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Volumn 9, Issue 10, 2007, Pages 675-681

Defining purpose: A key step in genetic test evaluation

Author keywords

[No Author keywords available]

Indexed keywords

DIAGNOSTIC PROCEDURE; FUNDING; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEALTH CARE; HEALTH SERVICE; HUMAN; MEDICAL DECISION MAKING; MEDICAL INFORMATION; MORBIDITY; MORTALITY; NOTE; ONCOGENE; OUTCOME ASSESSMENT; PHENYLKETONURIA; PRACTICE GUIDELINE;

EID: 37349055390     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318156e45b     Document Type: Note
Times cited : (24)

References (45)
  • 1
    • 34548282259 scopus 로고    scopus 로고
    • The evaluation of genetic tests
    • Zimmern R, Kroese M. The evaluation of genetic tests. J Public Health. 2007;29: 246-250.
    • (2007) J Public Health , vol.29 , pp. 246-250
    • Zimmern, R.1    Kroese, M.2
  • 2
    • 0003445355 scopus 로고    scopus 로고
    • Secretary's Advisory Committee on Genetic Testing, July, National Institutes of Health NIH, Available at: Accessed June 15
    • Secretary's Advisory Committee on Genetic Testing. Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT, July 2000. National Institutes of Health (NIH). Available at: http://www4.od.nih.gov/oba/sacgt/ reports/oversight_report.pdf Accessed June 15, 2007.
    • (2000) Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT
  • 3
    • 0037103382 scopus 로고    scopus 로고
    • Genetic test evaluation: Information needs of clinicians, policy-makers and the public
    • Burke W, Atkins D, Gwinn M, Guttmacher A, et al. Genetic test evaluation: information needs of clinicians, policy-makers and the public. Am J Epidemiol 2002;156: 311-318.
    • (2002) Am J Epidemiol , vol.156 , pp. 311-318
    • Burke, W.1    Atkins, D.2    Gwinn, M.3    Guttmacher, A.4
  • 4
    • 20444374342 scopus 로고    scopus 로고
    • ACCE: A model process for evaluating data on emerging genetic tests
    • Khoury M, Little J, Burke W, editors, Oxford: Oxford University Press
    • Haddow J, Palomaki G. ACCE: a model process for evaluating data on emerging genetic tests. In: Khoury M, Little J, Burke W, editors. Human genome epidemiology. Oxford: Oxford University Press, 2004:217-233.
    • (2004) Human genome epidemiology , pp. 217-233
    • Haddow, J.1    Palomaki, G.2
  • 5
    • 9644289528 scopus 로고    scopus 로고
    • Genetic tests and their evaluation: Can we answer the key questions?
    • Kroese M, Zimmern RL, Sanderson S. Genetic tests and their evaluation: can we answer the key questions? Genet Med 2004;6:475-480.
    • (2004) Genet Med , vol.6 , pp. 475-480
    • Kroese, M.1    Zimmern, R.L.2    Sanderson, S.3
  • 6
    • 37349095892 scopus 로고    scopus 로고
    • Evaluation of genomic applications in practice and prevention (EGAPP): Implementation and evaluation of a model approach
    • National Office of Public Health Genomics, Available at: Accessed June 15
    • National Office of Public Health Genomics. Evaluation of genomic applications in practice and prevention (EGAPP): implementation and evaluation of a model approach. Centers for Disease Control and Prevention (CDC). Available at: http://www.cdc.gov/genomics/gtesting/egapp.htm Accessed June 15, 2007.
    • (2007) Centers for Disease Control and Prevention (CDC)
  • 9
    • 0034790129 scopus 로고    scopus 로고
    • National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics 2001; 108:972-982.
    • National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics 2001; 108:972-982.
  • 10
    • 24944531368 scopus 로고    scopus 로고
    • Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A
    • Skinner MA, Moley JA, Dilley WG, Owzar K, et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 2005;353:1105-1113.
    • (2005) N Engl J Med , vol.353 , pp. 1105-1113
    • Skinner, M.A.1    Moley, J.A.2    Dilley, W.G.3    Owzar, K.4
  • 11
    • 37349058858 scopus 로고    scopus 로고
    • Lindor NM, Peterson GM, Hadley DW, Kinney AY, et al. Recommendations for the care of individuals with an inherited predisposition to cancer: Lynch syndrome (hereditary nonpolyposis colorectal cancer). JAMA 2006;296:15-7-17.
    • Lindor NM, Peterson GM, Hadley DW, Kinney AY, et al. Recommendations for the care of individuals with an inherited predisposition to cancer: Lynch syndrome (hereditary nonpolyposis colorectal cancer). JAMA 2006;296:15-7-17.
  • 12
    • 0033938317 scopus 로고    scopus 로고
    • Surveillance improves survival of colorectal cancer in patients with hereditary nonpolyposis colorectal cancer
    • Renkonen-Sinisalo L, Aarnio M, Mecklin JP, Jarvinen HJ. Surveillance improves survival of colorectal cancer in patients with hereditary nonpolyposis colorectal cancer. Cancer Detect Prev 2000;24:137-142.
    • (2000) Cancer Detect Prev , vol.24 , pp. 137-142
    • Renkonen-Sinisalo, L.1    Aarnio, M.2    Mecklin, J.P.3    Jarvinen, H.J.4
  • 13
    • 33646775349 scopus 로고    scopus 로고
    • The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update
    • Grosse S, Khoury MJ, Greene CL, Crider KS, et al. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med 2006;8:205-212.
    • (2006) Genet Med , vol.8 , pp. 205-212
    • Grosse, S.1    Khoury, M.J.2    Greene, C.L.3    Crider, K.S.4
  • 14
    • 21144448879 scopus 로고    scopus 로고
    • Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose
    • Rieder MJ, Reiner AP, Gage BF, Nickerson DA, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005;352:2285-2293.
    • (2005) N Engl J Med , vol.352 , pp. 2285-2293
    • Rieder, M.J.1    Reiner, A.P.2    Gage, B.F.3    Nickerson, D.A.4
  • 15
    • 0037012465 scopus 로고    scopus 로고
    • Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy
    • Higashi MK, Veenstra DL, Kondo LM, Wittkowsky AK, et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. JAMA 2002;287:1690-1698.
    • (2002) JAMA , vol.287 , pp. 1690-1698
    • Higashi, M.K.1    Veenstra, D.L.2    Kondo, L.M.3    Wittkowsky, A.K.4
  • 16
    • 1842423445 scopus 로고    scopus 로고
    • Genetic testing for cardiovascular disease susceptibility: A useful clinical management tool or possible misinformation?
    • Humphries SE, Ridker PM, Talmud PJ. Genetic testing for cardiovascular disease susceptibility: a useful clinical management tool or possible misinformation? Arterioscler Thromb Vasc Biol 2004;24:628-636.
    • (2004) Arterioscler Thromb Vasc Biol , vol.24 , pp. 628-636
    • Humphries, S.E.1    Ridker, P.M.2    Talmud, P.J.3
  • 17
    • 33645509725 scopus 로고    scopus 로고
    • Genetic variants predisposing to cardiovascular disease
    • Visvikis-Siest S, Marteau JB. Genetic variants predisposing to cardiovascular disease. Curr Opin Lipidol 2006;17:139-151.
    • (2006) Curr Opin Lipidol , vol.17 , pp. 139-151
    • Visvikis-Siest, S.1    Marteau, J.B.2
  • 18
    • 32544451924 scopus 로고    scopus 로고
    • Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    • Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 2006; 38:320-323.
    • (2006) Nat Genet , vol.38 , pp. 320-323
    • Grant, S.F.1    Thorleifsson, G.2    Reynisdottir, I.3    Benediktsson, R.4
  • 19
    • 33847022334 scopus 로고    scopus 로고
    • Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes
    • Willer CJ, Bonnycastle LL, Conneely KN, Duren WL, et al. Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes 2007;56:256-264.
    • (2007) Diabetes , vol.56 , pp. 256-264
    • Willer, C.J.1    Bonnycastle, L.L.2    Conneely, K.N.3    Duren, W.L.4
  • 20
    • 84860735272 scopus 로고    scopus 로고
    • GeneReview, Available at: Accessed June 15
    • Darras BT, Korf BR, Urion DK. Dystrophinopathies (GeneReview) 2005. Available at: http://www.genetests.org/servlet/access?id=8888891&db= genetests&fcn= y&dontshowglossarylinks=yes&key= PR8mDHf6q6M3E&filename=/profiles/dbmd/index.html Accessed June 15, 2007.
    • (2005) Dystrophinopathies
    • Darras, B.T.1    Korf, B.R.2    Urion, D.K.3
  • 21
    • 67649470969 scopus 로고    scopus 로고
    • GeneReview, Available at: Accessed June 15
    • Pagon RA, Daiger SP. Retinitis pigmentosa overview (GeneReview) 2005. Available at: http://www.genetests.org/servlet/access?db=geneclinics&site= gt&id=8888891&key=PR8mDHf6q6M3E&gry=&fcn=y&fw= eV34&filename=/profiles/rp-overview/index.html Accessed June 15, 2007.
    • (2005) Retinitis pigmentosa overview
    • Pagon, R.A.1    Daiger, S.P.2
  • 22
    • 85136404476 scopus 로고    scopus 로고
    • Statement on use of apolipoprotein E testing for Alzheimer disease. American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer disease. JAMA 1995;274:1627-1629.
    • Statement on use of apolipoprotein E testing for Alzheimer disease. American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer disease. JAMA 1995;274:1627-1629.
  • 23
    • 0032965722 scopus 로고    scopus 로고
    • Genetic testing and Alzheimer disease: Recommendations of the stanford program in genomics, ethics, and society
    • McConnell LM, Koenig BA, Greely HT, Raffin TA. Genetic testing and Alzheimer disease: recommendations of the stanford program in genomics, ethics, and society. Genet Test 1999;3:3-12.
    • (1999) Genet Test , vol.3 , pp. 3-12
    • McConnell, L.M.1    Koenig, B.A.2    Greely, H.T.3    Raffin, T.A.4
  • 24
    • 0001547777 scopus 로고    scopus 로고
    • The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective
    • Post SG, Whitehouse PJ, Binstock RH, Bird TD, et al. The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. JAMA 1997;277:832-836.
    • (1997) JAMA , vol.277 , pp. 832-836
    • Post, S.G.1    Whitehouse, P.J.2    Binstock, R.H.3    Bird, T.D.4
  • 25
    • 3442890962 scopus 로고    scopus 로고
    • Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial
    • Roberts JS, Barber M, Brown TM, Cupples LA, et al. Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial. Genet Med 2004;6:197-203.
    • (2004) Genet Med , vol.6 , pp. 197-203
    • Roberts, J.S.1    Barber, M.2    Brown, T.M.3    Cupples, L.A.4
  • 26
    • 0037230622 scopus 로고    scopus 로고
    • Inherited disorders of bilirubin metabolism
    • Bosma PJ. Inherited disorders of bilirubin metabolism. J Hepatol 2003;38:107-117.
    • (2003) J Hepatol , vol.38 , pp. 107-117
    • Bosma, P.J.1
  • 27
    • 37349000528 scopus 로고    scopus 로고
    • Parents as partners
    • Available at: Accessed June 15
    • Gogarty B. Parents as partners. Cambridge Genetics Knowledge Park, 2005. Available at: http://www.phgfoundation.org/pages/serviceprojects.htm#ld Accessed June 15, 2007.
    • (2007) Cambridge Genetics Knowledge Park, 2005
    • Gogarty, B.1
  • 28
    • 22444442033 scopus 로고    scopus 로고
    • Just deliberation about health care
    • Danis M, Clancy C, Churchill LR, editors, New York: Oxford University Press
    • Gutmann A, Thompson D. Just deliberation about health care. In: Danis M, Clancy C, Churchill LR, editors. Ethical dimensions of health policy. New York: Oxford University Press, 2002.
    • (2002) Ethical dimensions of health policy
    • Gutmann, A.1    Thompson, D.2
  • 30
    • 0034434840 scopus 로고    scopus 로고
    • Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model
    • Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000;159:S192-S195.
    • (2000) Eur J Pediatr , vol.159
    • Kaback, M.M.1
  • 32
    • 33745041941 scopus 로고    scopus 로고
    • Weil J, Ormond K, Peters J, Peters K, et al. The relationship of non-directiveness to genetic counseling: report of a workshop at the 2003 NGSC annual education conference. J Genet Couns 2006;15:85-94.
    • Weil J, Ormond K, Peters J, Peters K, et al. The relationship of non-directiveness to genetic counseling: report of a workshop at the 2003 NGSC annual education conference. J Genet Couns 2006;15:85-94.
  • 33
    • 0030803565 scopus 로고    scopus 로고
    • Why women say yes to prenatal diagnosis
    • Press N, Browner CH. Why women say yes to prenatal diagnosis. Soc Sci Med 1997; 45:979-989.
    • (1997) Soc Sci Med , vol.45 , pp. 979-989
    • Press, N.1    Browner, C.H.2
  • 34
    • 0037222951 scopus 로고    scopus 로고
    • Disability rights critique of prenatal genetic testing: Reflections and recommendations
    • Parens E, Asch A. Disability rights critique of prenatal genetic testing: reflections and recommendations. Ment Retard Dev Disabil Res Rev 2003;9:40-47.
    • (2003) Ment Retard Dev Disabil Res Rev , vol.9 , pp. 40-47
    • Parens, E.1    Asch, A.2
  • 35
    • 28444435859 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis and screening
    • Kearns WG, Pen R, Graham J, Han T, et al. Preimplantation genetic diagnosis and screening. Semin Reprod Med 2005;23:336-347.
    • (2005) Semin Reprod Med , vol.23 , pp. 336-347
    • Kearns, W.G.1    Pen, R.2    Graham, J.3    Han, T.4
  • 36
    • 33746903583 scopus 로고    scopus 로고
    • Preimplantation diagnosis for genetic susceptibility
    • Braude P. Preimplantation diagnosis for genetic susceptibility. N Engl J Med 2006; 355:541-543.
    • (2006) N Engl J Med , vol.355 , pp. 541-543
    • Braude, P.1
  • 37
    • 1842868418 scopus 로고    scopus 로고
    • Issues and concerns of couples presenting for preimplantation genetic diagnosis (PGD)
    • Katz MG, Fitzgerald L, Bankeir A, Savulescu J, et al. Issues and concerns of couples presenting for preimplantation genetic diagnosis (PGD). Prenat Diagn 2002; 22: 1117-1122.
    • (2002) Prenat Diagn , vol.22 , pp. 1117-1122
    • Katz, M.G.1    Fitzgerald, L.2    Bankeir, A.3    Savulescu, J.4
  • 38
    • 37349111721 scopus 로고    scopus 로고
    • GeneReview, Available at: Accessed June 15
    • Haigh B, Huk M, Hayden MR. Huntington disease (GeneReview) 2005. Available at: http://www.genetests.org/servlet/access?db=geneclinics&site= gt&id=8888891&key=PR8mDHf6q6M3E&gry=&fcn=y&fw= ZnUi&filename=/profiles/huntington/index.html Accessed June 15, 2007.
    • (2005) Huntington disease
    • Haigh, B.1    Huk, M.2    Hayden, M.R.3
  • 39
    • 1442357145 scopus 로고    scopus 로고
    • Factor V Leiden and the risk for venous thromboembolism in the adult Danish population
    • Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med 2004;140:330-337.
    • (2004) Ann Intern Med , vol.140 , pp. 330-337
    • Juul, K.1    Tybjaerg-Hansen, A.2    Schnohr, P.3    Nordestgaard, B.G.4
  • 40
    • 0035693005 scopus 로고    scopus 로고
    • Application of population screening principles to genetic screening for adult-onset conditions
    • Burke W, Coughlin SS, Lee NC, Weed DL, et al. Application of population screening principles to genetic screening for adult-onset conditions. Genet Test 2001;5:201-211.
    • (2001) Genet Test , vol.5 , pp. 201-211
    • Burke, W.1    Coughlin, S.S.2    Lee, N.C.3    Weed, D.L.4
  • 41
    • 33847157342 scopus 로고    scopus 로고
    • Genetic ophthalmology and the era of clinical care
    • Sieving PA, Collins FS. Genetic ophthalmology and the era of clinical care. JAMA 2007;297:733-736.
    • (2007) JAMA , vol.297 , pp. 733-736
    • Sieving, P.A.1    Collins, F.S.2
  • 42
    • 33846037715 scopus 로고    scopus 로고
    • A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors
    • Schaumberg DA, Hankinson SE, Guo Q, Rimm E, et al. A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol 2007;125:55-62.
    • (2007) Arch Ophthalmol , vol.125 , pp. 55-62
    • Schaumberg, D.A.1    Hankinson, S.E.2    Guo, Q.3    Rimm, E.4
  • 43
    • 33646483378 scopus 로고    scopus 로고
    • Comparative accuracy: Assessing new tests against existing diagnostic pathways
    • Bossuyt PM, Irwig L, Crane L, Glasziou P. Comparative accuracy: assessing new tests against existing diagnostic pathways. BMJ 2006;332:1089-1092.
    • (2006) BMJ , vol.332 , pp. 1089-1092
    • Bossuyt, P.M.1    Irwig, L.2    Crane, L.3    Glasziou, P.4
  • 44
    • 0035906308 scopus 로고    scopus 로고
    • CONSORT Group (Consolidated Standards of Reporting Trials). The CONSORT statement: Revised recommendations for improving the quality of reports of parallel-group randomized trials
    • Moher D, Schulz KF, Altman D; CONSORT Group (Consolidated Standards of Reporting Trials). The CONSORT statement: revised recommendations for improving the quality of reports of parallel-group randomized trials. JAMA 2001;285: 1987-1991.
    • (2001) JAMA , vol.285 , pp. 1987-1991
    • Moher, D.1    Schulz, K.F.2    Altman, D.3
  • 45


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