"To perpetuate blindness!": attitudes of UK patients with inherited retinal disease towards genetic testing.

2.50
Hdl Handle:
http://hdl.handle.net/2436/620616
Title:
"To perpetuate blindness!": attitudes of UK patients with inherited retinal disease towards genetic testing.
Authors:
Potrata, Barbara; McKibbin, Martin; Lim, Jennifer N. W.; Hewison, Jenny
Abstract:
Availability and accuracy of genetic testing in ophthalmology has increased yet the benefits are unclear especially for those conditions where cure or treatments are limited. To explore attitudes to and patients' understanding of possible advantages and disadvantages of genetic testing for inherited retinal disease, we undertook focus groups in three West Yorkshire towns in the UK. Most of our participants had retinitis pigmentosa and one of the focus groups consisted of participants from (British) Asian ethnic background. Here, we report only those attitudes which were common in all three focus groups. Some of the attitudes have already been reported in the literature. Novel findings include attitudes held towards informed choice and life planning, particularly among more severely affected participants. For example, participants appreciated that genetic testing increases informed choice and enables life planning, but these understandings tended to be in a specific sense: informed choice whether to have children and family planning in order to prevent illness recurrence. We conclude that even though these patients are not a homogeneous group, their attitudes tend to be underpinned by deep anxiety of passing their visual impairment onto their children. In this respect, they differ importantly from a small minority of the deaf who would prefer to have children with hearing loss, and from the more general population who do not believe that blindness is a "severe" enough disability to warrant avoiding having children.
Citation:
"To perpetuate blindness!": attitudes of UK patients with inherited retinal disease towards genetic testing. 2014, 5 (3):215-22 J Community Genet
Publisher:
Springer
Journal:
Journal of community genetics
Issue Date:
Jul-2014
URI:
http://hdl.handle.net/2436/620616
DOI:
10.1007/s12687-013-0176-7
PubMed ID:
24366860
Type:
Article
Language:
en
ISSN:
1868-310X
Appears in Collections:
FEHW

Full metadata record

DC FieldValue Language
dc.contributor.authorPotrata, Barbaraen
dc.contributor.authorMcKibbin, Martinen
dc.contributor.authorLim, Jennifer N. W.en
dc.contributor.authorHewison, Jennyen
dc.date.accessioned2017-08-24T15:28:34Z-
dc.date.available2017-08-24T15:28:34Z-
dc.date.issued2014-07-
dc.identifier.citation"To perpetuate blindness!": attitudes of UK patients with inherited retinal disease towards genetic testing. 2014, 5 (3):215-22 J Community Geneten
dc.identifier.issn1868-310X-
dc.identifier.pmid24366860-
dc.identifier.doi10.1007/s12687-013-0176-7-
dc.identifier.urihttp://hdl.handle.net/2436/620616-
dc.description.abstractAvailability and accuracy of genetic testing in ophthalmology has increased yet the benefits are unclear especially for those conditions where cure or treatments are limited. To explore attitudes to and patients' understanding of possible advantages and disadvantages of genetic testing for inherited retinal disease, we undertook focus groups in three West Yorkshire towns in the UK. Most of our participants had retinitis pigmentosa and one of the focus groups consisted of participants from (British) Asian ethnic background. Here, we report only those attitudes which were common in all three focus groups. Some of the attitudes have already been reported in the literature. Novel findings include attitudes held towards informed choice and life planning, particularly among more severely affected participants. For example, participants appreciated that genetic testing increases informed choice and enables life planning, but these understandings tended to be in a specific sense: informed choice whether to have children and family planning in order to prevent illness recurrence. We conclude that even though these patients are not a homogeneous group, their attitudes tend to be underpinned by deep anxiety of passing their visual impairment onto their children. In this respect, they differ importantly from a small minority of the deaf who would prefer to have children with hearing loss, and from the more general population who do not believe that blindness is a "severe" enough disability to warrant avoiding having children.en
dc.language.isoenen
dc.publisherSpringeren
dc.rightsArchived with thanks to Journal of community geneticsen
dc.title"To perpetuate blindness!": attitudes of UK patients with inherited retinal disease towards genetic testing.en
dc.typeArticleen
dc.identifier.journalJournal of community geneticsen
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