Understanding of and attitudes to genetic testing for inherited retinal disease: A patient perspective

British Journal of Ophthalmology

Volumn 97, Issue 9, 2013, Pages 1148-1154

  Willis, T A ^a   Potrata, B ^a   Ahmed, M ^b   Hewison, J ^a   Gale, R ^c   Downey, L ^d   McKibbin, M ^e  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^c YORK HOSPITAL   (United Kingdom)

^d HULL AND EAST YORKSHIRE HOSPITALS NHS TRUST   (United Kingdom)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE; AGED; ARTICLE; ATTITUDE TO ILLNESS; CONTROLLED STUDY; EDUCATIONAL STATUS; EMOTIONALITY; ETHNICITY; FAMILY PLANNING; FAMILY RELATION; FEMALE; GENDER; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; HEALTH CARE ACCESS; HEALTH PRACTITIONER; HUMAN; MAJOR CLINICAL STUDY; MALE; PREDICTION; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; QUESTIONNAIRE; RETINA DISEASE;

GENETICS; RETINA;

ADULT; AGED; ENGLAND; FEMALE; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; MALE; MIDDLE AGED; QUESTIONNAIRES; RETINAL DISEASES;

EID: 84882243202     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2013-303434     Document Type: Article

References (24)

1. Blacharski PA. Fundus flavimaculatus. In: Newsome DA, ed. Retinal dystrophies and degenerations. New York: Raven Press, 1998:135-59.
2. Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet 1980;32:223-35.
3. Koenekoop RK, Lopez I, den Hollander AI, et al. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. Clin Exp Ophthalmol 2007;35:473-85.
4. Pradhan M, Hayes I, Vincent A. An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention. Clin Exp Ophthalmol 2009;37:703-11.
5. Moore T, Burton H. Genetic ophthalmology in focus: a needs assessment and review of specialist services for genetic eye disorders. 2008, April. http://www. phgfoundation.org/reports/4984/ (last accessed February 2013).
6. Bong C, Potrata B, Hewison J, et al. Attitudes of patients and relatives/carers towards genetic testing for inherited retinal disease. Eye 2010;24:1622-5.
7. Douglas HA, Hamilton RJ, Grubs RE. The effect of BRCA gene testing on family relationships: a thematic analysis of qualitative interviews. J Genet Couns 2009;18:418-35.
8. Kasparian NA, Meiser B, Butow PN, et al. Better the devil you know? High-risk individuals' anticipated psychological responses to genetic testing for melanoma susceptibility. J Genet Couns 2006;15:433-47.
9. Condit CM. Public understandings of genetics and health. Clin Genet 2010;77:1-9.
10. Lanie AD, Jayaratne TE, Sheldon JP, et al. Exploring the public understanding of basic genetic concepts. J Genet Couns 2004;13:305-20.
11. Molster C, Charles T, Samanek A, et al. Australian study on public knowledge of human genetics and health. Public Health Genomics 2009;12:84-91.
12. Mezer E, Babul-Hirji R, Wise R, et al. Attitudes regarding predictive testing for retinitis pigmentosa. Ophthalmic Genet 2007;28:9-15.
13. Mezer E, Wygnanski-Jaffe T. Ethical issues in ocular genetics. Curr Opin Ophthalmol 2009;20:382-6.
14. Pawlowitzki IH, Ruther K, Brunsmann F, et al. Acceptability of prenatal diagnosis for retinitis pigmentosa. Lancet 1986;2:1394-5.
15. Sohrab MA, Allikmets R, Guarnaccia MM, et al. Preimplantation genetic diagnosis for stargardt disease. Am J Ophthalmol 2010;149:651-5.e2.
16. Schoenfeld M, Myers RH, Berkman B, et al. Potential impact of a predictive test on the gene frequency of Huntington disease. Am J Med Genet 1984;18:423-9.
17. Decruyenaere M, Evers-Kiebooms G, Boogaerts A, et al. The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. Eur J Hum Genet 2007;15:453-62.
18. Tibben A, Niermeijer MF, Roos RA, et al. Understanding the low uptake of presymptomatic DNA testing for Huntington's disease. Lancet 1992;340:1416.
19. Taylor SD. Predictive genetic test decisions for Huntington's disease: context, appraisal and new moral imperatives. Soc Sci Med 2004;58:137-49.
20. Hamblion EL, Moore AT, Rahi JS, et al. Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK. Br J Ophthalmol 2012;96:360-5.
21. Ahmed S, Ahmed M, Sharif S, et al. Attitudes towards prenatal testing and termination of pregnancy in British Pakistani parents and relatives of children with recessive conditions in the UK. Prenatal Diag 2012;32:954-9.
22. Ahmed S, Hewison J, Green JM, et al. Decisions about testing and termination of pregnancy for different fetal conditions: a qualitative study of European White and Pakistani mothers of affected children. J Genet Couns 2008;17:560-72.
23. Healey DL, Craig JE, Wilkinson CH, et al. Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family. J Glaucoma 2004;13:304-11.
24. Heshka JT, Palleschi C, Howley H, et al. A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genet Med 2008;10:19-32.