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Volumn 112, Issue , 2015, Pages 64-71

"It's good to know": Experiences of gene identification and result disclosure in familial epilepsies

Author keywords

Epilepsy; Genetic counselling; Genetic testing; Genetics; Qualitative research

Indexed keywords

ADULT; AGED; ALTRUISM; ARTICLE; AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; CLINICAL ARTICLE; DISEASE SEVERITY; EPILEPSY; FAMILIAL DISEASE; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; HUMAN; INTERPERSONAL COMMUNICATION; INTERVIEW; MALE; MEDICAL DECISION MAKING; PATIENT ATTITUDE; PATIENT PARTICIPATION; PERSONAL EXPERIENCE; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; CLINICAL DECISION MAKING; DAILY LIFE ACTIVITY; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MUTATION; PSYCHOLOGY;

EID: 84926304342     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2015.02.011     Document Type: Article
Times cited : (10)

References (47)
  • 1
    • 49749093443 scopus 로고    scopus 로고
    • BRCA mutation-negative women from hereditary breast and ovarian cancer families: a qualitative study of the BRCA-negative experience
    • Bakos A.D., Hutson S.P., Loud J.T., Peters J.A., Giusti R.M., Greene M.H. BRCA mutation-negative women from hereditary breast and ovarian cancer families: a qualitative study of the BRCA-negative experience. Health Expect. 2008, 11(3):220-231.
    • (2008) Health Expect. , vol.11 , Issue.3 , pp. 220-231
    • Bakos, A.D.1    Hutson, S.P.2    Loud, J.T.3    Peters, J.A.4    Giusti, R.M.5    Greene, M.H.6
  • 2
    • 33750505977 scopus 로고    scopus 로고
    • Using thematic analysis in psychology
    • Braun V., Clarke V. Using thematic analysis in psychology. Qual. Res. Psychol. 2006, 3:77-101.
    • (2006) Qual. Res. Psychol. , vol.3 , pp. 77-101
    • Braun, V.1    Clarke, V.2
  • 3
    • 0037607584 scopus 로고    scopus 로고
    • Ethical dilemmas in testing for late onset conditions: reactions to testing and perceived impact on other family members
    • Chapman E. Ethical dilemmas in testing for late onset conditions: reactions to testing and perceived impact on other family members. J. Genet. Couns. 2002, 11(5):351-367.
    • (2002) J. Genet. Couns. , vol.11 , Issue.5 , pp. 351-367
    • Chapman, E.1
  • 4
    • 17044460752 scopus 로고    scopus 로고
    • Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs
    • Dorval M., Patenaude A.F., Schneider K.A., Kieffer S.A., DiGianni L., Kalkbrenner K.J., et al. Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. J. Clin. Oncol. 2000, 18(10):2135-2142.
    • (2000) J. Clin. Oncol. , vol.18 , Issue.10 , pp. 2135-2142
    • Dorval, M.1    Patenaude, A.F.2    Schneider, K.A.3    Kieffer, S.A.4    DiGianni, L.5    Kalkbrenner, K.J.6
  • 5
    • 29544443699 scopus 로고    scopus 로고
    • I just want to be normal: a qualitative study exploring how children and adolescents view the impact of intractable epilepsy on their quality of life
    • Elliott I.M., Lach L., Smith M.L. I just want to be normal: a qualitative study exploring how children and adolescents view the impact of intractable epilepsy on their quality of life. Epilepsy Behav. 2005, 7:664-678.
    • (2005) Epilepsy Behav. , vol.7 , pp. 664-678
    • Elliott, I.M.1    Lach, L.2    Smith, M.L.3
  • 6
    • 47249119193 scopus 로고    scopus 로고
    • 'They had the right to know.' Genetic risk and perceptions of responsibility
    • Etchegary H., Fowler K. 'They had the right to know.' Genetic risk and perceptions of responsibility. Psychol. Health 2008, 23(6):707-727.
    • (2008) Psychol. Health , vol.23 , Issue.6 , pp. 707-727
    • Etchegary, H.1    Fowler, K.2
  • 7
    • 0030972226 scopus 로고    scopus 로고
    • Developmental tasks of childhood and adolescence: implications for genetic testing
    • Fanos J.H. Developmental tasks of childhood and adolescence: implications for genetic testing. Am. J. Hum. Genet. 1997, 71:22-28.
    • (1997) Am. J. Hum. Genet. , vol.71 , pp. 22-28
    • Fanos, J.H.1
  • 8
    • 0002659062 scopus 로고    scopus 로고
    • Epilepsy from the patient's perspective: review of results of a community-based survey
    • Fisher R.S. Epilepsy from the patient's perspective: review of results of a community-based survey. Epilepsy Behav. 2000, 1(4):S9-S14.
    • (2000) Epilepsy Behav. , vol.1 , Issue.4 , pp. S9-S14
    • Fisher, R.S.1
  • 9
    • 54549096892 scopus 로고    scopus 로고
    • Health first, genetics second: exploring families' experiences of communicating genetic information
    • Forrest L.E., Curnow L., Delatycki M.B., Skene L., Aitken M. Health first, genetics second: exploring families' experiences of communicating genetic information. Eur. J. Hum. Genet. 2008, 16:1329-1335.
    • (2008) Eur. J. Hum. Genet. , vol.16 , pp. 1329-1335
    • Forrest, L.E.1    Curnow, L.2    Delatycki, M.B.3    Skene, L.4    Aitken, M.5
  • 10
    • 0032913338 scopus 로고    scopus 로고
    • Participation in breast cancer susceptibility protocols: influence of recruitment source, altruism, and family involvment on women's decisions
    • Geller G., Doksum T., Bernhardt B., Metz S. Participation in breast cancer susceptibility protocols: influence of recruitment source, altruism, and family involvment on women's decisions. Cancer Epidemiol. Biomark. Prev. 1999, 8(4):377.
    • (1999) Cancer Epidemiol. Biomark. Prev. , vol.8 , Issue.4 , pp. 377
    • Geller, G.1    Doksum, T.2    Bernhardt, B.3    Metz, S.4
  • 11
    • 69849116084 scopus 로고    scopus 로고
    • We only did it because he asked us: gendered accounts of participation in a population genetic data collection
    • Haddow G. We only did it because he asked us: gendered accounts of participation in a population genetic data collection. Soc. Sci. Med. 2009, 69:1010-1017.
    • (2009) Soc. Sci. Med. , vol.69 , pp. 1010-1017
    • Haddow, G.1
  • 13
    • 0037398070 scopus 로고    scopus 로고
    • Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information
    • Hallowell N., Foster C., Eeles R., Ardern-Jones A., Murday V., Watson M. Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J. Med. Ethics 2003, 29:74-83.
    • (2003) J. Med. Ethics , vol.29 , pp. 74-83
    • Hallowell, N.1    Foster, C.2    Eeles, R.3    Ardern-Jones, A.4    Murday, V.5    Watson, M.6
  • 15
    • 0035067488 scopus 로고    scopus 로고
    • A qualitative study of subject recruitment for familial cancer research
    • Kreiger N., Ashbury F., Cotterchio M., Macey J. A qualitative study of subject recruitment for familial cancer research. Ann. Epidemiol. 2001, 11(4):219-224.
    • (2001) Ann. Epidemiol. , vol.11 , Issue.4 , pp. 219-224
    • Kreiger, N.1    Ashbury, F.2    Cotterchio, M.3    Macey, J.4
  • 16
    • 0032916138 scopus 로고    scopus 로고
    • Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis
    • Lafayette D., Abuelo D., Passero M.A., Tantravahi U. Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis. J. Genet. Couns. 1999, 8(1):17-36.
    • (1999) J. Genet. Couns. , vol.8 , Issue.1 , pp. 17-36
    • Lafayette, D.1    Abuelo, D.2    Passero, M.A.3    Tantravahi, U.4
  • 18
    • 3543112175 scopus 로고    scopus 로고
    • Short- and long-term impact of receiving genetic mutation results in women at increased risk for hereditary breast cancer
    • Lim J., Macluran M., Price M., Bennett B., Butow P. Short- and long-term impact of receiving genetic mutation results in women at increased risk for hereditary breast cancer. J. Genet. Couns. 2004, 13(2):115-133.
    • (2004) J. Genet. Couns. , vol.13 , Issue.2 , pp. 115-133
    • Lim, J.1    Macluran, M.2    Price, M.3    Bennett, B.4    Butow, P.5
  • 19
    • 0037224654 scopus 로고    scopus 로고
    • Childhood absence epilepsy and febrile seizures: a family with a GABAa receptor protein
    • Marini C., Harkin L.A., Wallace R.H., Mulley J.C., Scheffer I.E., Berkovic S.F. Childhood absence epilepsy and febrile seizures: a family with a GABAa receptor protein. Brain 2003, 126:230-240.
    • (2003) Brain , vol.126 , pp. 230-240
    • Marini, C.1    Harkin, L.A.2    Wallace, R.H.3    Mulley, J.C.4    Scheffer, I.E.5    Berkovic, S.F.6
  • 20
    • 0032574154 scopus 로고    scopus 로고
    • The new genetics. Psychological responses to genetic testing
    • Marteau T.M., Croyle R.T. The new genetics. Psychological responses to genetic testing. Br. Med. J. 1998, 316(7132):693-696.
    • (1998) Br. Med. J. , vol.316 , Issue.7132 , pp. 693-696
    • Marteau, T.M.1    Croyle, R.T.2
  • 21
    • 77953745081 scopus 로고    scopus 로고
    • Declining prevalence of cystic fibrosis since the introduction of newborn screening
    • Massie J., Curnow L., Gaffney L., Carlin J., Francis I. Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch. Dis. Child. 2010, 95(7):531-533.
    • (2010) Arch. Dis. Child. , vol.95 , Issue.7 , pp. 531-533
    • Massie, J.1    Curnow, L.2    Gaffney, L.3    Carlin, J.4    Francis, I.5
  • 22
    • 70449625708 scopus 로고    scopus 로고
    • Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study
    • (E-publication)
    • McCann S., MacAuley D., Barnett Y., Bunting B., Bradley A., Jeffers L., et al. Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study. Psycho-Oncology 2009, (January). (E-publication).
    • (2009) Psycho-Oncology , Issue.JANUARY
    • McCann, S.1    MacAuley, D.2    Barnett, Y.3    Bunting, B.4    Bradley, A.5    Jeffers, L.6
  • 23
    • 9444246356 scopus 로고    scopus 로고
    • Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer
    • Meiser B., Collins V., Warren R., Gaff C., St John D.J., Young M.A., et al. Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer. Clin. Genet. 2004, 66(6):502-511.
    • (2004) Clin. Genet. , vol.66 , Issue.6 , pp. 502-511
    • Meiser, B.1    Collins, V.2    Warren, R.3    Gaff, C.4    St John, D.J.5    Young, M.A.6
  • 24
    • 53249117184 scopus 로고    scopus 로고
    • Family communication between children and their parents about inherited condition: a meta-synthesis of the research
    • Metcalfe A., Coad J., Plumridge G.M., Gill P., Farndon P. Family communication between children and their parents about inherited condition: a meta-synthesis of the research. Eur. J. Hum. Genet. 2008, 16:1193-1200.
    • (2008) Eur. J. Hum. Genet. , vol.16 , pp. 1193-1200
    • Metcalfe, A.1    Coad, J.2    Plumridge, G.M.3    Gill, P.4    Farndon, P.5
  • 25
    • 84855554037 scopus 로고    scopus 로고
    • Epilepsy patient-participants and genetic research results as answers
    • Namey E.E., Beskow L.M. Epilepsy patient-participants and genetic research results as answers. J. Empir. Res. Hum. Res. Ethics 2011, 6(4):21-29.
    • (2011) J. Empir. Res. Hum. Res. Ethics , vol.6 , Issue.4 , pp. 21-29
    • Namey, E.E.1    Beskow, L.M.2
  • 26
    • 84922023994 scopus 로고    scopus 로고
    • Genetic testing preferences in families containing multiple individuals with epilepsy
    • (Epub ahead of print, 29 September)
    • Okeke J.O., Tangel V.E., Sorge S.T., Hesdorffer D.C., Winawer M.R., Goldsmith J., et al. Genetic testing preferences in families containing multiple individuals with epilepsy. Epilepsia 2014, (Epub ahead of print, 29 September).
    • (2014) Epilepsia
    • Okeke, J.O.1    Tangel, V.E.2    Sorge, S.T.3    Hesdorffer, D.C.4    Winawer, M.R.5    Goldsmith, J.6
  • 27
    • 77951656572 scopus 로고    scopus 로고
    • Genetic testing in the epilepsies. Report of the ILAE genetics commission
    • Ottman R., Hirose S., Jain S., Lerche H., Lopes-Cendes I., Noebels J.L., et al. Genetic testing in the epilepsies. Report of the ILAE genetics commission. Epilepsia 2010, 51(4):655-670.
    • (2010) Epilepsia , vol.51 , Issue.4 , pp. 655-670
    • Ottman, R.1    Hirose, S.2    Jain, S.3    Lerche, H.4    Lopes-Cendes, I.5    Noebels, J.L.6
  • 28
    • 85047682468 scopus 로고    scopus 로고
    • Overemphasis of psychological risks of genetic testing may have dire consequences
    • (author reply 87-88)
    • Palmer S.C., Kagee A., Kruus L., Coyne J.C. Overemphasis of psychological risks of genetic testing may have dire consequences. Psychosomatics 2002, 43(1):86-87. (author reply 87-88).
    • (2002) Psychosomatics , vol.43 , Issue.1 , pp. 86-87
    • Palmer, S.C.1    Kagee, A.2    Kruus, L.3    Coyne, J.C.4
  • 29
    • 38949185759 scopus 로고    scopus 로고
    • Imparting carrier status results detected by universal newborn screening for sickle cell and cystic fibrosis in England: a qualitative study of current practice and policy challenges
    • Parker H., Qureshi N., Ulph F., Kai J. Imparting carrier status results detected by universal newborn screening for sickle cell and cystic fibrosis in England: a qualitative study of current practice and policy challenges. BMC Health Serv. Res. 2007, 7:203.
    • (2007) BMC Health Serv. Res. , vol.7 , pp. 203
    • Parker, H.1    Qureshi, N.2    Ulph, F.3    Kai, J.4
  • 30
    • 67849119411 scopus 로고    scopus 로고
    • The lived experience of initial symptoms of and factors triggering epileptic seizures
    • Pinikanana J., Dono J. The lived experience of initial symptoms of and factors triggering epileptic seizures. Epilepsy Behav. 2009, 15:513-520.
    • (2009) Epilepsy Behav. , vol.15 , pp. 513-520
    • Pinikanana, J.1    Dono, J.2
  • 31
    • 56749091916 scopus 로고    scopus 로고
    • Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research
    • Ponder M., Statham H., Hallowell N., Moon J.A., Richards M., Raymond F.L. Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research. J. Med. Ethics 2008, 34(9):690-694.
    • (2008) J. Med. Ethics , vol.34 , Issue.9 , pp. 690-694
    • Ponder, M.1    Statham, H.2    Hallowell, N.3    Moon, J.A.4    Richards, M.5    Raymond, F.L.6
  • 32
    • 36349014799 scopus 로고    scopus 로고
    • Antenatal screening and the gendering of genetic responsibility
    • Reed K. Antenatal screening and the gendering of genetic responsibility. Reprod. Health 2007, 4:8.
    • (2007) Reprod. Health , vol.4 , pp. 8
    • Reed, K.1
  • 33
    • 36849015437 scopus 로고    scopus 로고
    • 'What really annoys me is people take it like it's a disability', epilepsy. disability and identify among people of Pakistani origin living in the UK
    • Rhodes P.J., Small N.A., Ismail H., Wright J.P. 'What really annoys me is people take it like it's a disability', epilepsy. disability and identify among people of Pakistani origin living in the UK. Ethn. Health 2008, 13(1):1-21.
    • (2008) Ethn. Health , vol.13 , Issue.1 , pp. 1-21
    • Rhodes, P.J.1    Small, N.A.2    Ismail, H.3    Wright, J.P.4
  • 34
    • 0000734313 scopus 로고    scopus 로고
    • Data alive! The thinking behind NVivo
    • Richards L. Data alive! The thinking behind NVivo. Qual. Health Res. 1999, 9(3):412-428.
    • (1999) Qual. Health Res. , vol.9 , Issue.3 , pp. 412-428
    • Richards, L.1
  • 35
    • 67649732906 scopus 로고    scopus 로고
    • Science and society: challenges of translating genetic tests into clinical and public health practice
    • Rogowski W.H., Grosse S.D., Khoury M.J. Science and society: challenges of translating genetic tests into clinical and public health practice. Nat. Rev. Genet. 2009, 10(7):489-495.
    • (2009) Nat. Rev. Genet. , vol.10 , Issue.7 , pp. 489-495
    • Rogowski, W.H.1    Grosse, S.D.2    Khoury, M.J.3
  • 38
    • 84925921483 scopus 로고
    • In the closet with illness: epilepsy, stigma potential and information control
    • Schneider J.W., Conrad P. In the closet with illness: epilepsy, stigma potential and information control. Soc. Probl. 1980, 28(1):32-44.
    • (1980) Soc. Probl. , vol.28 , Issue.1 , pp. 32-44
    • Schneider, J.W.1    Conrad, P.2
  • 39
    • 80051904419 scopus 로고    scopus 로고
    • What's at stake? Genetic information from the perspective of people with epilepsy and their family members
    • Shostak S., Zarhin D., Ottman R. What's at stake? Genetic information from the perspective of people with epilepsy and their family members. Soc. Sci. Med. 2011, 73:645-654.
    • (2011) Soc. Sci. Med. , vol.73 , pp. 645-654
    • Shostak, S.1    Zarhin, D.2    Ottman, R.3
  • 40
    • 2942624355 scopus 로고    scopus 로고
    • Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders
    • Smith C.O., Lipe H.P., Bird T.D. Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. Arch. Neurol. 2004, 61(6):875-880.
    • (2004) Arch. Neurol. , vol.61 , Issue.6 , pp. 875-880
    • Smith, C.O.1    Lipe, H.P.2    Bird, T.D.3
  • 41
    • 0025988204 scopus 로고
    • Seizure frequency, patient-perceived seizure severity and the psychosocial consequences of intractable epilepsy
    • Smith D.F., Baker G.A., Dewey M., Jacoby A., Chadwick D.W. Seizure frequency, patient-perceived seizure severity and the psychosocial consequences of intractable epilepsy. Epilepsy Res. 1991, 9(3):231-241.
    • (1991) Epilepsy Res. , vol.9 , Issue.3 , pp. 231-241
    • Smith, D.F.1    Baker, G.A.2    Dewey, M.3    Jacoby, A.4    Chadwick, D.W.5
  • 42
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R., et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 1995, 11(2):201-203.
    • (1995) Nat. Genet. , vol.11 , Issue.2 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3    Wallace, R.H.4    Phillips, H.A.5    Sutherland, G.R.6
  • 43
    • 43449085188 scopus 로고    scopus 로고
    • Presymptomatic genetic testing in children for neurofibromatosis 2
    • Twomey J.G., Bove C., Cassidy D. Presymptomatic genetic testing in children for neurofibromatosis 2. J. Pediatr. Nurs. 2008, 23(3):183-194.
    • (2008) J. Pediatr. Nurs. , vol.23 , Issue.3 , pp. 183-194
    • Twomey, J.G.1    Bove, C.2    Cassidy, D.3
  • 44
    • 18444409981 scopus 로고    scopus 로고
    • Genetic testing and the family
    • Van Riper M. Genetic testing and the family. J. Midwifery Womens Health 2005, 50(3):227-233.
    • (2005) J. Midwifery Womens Health , vol.50 , Issue.3 , pp. 227-233
    • Van Riper, M.1
  • 45
    • 33947254403 scopus 로고    scopus 로고
    • The psychological impact of a newly diagnosed seizure: losing and restoring perceived control
    • Velissaris S.L., Wilson S.J., Saling M.M., Newton M.R., Berkovic S.F. The psychological impact of a newly diagnosed seizure: losing and restoring perceived control. Epilepsy Behav. 2007, 10:223-233.
    • (2007) Epilepsy Behav. , vol.10 , pp. 223-233
    • Velissaris, S.L.1    Wilson, S.J.2    Saling, M.M.3    Newton, M.R.4    Berkovic, S.F.5
  • 46
    • 0035033520 scopus 로고    scopus 로고
    • Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
    • Wallace R.H., Marini C., Petrou S., Harkin L.A., Bowser D.N., Panchal R.G., et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 2001, 28(1):49-52.
    • (2001) Nat. Genet. , vol.28 , Issue.1 , pp. 49-52
    • Wallace, R.H.1    Marini, C.2    Petrou, S.3    Harkin, L.A.4    Bowser, D.N.5    Panchal, R.G.6
  • 47
    • 80052333832 scopus 로고    scopus 로고
    • Genetics, genomics, and cancer risk assessment state of the art and future directions in the era of personalized medicine
    • Weitzel J.N., Blazer K.R., MacDonald D.J., Culver J.O., Offit K. Genetics, genomics, and cancer risk assessment state of the art and future directions in the era of personalized medicine. CA - Cancer J. Clin. 2011, 61(5):327-359.
    • (2011) CA - Cancer J. Clin. , vol.61 , Issue.5 , pp. 327-359
    • Weitzel, J.N.1    Blazer, K.R.2    MacDonald, D.J.3    Culver, J.O.4    Offit, K.5


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