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dc.contributor.authorSouzeau, Emmanuelle
dc.contributor.authorGlading, Jodi
dc.contributor.authorKeane, Miriam Claire
dc.contributor.authorRidge, Bronwyn
dc.contributor.authorZhou, Tiger
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorCraig, Jamie E
dc.date.accessioned2016-01-28T02:53:10Z
dc.date.available2016-01-28T02:53:10Z
dc.date.issued2014-01-09
dc.identifier.citationSouzeau E, Glading J, Keane M, Ridge B, Zhou T, Burdon KP, Craig JE. (2014) Predictive genetic testing experience for Myocilin primary open angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma. Genetics in Medicine. 16(7): 558-63en
dc.identifier.issn1098-3600
dc.identifier.urihttp://hdl.handle.net/2328/35897
dc.descriptionAuthor version made available in accordance with publisher copyright policy.en
dc.description.abstractPurpose: Predictive genetic testing of relatives of known myocilin (MYOC) gene mutation carriers is an appropriate strategy to identify individuals at risk for glaucoma. It is likely to prevent irreversible blindness in this high-risk group because this treatable condition might otherwise be diagnosed late. The Australian and New Zealand Registry of Advanced Glaucoma has established genetic testing protocols for known glaucoma genes, including MYOC. Methods: Through the Australian and New Zealand Registry of Advanced Glaucoma, we investigated the experience of 40 unaffected individuals who had undergone predictive genetic testing for MYOC mutations through questionnaires. Results: The main motivations for being tested were (i) to make appropriate interventions and (ii) to reduce uncertainty. All our respondents perceived strong benefits, either medical or emotional, in being tested. However, different concerns were raised by the respondents that need to be addressed during counseling. Greater family awareness was reported by the majority of the respondents, and the ability to provide information to children was a strong motivation for being tested. Conclusion: This study provides valuable information on the personal and familial impacts of having predictive genetic testing for glaucoma, which will help health professionals to better address the issues faced by patients and provide them adequate support.en
dc.language.isoen
dc.publisherNature Publishing Groupen
dc.relationhttp://purl.org/au-research/grants/nhmrc/1023911en
dc.rightsCopyright (2014) © American College of Medical Genetics and Genomicsen
dc.titlePredictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucomaen
dc.typeArticleen
dc.relation.grantnumberNHMRC/1023911en
dc.identifier.doihttps://doi.org/10.1038/gim.2013.196en
dc.rights.holderAmerican College of Medical Genetics and Genomicsen
dc.rights.licenseIn Copyright


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