scholarly journals Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism

2022 ◽  
Author(s):  
Fiana Ní Ghrálaigh ◽  
Ellen McCarthy ◽  
Daniel N. Murphy ◽  
Louise Gallagher ◽  
Lorna M. Lopez
Keyword(s):  
Clinical Utility ◽  
Gene Selection ◽  
Diagnostic Yield ◽  
Genetic Evidence ◽  
Clinical Sequencing ◽  
Selection For ◽  
Gene Panels

AbstractAutism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, “gene panels”, marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate.

scholarly journals W15. DETERMINING THE CLINICAL UTILITY OF GENE PANELS IN AUTISM: A STUDY OF DIAGNOSTIC YIELD, RELEVANCE, AND PENETRANCE

2021 ◽  
Vol 51 ◽  
pp. e155
Author(s):  
Fiana Ní Ghrálaigh ◽  
Thomas J. Dinneen ◽  
Ellen McCarthy ◽  
Daniel N. Murphy ◽  
Louise Gallagher ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Diagnostic Yield ◽  
Gene Panels

scholarly journals Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

2021 ◽  
pp. jmedgenet-2020-107303
Author(s):  
Leslie Patricia Molina-Ramírez ◽  
Claire Kyle ◽  
Jamie M Ellingford ◽  
Ronnie Wright ◽  
Algy Taylor ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Gene Selection ◽  
Diagnostic Yield ◽  
Cost Effective ◽  
Gene Panel ◽  
Monogenic Disorders ◽  
Use Of Resources ◽  
Clinical Exome Sequencing ◽  
Cost Effective Approach ◽  
Gene Panels

PurposeThe increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of meeting the diagnostic demand imposed by the vast array of different rare monogenic disorders. We have assessed a clinician-led and phenotype-based approach for virtual gene panel generation for analysis of targeted CES in patients with rare disease in a single institution.MethodsRetrospective survey of 400 consecutive cases presumed by clinicians to have rare monogenic disorders, referred on singleton basis for targeted CES. We evaluated diagnostic yield and variant workload to characterise the usefulness of a clinician-led approach for generation of virtual gene panels that can incorporate up to three different phenotype-driven gene selection methods.ResultsAbnormalities of the nervous system (54.5%), including intellectual disability, head and neck (19%), skeletal system (16%), ear (15%) and eye (15%) were the most common clinical features reported in referrals. Combined phenotype-driven strategies for virtual gene panel generation were used in 57% of cases. On average, 7.3 variants (median=5) per case were retained for clinical interpretation. The overall diagnostic rate of proband-only CES using personalised phenotype-driven virtual gene panels was 24%.ConclusionsOur results show that personalised virtual gene panels are a cost-effective approach for variant analysis of CES, maintaining diagnostic yield and optimising the use of resources for clinical genomic sequencing in the clinic.

Circadian Gene Selection for Time-to-event Phenotype by Integrating CNV and RNAseq Data

2021 ◽  
pp. 104276
Author(s):  
Arnab Kumar Maity ◽  
Sang Chan Lee ◽  
Linhan Hu ◽  
Deborah Bell-pederson ◽  
Bani K. Mallick ◽  
...  
Keyword(s):  
Gene Selection ◽  
Circadian Gene ◽  
Time To Event ◽  
Rnaseq Data ◽  
Selection For

scholarly journals Diagnostic Yield and Clinical Utility of Abdominopelvic CT Following Emergent Laparotomy for Trauma

Radiology ◽  
2016 ◽  
Vol 280 (3) ◽  
pp. 735-742 ◽  
Author(s):  
Adam K. Haste ◽  
Brian L. Brewer ◽  
Scott D. Steenburg
Keyword(s):  
Clinical Utility ◽  
Diagnostic Yield ◽  
Abdominopelvic Ct ◽  
Emergent Laparotomy

Developing a gene panel for pharmacoresistant epilepsy: a review of epilepsy pharmacogenetics

2021 ◽  
Author(s):  
Astrid J Rodriguez-Acevedo ◽  
Louisa G Gordon ◽  
Nicola Waddell ◽  
Georgina Hollway ◽  
Lata Vadlamudi
Keyword(s):  
Gene Expression ◽  
Functional Annotation ◽  
Clinical Utility ◽  
Gene Panel ◽  
Patient Treatment ◽  
Pharmacoresistant Epilepsy ◽  
Genomic Analyses ◽  
Treatment Responses ◽  
Epilepsy Gene ◽  
Gene Panels

Evaluating genes involved in the pharmacodynamics and pharmacokinetics of epilepsy drugs is critical to better understand pharmacoresistant epilepsy. We reviewed the pharmacogenetics literature on six antiseizure medicines (carbamazepine, perampanel, lamotrigine, levetiracetam, sodium valproate and zonisamide) and compared the genes found with those present on epilepsy gene panels using a functional annotation pathway analysis. Little overlap was found between the two gene lists; pharmacogenetic genes are mainly involved in detoxification processes, while epilepsy panel genes are involved in cell signaling and gene expression. Our work provides support for a specific pharmacoresistant epilepsy gene panel to assist antiseizure medicine selection, enabling personalized approaches to treatment. Future efforts will seek to include this panel in genomic analyses of pharmacoresistant patients, to determine clinical utility and patient treatment responses.

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