenteral nutrition, blood transfusions, infection, and life support. Thus, genomic technologies might be needed in addition to NBS for equitable care of this vulnerable population. Whole exome (WES) and genome sequencing (WGS) have been recently studied in critically ill newborns across the world and have shown promising results in shortening diagnostic odysseys and providing clinical utility. However, in certain circumstances several barriers might limit access to these tests. Here, we discuss some of the existing barriers to genomic sequencing in NICUs in the United States, explore the ethical implications related to low access, consider ways to increase access to genomic testing, and offer some suggestions for future research in these areas.

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Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Cited by 21 publications

References 0 publications

The Linkage Between Autism Spectrum Disorder and Dup15q Syndrome: A Case Report

The Linkage Between Autism Spectrum Disorder and Dup15q Syndrome: A Case Report

Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States

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