scholarly journals Faculty Opinions recommendation of Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

2021 ◽  
Author(s):  
Kathryn P Burdon
Keyword(s):  
Preschool Children ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Eye Disorders

scholarly journals Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

2019 ◽  
Vol 22 (4) ◽  
pp. 745-751
Author(s):  
Eva Lenassi ◽  
Jill Clayton-Smith ◽  
Sofia Douzgou ◽  
Simon C. Ramsden ◽  
Stuart Ingram ◽  
...  
Keyword(s):  
Preschool Children ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Diagnostic Yield ◽  
Anterior Segment ◽  
Ectopia Lentis ◽  
Anterior Segment Dysgenesis ◽  
Eye Disorders ◽  
Retinal Disorders ◽  
Inherited Retinal Disorders

Abstract Purpose A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs). Methods Two hundred one unrelated children (0–5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011–2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. All participants underwent panel-based genetic testing. Results The diagnostic yield of genetic testing for the cohort was 64% (ranging from 39% to 91% depending on the condition). The test result led to altered management (including preventing additional investigations or resulting in the introduction of personalized surveillance measures) in 33% of probands (75% for ectopia lentis, 50% for cataracts, 33% for inherited retinal disorders, 7% for anterior segment dysgenesis, 3% for albinism). Conclusion Genetic testing helped identify an etiological diagnosis in the majority of preschool children with IEDs. This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in significant subsets of patients.

scholarly journals Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

2020 ◽  
Author(s):  
Eva Lenassi ◽  
Jill Clayton-Smith ◽  
Sofia Douzgou ◽  
Simon C. Ramsden ◽  
Stuart Ingram ◽  
...  
Keyword(s):  
Preschool Children ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Eye Disorders

Clinical utility of genetic testing in kidney transplantation

2021 ◽  
Vol 132 ◽  
pp. S134
Author(s):  
Lauren Beretich ◽  
Sarah McCormick ◽  
Trudy McKanna ◽  
Hossein Tabriziani ◽  
Paul Billings ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Genetic Testing ◽  
Clinical Utility

scholarly journals Genetic testing for color vision deficiency

2017 ◽  
Vol 1 (s1) ◽  
pp. 32-34
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Color Vision ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Color Vision Deficiency ◽  
Dark Adaptometry

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner. It is associated with variations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303900) and OPN1MW (OMIM gene: 300821; OMIM disease: 303800) genes. Tritanopia has a prevalence of 1 in 10 000, is inherited in an autosomal dominant manner, and is related to variations in the OPN1SW (OMIM gene: 613522; OMIM disease: 190900) gene. Blue cone monochromatism has a prevalence of 1 in 100 000, is inherited in an X-linked recessive manner and is related to mutations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303700) and OPN1MW (OMIM gene: 300821; OMIM disease: 303700) genes. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, electroretingraphy, color vision testing and dark adaptometry. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

The clinical utility of genetic testing of tissues from pregnancy losses

2016 ◽  
Vol 125 (7) ◽  
pp. 867-873 ◽  
Author(s):  
CA Waterman ◽  
P Batstone ◽  
N Bown ◽  
L Cresswell ◽  
C Delmege ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility

scholarly journals Autonomous early detection of eye disease in childhood photographs

2019 ◽  
Vol 5 (10) ◽  
pp. eaax6363 ◽  
Author(s):  
Micheal C. Munson ◽  
Devon L. Plewman ◽  
Katelyn M. Baumer ◽  
Ryan Henning ◽  
Collin T. Zahler ◽  
...  
Keyword(s):  
Early Detection ◽  
Confidence Interval ◽  
Clinical Utility ◽  
Smartphone Application ◽  
Eye Disease ◽  
Computer Assisted ◽  
Eye Disorders ◽  
Coats Disease ◽  
Sensitivity Specificity

The “red reflex test” is used to screen children for leukocoria (“white eye”) in a standard pediatric examination, but is ineffective at detecting many eye disorders. Leukocoria also presents in casual photographs. The clinical utility of screening photographs for leukocoria is unreported. Here, a free smartphone application (CRADLE: ComputeR-Assisted Detector of LEukocoria) was engineered to detect photographic leukocoria and is available for download under the name “White Eye Detector.” This study determined the sensitivity, specificity, and accuracy of CRADLE by retrospectively analyzing 52,982 longitudinal photographs of children, collected by parents before enrollment in this study. The cohort included 20 children with retinoblastoma, Coats’ disease, cataract, amblyopia, or hyperopia and 20 control children. For 80% of children with eye disorders, the application detected leukocoria in photographs taken before diagnosis by 1.3 years (95% confidence interval, 0.4 to 2.3 years). The CRADLE application allows parents to augment clinical leukocoria screening with photography.

scholarly journals Measuring clinical utility in the context of genetic testing: a scoping review

2020 ◽  
Author(s):  
Shantel E. Walcott ◽  
Fiona A. Miller ◽  
Kourtney Dunsmore ◽  
Tanya Lazor ◽  
Brian M. Feldman ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Scoping Review ◽  
Clinical Utility

scholarly journals Genetic testing for Mendelian myopia

2017 ◽  
Vol 1 (s1) ◽  
pp. 74-76
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian myopia (MM), a large and heterogeneous group of inherited refraction disorders. Variations in the SLC39A5, SCO2 and COL2A1 genes have an autosomal dominant transmission, whereas those in the LRPAP1, P3H2, LRP2 and SLITRK6 genes have autosomal recessive transmission. The prevalence of MM is currently unknown. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination and other tests depending on complications. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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