Dataset Information

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China.

ABSTRACT: 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. METHODS:Semistructured, face-to-face, and in-depth interviews were carried out with parents of children with suspected IRDs in this qualitative study. Inductive content analysis was used for data processing. RESULTS:Forty-six parents participated in our interviews, and 47.8% of them supported genetic testing for following four main reasons: to help in making informed reproductive health decisions, to prepare for novel potential treatment, to identify the underlying causes of IRDs, and to satisfy curiosity about the heredity of IRDs. Among them, 19.6% were opposed to the testing for four main reasons, namely lack of therapeutic benefit, difficulty in affording the testing cost, doubt in the accuracy of clinical diagnosis, and the presence of concerns about the limitations of genetic testing. 47.8% of the parents expressed concerns that the genetic findings might lead to potential psychological stress. CONCLUSION:In this study, we showed that nearly half of the parents supported genetic testing mainly for family planning, and a fifth of the parents were opposed to the testing mainly for lack of therapeutic benefit. Moreover, half of the parents expressed concern that a positive genetic result may create potential psychological burden to the parents and children.

SUBMITTER: Zhang Y

PROVIDER: S-EPMC6732314 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China.

Zhang Yu Y Wang Zhirong Z Huang Sijian S Sun Limei L Zhao Shiying S Zhong Yimin Y Xiao Huiming H Ding Xiaoyan X

Molecular genetics & genomic medicine 20190801 9

<h4>Background</h4>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.<h4>Methods</h4>Semistructured, face-to-face, and in-depth interviews were carried out with parents of children with suspected IRDs in this qualitative study. Inductive content analysis was used for data processing.<h4>Results</h4>Forty-six parents participated in our int ...[more]

PMID: 31373165

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Project description:PurposeThe clinical features of autoimmune retinopathy (AIR) can resemble and be difficult to differentiate from inherited retinal degenerations (IRDs). Misdiagnosis of an IRD as AIR causes unnecessary treatment with immunosuppressive agents. The purpose of this study is to calculate the predictive value of genetic testing for IRDs in patients with suspected AIR and provide clinical examples where genetic testing has been useful.MethodsWe identified patients seen at MEEI between April 2013 and January 2017 for whom the differentiation of AIR vs. IRDs was difficult based on clinical assessment alone. All patients had some atypical features for AIR, but tested positive for anti-retinal antibodies. Within this group, we identified six patients who had genetic testing for IRDs with the Genetic Eye Disease panel for retinal genes (GEDi-R). We calculated the positive predictive value (PPV) and negative predictive value (NPV) of genetic testing in a population with approximately equal numbers of IRD and AIR patients.ResultsSix patients had clinical features that made distinguishing between IRDs and AIR on a clinical basis difficult and were sent for genetic testing: four women and two men with a mean age of 59.5 years. In two of these six patients, genetic diagnoses were made based upon the identification of known pathogenic variants in the common IRD genes USH2A and RHO. Two patients had variants of unknown significance within genes associated with IRDs, and the other two had no relevant genetic findings. Given the 60% sensitivity and 3% false positive rate for GEDi-R testing and assuming a 50% pre-test probability of having an IRD, the PPV for GEDi-R for detecting IRD is 95.2% and the NPV is 70.8%.Conclusions and importanceIn patients for whom the differential diagnosis of AIR and IRDs is unclear based on clinical information, genetic testing can be a valuable tool when it identifies an IRD, sparing the patient unnecessary immunosuppressive treatment. However, the test has a low NPV so a negative genetic testing result does not confidently exclude IRD as the true diagnosis.

Dataset Information

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China.

Publications

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China.

Similar Datasets

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