inherited retinal disease genetic testing

Posted on November 7, 2022 by

This has accelerated the development of further gene therapies for other forms of IRD, including gene augmentation, gene editing (CRISPR/Cas9) and RNA-based therapies.9 Currently, there are over 30 active clinical trials for gene therapy for patients with IRD.10, Assessment of eligibility for ocular gene therapies requires identification of patients pathogenic genetic variant. 2022 Mar 29;13(4):615. doi: 10.3390/genes13040615. While clinical information from a family member or research grade testing is useful in a clinical setting, only patients who have undergone clinical testing themselves were included in this analysis. If your disease is caused by a mutation or a gene that has not been identified before, genetic testing may not be able to identify it. Accessibility Genetic tests for inherited retinal pathologies Inherited retinal diseases (IRDs) are caused by one or more mutations in the DNA. The molecular basis of human retinal and vitreoretinal diseases. Consanguinity was noted in a small percentage of patients (17, 3.6%). Patients had received care for different IRDs grouped as follows: panretinal pigmentary retinopathies (283, 61%), macular dystrophies (136, 29.3%), stationary diseases (23, 5%), hereditary vitreoretinopathies (14, 3%), and other IRDs (8, 1.7%). The data are not publicly available due to privacy or ethical restrictions. The cost of genetic testing for IRDs is covered by each provincial health department. It is important to work with a vision care team because genetic testing does not always deliver a clear result. This information is valuable for ophthalmologists and other healthcare professionals to reflect on their current genetic test ordering and the benefits of identifying patient-specific variants. After removing duplicate records, clinical records were reviewed by HM for accuracy of diagnosis, and those with incorrect or uncertain diagnoses as documented by clinicians were excluded, including 20 cases of possible adult vitelliform macular dystrophy, which were not possible to distinguish from age-related macular degeneration from clinical records. Genetic testing was performed with the corresponding results available for 44 patients (9.5%). Most rare retinal degenerative diseases (RDDs) - including retinitis pigmentosa, Stargardt disease, Usher syndrome and choroideremia - are inherited and usually caused by one or more defects (mutations) in a single gene. To assess the prevalence of genetic testing for inherited retinal diseases (IRDs) in a tertiary practice setting. Successful genetic testing can tell you a lot about your condition. Vision loss ultimately results from damage to the retina at the back of the eye. Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice, Correspondence: Lauren N Ayton, Email layton@unimelb.edu.au. Journal of Genetic Counseling, 19(4), 330-342. 2022 Jul 15;9:906482. doi: 10.3389/fmed.2022.906482. Most clinical records (69.2%) did not document genetic testing status. Treasure Island (FL): StatPearls Publishing; 2022 Jan. Disclaimer, National Library of Medicine You may notice problems with Retinal diseases caused by one or more genetic mutations; changes to the amount or structure of DNA, which are passed down through generations are called inherited retinal diseases (IRDs). Qualitative Research in Psychology, 3(2), 77-101. The benefits of genetic testing include confirming clinical diagnosis to identify genetic disorders with systemic associations, provide information for family members, and . Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies, Acceptance of genetic testing in a general population: age, education and gender differences, Prevalence of overweight and obesity among women of childbearing age: results from the 2002 National Survey of Family Growth, Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation. The main outcome measure is the likelihood of obtaining a genetic diagnosis using NGS 176. Fighting Blindness Canada Next-Generation Sequencing Applications for Inherited Retinal Diseases. However, our results are less than those reported in Brazil (>10%),35 Spain (11%),22 and Iran (76%).30 A study by Khan et al (2017) found that diagnostic yield increased from 45% to 60% when consanguinity was considered to select the most appropriate test.36 This result supports the importance of capturing patients ethnic background and pedigree structure to increase detection rates of the disease-causing variant.36, In the current study cohort, the predominant inheritance pattern was autosomal recessive (44.2%) followed by autosomal dominant (12.9%) and X-linked inheritance (4.7%). 10.1016/j.ajhg.2016.12.003 To our knowledge, there are no studies exploring the rate and outcomes of IRD genetic testing ordered by Australian ophthalmologists in a clinical private tertiary care setting. This study provides a snapshot of ophthalmic practices in genetic test ordering for definitive clinical diagnoses, establishing inheritance patterns, family planning, and assessing patients suitability for gene-targeted therapies, which will be of interest to many general and specialised retinal ophthalmologists. Genetic testing also plays a big role in assisting the researchers to better understand disease pathways in the hope that it will help progress clinical research and develop appropriate treatment for inherited retinal diseases. Assessment of eligibility for ocular gene therapies requires identification of patients' pathogenic genetic variant. KT has received an honorarium from Biogen for speaking at an internal training event. This study sought to evaluate the current prevalence of genetic testing, distribution of IRDs and genetic diagnoses in a private tertiary retinal practice in Victoria, Australia. Bookshelf Sharon D, BenYosef T, GoldenbergCohen N, et al. If a genetic test report was available, the following data were collected: testing methodology (NGS, WES, Sanger sequencing, microarray, unknown), clinical grade or research grade testing, and whether the pathogenic or likely pathogenic variant was identified. Holtan JP, Selmer KK, Heimdal KR, Bragadttir R. Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge, Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom, The first inherited retinal disease registry in Iran: research protocol and results of a pilot study, Inherited retinal disease in Norwaya characterization of current clinical and genetic knowledge. Via the Genetic Counseling service, . Younger patients were more likely to receive a molecular diagnosis; with 92% of children under the age of 6 years receiving a conclusive result. A two-stage clinical record review was undertaken by the senior author (HM), followed by two co-first authors experienced in IRD (YJ, SG). Inherited Retinal Disease Sponsored Testing SPARK ID YOUR IRD Test description The Invitae Inherited Retinal Disorders Panel analyzes genes that are associated with inherited retinal disorders including but not limited to retinitis pigmentosa (RP), cone-rod dystrophy, and Leber congenital amaurosis. 2021. A. , Perveen, R. , Hall, G. , Newman, W. G. , Bishop, P. N. , Roberts, S. A. , Leach, R. , Tearle, R. , Bayliss, S. , Ramsden, S. C. , Nemeth, A. H. , & Black, G. C. M. (2016). In addition, the RANZCO guidelines for IRD management,11 which emphasise the importance of genetic testing for a broader group of patients than previously thought beneficial, will change future practice. We expect that the availability of sponsored testing programs and increased awareness relating to the importance of genetic testing will increase uptake of genetic testing in the future. Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. HHS Vulnerability Disclosure, Help For three patients, immediate family members had genetic testing results available. Clin Ophthalmol. The Australian Inherited Retinal Disease Registry and DNA Bank, Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy, Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies. Genetic testing has evolved over the years, allowing case-by-case selection of appropriate molecular testing strategies.16 While Sanger sequencing is typically chosen for suspected monogenic disorders, more advanced methods such as next-generation sequencing (NGS) and whole-exome sequencing (WES) are available for patients with uncertain clinical diagnoses and/or inheritance patterns.16 These novel methods have increased the success rate of IRD genetic testing (defined as identification of at least one pathogenic variation) to between 56% and 76% in most developed countries.14,1719 The success of genetic testing in identifying the disease-causing variant varies depending on patients specific diagnosis,17 age,20 and whether the responsible gene and/or pathogenic variant has been previously identified in IRD patients and/or family members.21 New developments in testing methodology and gene therapy have further highlighted the important role of genetic testing for IRDs. Before Clinical records that did not capture whether genetic testing was ordered or the patients response to genetic testing, were considered not further specified.. This schematic highlights the process of genetic testing of patients with suspected IRDs. Up to 30% of people who get tested for an IRD will get a negative genetic test result. Another Australian-based resource for genetic data on IRD is the Australian Inherited Retinal Disease Register and DNA Biobank (https://www.scgh.health.wa.gov.au/Research/DNA-Bank), which holds the largest collection of DNA samples in Australia. The distribution of IRD phenotypes in our cohort is similar to those reported in Spain,26,27 the US,14,28 the UK,29 Iran,30 and Norway.31 The Australian Inherited Retinal Disease Registry and DNA Bank also reported that retinitis pigmentosa and Stargardt disease are the most common two diagnoses among over 9000 Australian patients.32, Among those who had genetic testing performed, the most common molecular diagnoses were ABCA4, followed by BEST1, USH2A, RHO, RP1, CRB1. Ophthalmic Genet. X-Linked Recessive: Some diseases are X-linked recessive, such as X-linked retinitis pigmentosa. has been shown to improve visual function in children and adults with inherited retinal disease caused by mutations in the RPE65 gene. Inherited Retinal Disease includes one re-requisition within 90 days to genes within the original clinical area. Dockery A, Whelan L, Humphries P, Farrar GJ. This large Australian private practice IRD cohort shows a low uptake of testing (around 10%), reflecting historical management patterns and accessibility of genetic counselling and testing. Exclusion of incomplete patient records and/or incorrect or uncertain clinical diagnoses resulted in 464 patient records in this retrospective study. Documented reasons for absence of genetic test results, n (%). 2021 May 26;22(11):5684. doi: 10.3390/ijms22115684. As the importance of IRD genetic testing continues to increase, we expect to see a change in patient management within the Australian private ophthalmology system and testing rates to increase. Patricio MI, Barnard AR, Xue K, MacLaren RE. Data presented as n, (%). The results show that younger patients and those with a longer duration of care were more likely to have received genetic testing. Dr Lyndell Lim reports grants, personal fees from Bayer, personal fees from Novartis, personal fees from Allergan, outside the submitted work. 2017 Feb;21(2):66-73. doi: 10.1089/gtmb.2016.0251. As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and . Akira, I., Akiko, Y., Akiko, M., Kanako, K., Yasuhiko, H., Yasuo, K., Masayo, K., & Toma, T. (2019). Unable to load your collection due to an error, Unable to load your delegates due to an error, Fundoscopic images from a 60-year-old healthy male with a clinical diagnosis of choroideremia. This article provides a concise overview of genetic testing for inherited retinal diseases or other genetic conditions, by Kari Branham, MS, CGC Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease. Genetic testing is now available to attempt to identify the defective gene causing the RDD in an individual or family. This case series reports the performance of a next-generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD). Available from: Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review, Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing, https://www.scgh.health.wa.gov.au/Research/DNA-Bank, http://creativecommons.org/licenses/by-nc/3.0/, Other Panretinal pigmentary retinopathies. sharing sensitive information, make sure youre on a federal The suspected pattern of inheritance of patients IRD was predominantly autosomal recessive (205, 44.2%), followed by autosomal dominant (60, 12.9%), X-linked (22, 4.7%), and mitochondrial (6, 1.3%). government site. Furthermore, the study constituted a rigorous process of selecting appropriate patients using a two-stage clinical record review by the senior author (HM), followed by an ophthalmology registrar (YJ) and an optometrist experienced in IRD (SG) to assess clinical diagnoses and genetic testing results. These tests give your eye doctor a closer look at the health of your retina. PMC 2021 May 26;22(11):5684. doi: 10.3390/ijms22115684. Careers. Of note, in unsolved cases, the current literature recommends a retest interval of at least 18 months.45. In: StatPearls [Internet]. Sena A. Gocuk and Yuanzhang Jiao are co-first authors, and Lauren N. Ayton and Heather G. Mack are co-senior authors, on this paper. Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S. Int J Mol Sci. Poster presentation: Small CNVs, noncoding, and mitochondrial variants are molecularly diagnostic for 4.7% of pediatric patients with inherited retinal disease Authors: Gall K, Sanchez Navarro I, Hathaway J, Scocchia A, Kmpjrvi K, Knskoski J, von Nandelstadh P, Gandia M, Vattulainen-Collanus S, Mak K . Background: In this study, we aim to investigate the awareness of, attitudes toward, and experiences with diagnostic genetic testing among parents of children suspected of having inherited retinal disease (IRDs) in China. But most importantly, genetic testing allows patients and their families to better understand their condition . 2021 The Authors. To perform the test, a genetic sample is collected using a simple blood draw or saliva sample done in the physician's office or the patient's home. Dont see your province? At this point, they are called genetic variations and they are responsible for everything, from our hair color to our height. The retina is made up of cells that sense and transmit light signals to the brain to form images. Even patients who received negative or inconclusive (variant of uncertain significance) results reported certain informative and psychological benefits. If genetic testing is appropriate for you, your vision care team will apply for this test. Some IRDs, such as choroideremia or X-linked retinoschisis are caused by one or only a small number of genes. What facilitates or impedes family communication following genetic testing for cancer risk? Access to private genetic testing should be discussed with your doctor. Participants: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016. Some patients had multiple genes identified. 206619/Z/17/Z/WT_/Wellcome Trust/United Kingdom, Brezina, P. R. , Brezina, D. S. , & Kearns, W. G. (2012). Inactivation of both alleles at the cellular level results in abnormal activation of genes involved in hypoxia. Retinal Imaging. RP causes cells in the retina to die, causing progressive vision loss. PDF | Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases that cause vision loss due to abnormal. Genes (Basel). A key strength of our study is the relatively large patient cohort, consisting of 464 patients from a single large tertiary ophthalmic practice. Disclaimer, National Library of Medicine Even though there have been great advances in genetics over the past 20 years, many genes that cause IRDs have not been found yet. Keywords: Genetics, Retina Introduction Genes are made from DNA and provide the instructions that the body needs to function. A mutation is a change in a gene (and in the instructions) which can affect how a protein is made and works. Epub 2021 Nov 25. and transmitted securely. No association was found between the sharing of results with family members and the results of genetic testing. Unable to load your collection due to an error, Unable to load your delegates due to an error. Study limitations include the large heterogeneity in patient follow-up duration, ranging from single visits to regular patients attending for up to 27 years. It may help you: Researchers have not identified all the genes that cause IRDs. Received 2021 Dec 13; Accepted 2022 Mar 28. Front Med (Lausanne). Comprehensive rare variant analysis via wholegenome sequencing to determine the molecular pathology of inherited retinal disease. Other diseases can be caused by many different mutations in many different genes. Birch DG, Bennett LD, Duncan JL, Weleber RG, Pennesi ME. Inherited retinal degenerations: current landscape and knowledge gaps. Four hundred and sixty-four patient records were analysed. Genetics and Genetic Testing. The following de-identified information was collected, based only upon information available in the patient record: patient age, gender (female, male, non-binary), duration of care at the practice (months), clinical diagnosis of IRD, suspected mode of inheritance, history of consanguinity, and genetic testing results for the patient and/or family members. BPL has received consultancy fees from Bayer, GenSight Therapeutics, IVERIC Bio, Novartis Pharma International & Belgium, Spark Therapeutics, ProQR Therapeutics, REGENXBIO, and Vedere Bio; has received travel support from GenSight Therapeutics, IVERIC Bio, Novartis Pharma International & Belgium, Spark Therapeutics, and ProQR Therapeutics; and reports an unpaid consultancy with LookoutGTx. CERA receives Operational Infrastructure Support from the Victorian Government. Alongside these developments, genetic testing quality and speed has improved, while costs of testing have reduced. An inherited retinal disease (IRD) is a condition that leads to vision loss and is caused by a specific genetic mutation. Currently, our cohort demonstrates that younger patients with longer duration of care are more likely to have received genetic test results. Unravelling the genetics of inherited retinal dystrophies: Past, present and future. This site needs JavaScript to work properly. The .gov means its official. Depending on the disease you may have blindness or vision loss at birth, or it may occur later in life. -, Hanany M, Rivolta C, Sharon D. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Genes are the basic building blocks of life and heredity. Some changes may spread through the population and become relatively common. Federal government websites often end in .gov or .mil. Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population. Please enable it to take advantage of the complete set of features! Inherited retinal diseases (IRDs) are a group of heterogeneous degenerative retinal conditions estimated to occur in up to 1 in 1000 individuals. Background: This case series reports the performance of a next-generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD). Fundoscopic images from a 60-year-old healthy male with a clinical diagnosis of choroideremia., Funduscopic images from 7-year-old boy with a clinical diagnosis of RPGR -mutated X-linked, Decision tree for case scenarios. Awaiting geneticist and test results indicate patient has been referred for genetic testing, however, has not been seen or has not received results yet. Eligibility for no-cost genetic testing Qualifying patients must: Be clinically diagnosed with one of the inherited retinal degenerative diseases listed below Not have undergone genetic testing with a panel consisting of 32 or more IRD-related genes within the last 3 years Live in the United States or a US territory Listen in to this recorded satellite symposium from the American Academy of Ophthalmology (AAO) annual meeting to hear leading experts discuss diagnostic screening, genetic testing . This should be taken as an indication of historical referral processes, when genetic testing was not key in the management of IRD. It is possible that in the future the variant may be identified in other people or shown to cause an IRD. Learn how your support is helping to bring a future without blindness into focus! Multivariate logistic regression revealed that younger patients (OR: 2.95, p<0.01) and those with duration of care of 12 months or longer (OR: 5.48, p<0.01) are more likely to have had genetic testing performed (Table 2). eCollection 2022. However, some mutations can disrupt the instructions enough that they can cause a disease. Toronto, ON M4W 3P4, Genetic Testing for Inherited Retinal Diseases. . This study was approved by the Human Research Ethics committee of the RANZCO (#124.21) and abided by the Declaration of Helsinki. Careers. FOIA An official website of the United States government. official website and that any information you provide is encrypted Design: Single-center retrospective case series. In 31.8% of the genetic reports, the disease-causing variant was not documented or undetected. 2018;18:807820. official website and that any information you provide is encrypted the display of certain parts of an article in other eReaders. Here, the perception of genetic testing, including its benefits and potential challenges, among patients with IRD was investigated to establish strategies for IRD genetic testing and counseling practices that can meet the requirements of the patients in Japan. Diagnostic yield was 65.9% for the results received. Tracewska AM, Kocya-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jabnska J, Rydzanicz M, Stawiski P, Ciara E, Lipska-Zitkiewicz BS, Khan MI, Cremers FPM, Poski R, Chrzanowska KH. LA is supported by a National Health and Medical Research Council (NHMRC) MRFF Fellowship (MRF# 1151055) and EL2 Investigator Grant (GNT#1195713). Just in the past 10 years alone, nearly 100 new genes related to inherited retinal diseases have been discovered, bringing the total identified to over 270 genes. HHS Vulnerability Disclosure, Help If no genetic test results were available, the status of planned testing was captured (awaiting geneticist, awaiting test results, patient refused, or not further specified). BLL has received research and clinical trial funding from the National Eye Institute, AGTC, Biogen, Editas Medicine, Pixium Vision, and ProQR and consultancy fees from Biogen and ProQR. Both co-first authors are optometry trained with further training in research (MPhil, SG) and medicine (MD, YJ). For example, over 64 genes have been identified that cause retinitis pigmentosa. Bethesda, MD 20894, Web Policies The first sign of RP usually is night blindness. 2022 Jul;89:101029. doi: 10.1016/j.preteyeres.2021.101029. Von Hippel-Lindau disease is inherited in an individual or family Certified genetic Counselors therapeutic modalities necessary, we relied information Of handouts that describe the process starts with careful clinical diagnosis were strongly with! 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inherited retinal disease genetic testing