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Volumn 8, Issue 8, 2006, Pages 502-509

Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a multi-ethnic society

Author keywords

Ancestry; Cystic fibrosis; Decisional instrument; Hemoglobinopathies; Screening

Indexed keywords

ADULT; ARTICLE; CYSTIC FIBROSIS; DECISION MAKING; ETHNIC DIFFERENCE; FALSE NEGATIVE RESULT; FEMALE; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HEMOGLOBINOPATHY; HUMAN; MALE; NETHERLANDS; OUTCOME ASSESSMENT; QUESTIONNAIRE; SELF REPORT;

EID: 33747269384     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000232461.11153.9a     Document Type: Article
Times cited : (17)

References (31)
  • 1
    • 0027180368 scopus 로고
    • The thalassemia syndromes
    • Higgs DR. The thalassemia syndromes. Q J Med 1993;86:559-564.
    • (1993) Q J Med , vol.86 , pp. 559-564
    • Higgs, D.R.1
  • 4
    • 3042803840 scopus 로고    scopus 로고
    • Is cascade testing a sensible method of screening a population for autosomal recessive disorders?
    • Morris JK, Law MR, Wald NJ. Is cascade testing a sensible method of screening a population for autosomal recessive disorders? Am J Med Genet A 2004;128:271-275.
    • (2004) Am J Med Genet A , vol.128 , pp. 271-275
    • Morris, J.K.1    Law, M.R.2    Wald, N.J.3
  • 5
    • 0037211592 scopus 로고    scopus 로고
    • The feasibility of using ethnicity as a primary tool for antenatal selective screening for sickle cell disorders: Pointers from the research evidence
    • Aspinall PJ, Dyson SM, Anionwu EN. The feasibility of using ethnicity as a primary tool for antenatal selective screening for sickle cell disorders: pointers from the research evidence. Soc Sci Med 2003;56:285-297.
    • (2003) Soc Sci Med , vol.56 , pp. 285-297
    • Aspinall, P.J.1    Dyson, S.M.2    Anionwu, E.N.3
  • 6
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations- Correlation with incidence data and application to screening
    • Bobadilla JL, Macek M, Jr., Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations- correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek Jr., M.2    Fine, J.P.3    Farrell, P.M.4
  • 7
    • 16644402107 scopus 로고    scopus 로고
    • Assessing ethnicity in preconception counseling: Genetics-what nurse practitioners need to know
    • Edwards QT, Seibert D, Macri C, Covington C, et al. Assessing ethnicity in preconception counseling: genetics-what nurse practitioners need to know. J Am Acad Nurse Pract 2004;16:472-480.
    • (2004) J Am Acad Nurse Pract , vol.16 , pp. 472-480
    • Edwards, Q.T.1    Seibert, D.2    Macri, C.3    Covington, C.4
  • 8
    • 0030754623 scopus 로고    scopus 로고
    • Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
    • The Biomed CF Mutation Analysis Consortium
    • Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997;10:135-154.
    • (1997) Hum Mutat , vol.10 , pp. 135-154
    • Estivill, X.1    Bancells, C.2    Ramos, C.3
  • 9
    • 0000948931 scopus 로고    scopus 로고
    • Public and Professional Policy Committee (PPPC) Population genetic screening programmes: Proposed recommendations of the European Society of Hum Genet
    • Eurogappp. EUROGAPPP PROJECT 1999-2000
    • Eurogappp. EUROGAPPP PROJECT 1999-2000. Public and Professional Policy Committee (PPPC) Population genetic screening programmes: Proposed recommendations of the European Society of Hum Genet Eur J Hum Genet 2000;8:998-1000.
    • (2000) Eur J Hum Genet , vol.8 , pp. 998-1000
  • 10
    • 0035746363 scopus 로고    scopus 로고
    • Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
    • Grody WW, Cutting GR, Klinger KW, Richards CS, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-154.
    • (2001) Genet Med , vol.3 , pp. 149-154
    • Grody, W.W.1    Cutting, G.R.2    Klinger, K.W.3    Richards, C.S.4
  • 11
    • 0033123527 scopus 로고    scopus 로고
    • Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference
    • Haddow JE, Bradley LA, Palomaki GE, Doherty RA, et al. Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet Med 1999;1:129-135.
    • (1999) Genet Med , vol.1 , pp. 129-135
    • Haddow, J.E.1    Bradley, L.A.2    Palomaki, G.E.3    Doherty, R.A.4
  • 12
    • 0029019611 scopus 로고
    • Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel
    • Kerem E, Kalman YM, Yahav Y, Shoshani T, et al. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum Genet 1995;96:193-197.
    • (1995) Hum Genet , vol.96 , pp. 193-197
    • Kerem, E.1    Kalman, Y.M.2    Yahav, Y.3    Shoshani, T.4
  • 14
    • 0031855380 scopus 로고    scopus 로고
    • Global epidemiology of hemoglobin disorders
    • Angastiniotis M, Modell B. Global epidemiology of hemoglobin disorders. Ann N Y Acad Sci 1998;850:251-269.
    • (1998) Ann N Y Acad Sci , vol.850 , pp. 251-269
    • Angastiniotis, M.1    Modell, B.2
  • 15
    • 0034889014 scopus 로고    scopus 로고
    • Inherited haemoglobin disorders: An increasing global health problem
    • Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 2001;79:704-712.
    • (2001) Bull World Health Organ , vol.79 , pp. 704-712
    • Weatherall, D.J.1    Clegg, J.B.2
  • 16
    • 0035693480 scopus 로고    scopus 로고
    • Cystic fibrosis carrier screening: Steps in the development of a mutation panel
    • Gilbert F. Cystic fibrosis carrier screening: steps in the development of a mutation panel. Genet Test 2001;5:223-227.
    • (2001) Genet Test , vol.5 , pp. 223-227
    • Gilbert, F.1
  • 17
    • 0026643912 scopus 로고
    • The stigma of disease: Implications of genetic screening
    • Markel H. The stigma of disease: implications of genetic screening. Am J Med 1992;93:209-215.
    • (1992) Am J Med , vol.93 , pp. 209-215
    • Markel, H.1
  • 18
    • 0036133168 scopus 로고    scopus 로고
    • Some ethical and design challenges of screening programs and screening tests
    • McQueen MJ. Some ethical and design challenges of screening programs and screening tests. Clin Chim Acta 2002;315:41-48.
    • (2002) Clin Chim Acta , vol.315 , pp. 41-48
    • McQueen, M.J.1
  • 19
    • 0038498375 scopus 로고    scopus 로고
    • Determination of ethnicity in children in the Netherlands: Two methods compared
    • Bouwhuis CB, Moll HA. Determination of ethnicity in children in The Netherlands: two methods compared. Eur J Epidemiol 2003;18:385-388.
    • (2003) Eur J Epidemiol , vol.18 , pp. 385-388
    • Bouwhuis, C.B.1    Moll, H.A.2
  • 20
    • 0033401410 scopus 로고    scopus 로고
    • An assessment of the Nam Pehchan computer program for the identification of names of south Asian ethnic origin
    • Cummins C, Winter H, Cheng KK, Maric R, et al. An assessment of the Nam Pehchan computer program for the identification of names of south Asian ethnic origin. J Public Health Med 1999;21:401-406.
    • (1999) J Public Health Med , vol.21 , pp. 401-406
    • Cummins, C.1    Winter, H.2    Cheng, K.K.3    Maric, R.4
  • 21
    • 23944473596 scopus 로고    scopus 로고
    • An algorithm to construct genetically similar subsets of families with the use of self-reported ethnicity information
    • Skol AD, Xiao R, Boehnke M. An algorithm to construct genetically similar subsets of families with the use of self-reported ethnicity information. Am J Hum Genet 2005;77:346-354.
    • (2005) Am J Hum Genet , vol.77 , pp. 346-354
    • Skol, A.D.1    Xiao, R.2    Boehnke, M.3
  • 22
    • 4243835318 scopus 로고    scopus 로고
    • Genetic haematological disorders
    • Wald NJ, Leck I (eds): New York: Oxford University Press
    • Weatherall DJ, Letsky EA. Genetic haematological disorders. In, Wald NJ, Leck I (eds): Antenatal and neonatal screening. New York: Oxford University Press, 2000;243-281.
    • (2000) Antenatal and Neonatal Screening , pp. 243-281
    • Weatherall, D.J.1    Letsky, E.A.2
  • 23
    • 33747283463 scopus 로고    scopus 로고
    • Groningen; The Netherlands, Wolters-Noordhoff Atlas Productions
    • Wolters-Noordhoff. Wolters-Noordhoff WERELD@TLAS. 1999. Groningen; The Netherlands, Wolters-Noordhoff Atlas Productions.
    • (1999) Wolters-Noordhoff WERELD@TLAS
    • Wolters-Noordhoff1
  • 24
    • 33747298953 scopus 로고    scopus 로고
    • Voorburg/Heerlen, the Netherlands
    • CBS. Statistics Netherlands. Population statistics, 2006. Voorburg/Heerlen, the Netherlands. Available at: http://www.cbs.nl. Accessed on June 29, 2006.
    • (2006) Statistics Netherlands. Population Statistics
  • 25
    • 0022616659 scopus 로고
    • Inherited disorders in the black population of southern Africa. Part I. Historical and demographic background; genetic haematological conditions
    • Beighton P, Botha MC. Inherited disorders in the black population of southern Africa. Part I. Historical and demographic background; genetic haematological conditions. S Afr Med J 1986;69:247-249.
    • (1986) S Afr Med J , vol.69 , pp. 247-249
    • Beighton, P.1    Botha, M.C.2
  • 26
    • 0023255710 scopus 로고
    • Inherited haemoglobin variants in a South African population
    • Bird AR, Ellis P, Wood K, Mathew C, et al Inherited haemoglobin variants in a South African population. J Med Genet 1987;24:215-219.
    • (1987) J Med Genet , vol.24 , pp. 215-219
    • Bird, A.R.1    Ellis, P.2    Wood, K.3    Mathew, C.4
  • 27
    • 14844336906 scopus 로고    scopus 로고
    • Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis
    • Ahn KM, Park HY, Lee JH, Lee MG, et al. Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis. J Korean Med Sci 2005;20:153-157.
    • (2005) J Korean Med Sci , vol.20 , pp. 153-157
    • Ahn, K.M.1    Park, H.Y.2    Lee, J.H.3    Lee, M.G.4
  • 28
    • 14844317302 scopus 로고    scopus 로고
    • Asians with cystic fibrosis in the UK have worse disease outcomes than clinic matched white homozygous delta F508 controls
    • McCormick J, Ogston SA, Sims EJ, Mehta A. Asians with cystic fibrosis in the UK have worse disease outcomes than clinic matched white homozygous delta F508 controls. J Cyst Fibros 2005;4:53-58.
    • (2005) J Cyst Fibros , vol.4 , pp. 53-58
    • McCormick, J.1    Ogston, S.A.2    Sims, E.J.3    Mehta, A.4
  • 29
    • 22044442978 scopus 로고    scopus 로고
    • Variations of the CFTR gene in the Hanoi-Vietnamese
    • Nam MH, Hijikata M, Tuan lA, Lien LT, et al Variations of the CFTR gene in the Hanoi-Vietnamese. Am J Med Genet A 2005;136:249-253.
    • (2005) Am J Med Genet A , vol.136 , pp. 249-253
    • Nam, M.H.1    Hijikata, M.2    Tuan, L.A.3    Lien, L.T.4
  • 30
    • 0033913365 scopus 로고    scopus 로고
    • Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings
    • Wu CL, Shu SG, Zielenski J, Chiang CD, et al. Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings. J Formos Med Assoc 2000;99:564-567.
    • (2000) J Formos Med Assoc , vol.99 , pp. 564-567
    • Wu, C.L.1    Shu, S.G.2    Zielenski, J.3    Chiang, C.D.4
  • 31
    • 0142094694 scopus 로고    scopus 로고
    • Attitudinal barriers to delivery of race-targeted pharmacogenomics among informed lay persons
    • Condit C, Templeton A, Bates BR, Bevan JL, et al. Attitudinal barriers to delivery of race-targeted pharmacogenomics among informed lay persons. Genet Med 2003;5:385-392.
    • (2003) Genet Med , vol.5 , pp. 385-392
    • Condit, C.1    Templeton, A.2    Bates, B.R.3    Bevan, J.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.