Genetic testing and diagnosis of inherited retinal diseases

AbstractInherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy–based treatments and ongoing clinical studies. While advances in molecular diagnostic technologies have significantly improved the understanding of IRDs and identification of disease-causing variants, training in genetic diagnostics among ophthalmologists is limited. In this review, we will provide ophthalmologists with an overview of genetic testing for IRDs, including the types of available testing, variant interpretation, and genetic counseling. Additionally, we will discuss the clinical applications of genetic testing in the molecular diagnosis of IRDs through case studies.

Download Full-text

Emerging Homogeneous DNA-based Technologies in the Clinical Laboratory

Clinical Chemistry ◽

10.1093/clinchem/47.6.990 ◽

2001 ◽

Vol 47 (6) ◽

pp. 990-1000 ◽

Cited By ~ 63

Author(s):

Carole A Foy ◽

Helen C Parkes

Keyword(s):

Genetic Testing ◽

Clinical Setting ◽

Clinical Laboratory ◽

Molecular Diagnostic ◽

End User ◽

Wide Range ◽

And Performance ◽

Diagnostic Technologies ◽

Insight Into ◽

Diagnostic Setting

Abstract Background: Advances in molecular diagnostic technologies have enabled genetic testing in single closed-tube reactions. The purpose of this review is to highlight some of the platforms and technologies currently available for the homogeneous detection of targets and the application of the technologies in the clinical setting. Validation issues surrounding the technologies, which may need to be addressed before they can become widely accepted, will also be discussed. Approach: This review discusses the principles of several of the major technologies available for performing homogeneous genetic analyses. Publications arising from the application of the technologies in a wide range of clinical areas are used to highlight and compare the potential advantages and shortcomings of the various technologies. Content: This review is descriptive and focuses on three areas: the technologies available for performing homogeneous analysis, the clinical applications where the technologies are being used, and validation issues surrounding the acceptance of the technologies in the general clinical setting. Summary: This review intends to give the reader a greater understanding of the various technologies available for performing homogeneous genetic testing in the clinical laboratory. Through insight into the principles and performance characteristics underlying these technologies, the end user can evaluate their value and limitations in the clinical diagnostic setting.

Download Full-text

How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care

Expert Review of Molecular Diagnostics ◽

10.1586/erm.11.85 ◽

2012 ◽

Vol 12 (1) ◽

pp. 25-37 ◽

Cited By ~ 13

Author(s):

Linnea M Baudhuin ◽

Leslie J Donato ◽

Timothy S Uphoff

Keyword(s):

Genetic Testing ◽

Patient Care ◽

Molecular Diagnostic ◽

Diagnostic Technologies

Download Full-text

Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies

Genetics and Molecular Biology ◽

10.1590/s1415-475738320140204 ◽

2015 ◽

Vol 38 (3) ◽

pp. 332-337 ◽

Cited By ~ 7

Author(s):

Rosane Paixão Schlatter ◽

Ursula Matte ◽

Carisi Anne Polanczyk ◽

Patrícia Koehler-Santos ◽

Patricia Ashton-Prolla

Keyword(s):

Genetic Testing ◽

Public Policies ◽

Molecular Diagnostic ◽

Diagnostic Technologies

Download Full-text

Telegenetics for inherited retinal diseases in the COVID-19 environment

International Journal of Retina and Vitreous ◽

10.1186/s40942-021-00301-z ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Ahmad Al-Moujahed ◽

Aarushi Kumar ◽

Teja Chemudupati ◽

Stephen H. Tsang ◽

Vinit B. Mahajan

Keyword(s):

Genetic Testing ◽

Diagnostic Tests ◽

Family Counseling ◽

Retinal Diseases ◽

Clinical Testing ◽

Medical Genetic ◽

Retinal Dystrophies ◽

Number Of Patients ◽

Virtual Visits ◽

Main Components

AbstractInherited retinal diseases (IRDs) are visually debilitating conditions that affect families worldwide. They require extensive clinical testing, examination, and patient and family counseling, which are frequently accomplished over single-day extended clinic visits. However, the COVID-19 pandemic has limited the number of patients and staff allowed in clinics, leading to interruptions in care. We therefore developed telehealth management protocols for complete or hybrid virtual visits. The three main components of our telegenetics approach included reviewing the diagnostic tests results remotely, in-person or virtual video visits with a retina specialist, and virtual genetic testing using saliva kits. During the first 5 months of the program, telegenetic care was provided for 80 patients, including 3 international patients, and a spectrum of retinal dystrophies were diagnosed and managed. In conclusion, telegenetic virtual visits ensure continuity of care while reducing patient and provider exposure to SARS-CoV-2 and may continue and expand into other medical genetic conditions long after the pandemic.

Download Full-text

Ophthalmic Drug Delivery Systems for the Treatment of Retinal Diseases: Basic Research to Clinical Applications

Investigative Opthalmology & Visual Science ◽

10.1167/iovs.10-5392 ◽

2010 ◽

Vol 51 (11) ◽

pp. 5403 ◽

Cited By ~ 132

Author(s):

Henry F. Edelhauser ◽

Cheryl L. Rowe-Rendleman ◽

Michael R. Robinson ◽

Daniel G. Dawson ◽

Gerald J. Chader ◽

...

Keyword(s):

Drug Delivery ◽

Drug Delivery Systems ◽

Basic Research ◽

Delivery Systems ◽

Clinical Applications ◽

Retinal Diseases ◽

Ophthalmic Drug Delivery ◽

Ophthalmic Drug

Download Full-text

Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations

Archives of Pathology & Laboratory Medicine ◽

10.5858/2003-127-1565-bstfdo ◽

2003 ◽

Vol 127 (12) ◽

pp. 1565-1572

Author(s):

Susan H. Bernacki ◽

Daniel H. Farkas ◽

Wenmei Shi ◽

Vivian Chan ◽

Yenbou Liu ◽

...

Keyword(s):

Cystic Fibrosis ◽

Genetic Testing ◽

Cell Lines ◽

Molecular Genetic ◽

Hereditary Hemochromatosis ◽

The Other ◽

Molecular Diagnostic ◽

Molecular Genetic Testing ◽

Diagnostic Applications ◽

Lymphocyte Cell

Abstract Context.—Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited. Objective.—To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus–transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis). Design.—Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods. Results.—We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform. Conclusions.—Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a “real-life” situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.

Download Full-text