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Volumn 10, Issue 1, 2013, Pages 81-87

Lessons that newborn screening in the USA can teach us about biobanking and large-scale genetic studies

Author keywords

biobanking; genetics; newborn screening; screening

Indexed keywords

DNA;

EID: 84871419842     PISSN: 17410541     EISSN: 1744828X     Source Type: Journal    
DOI: 10.2217/pme.12.115     Document Type: Review
Times cited : (7)

References (49)
  • 1
    • 33747591403 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform screening panel and system
    • Newborn screening: Toward a uniform screening panel and system. Genet Med. 8(SUPPL1), 1S -252S (2006
    • (2006) Genet Med , vol.8 , Issue.SUPPL. 1
  • 2
    • 0030746725 scopus 로고    scopus 로고
    • Public participation in medical policy-making and the status of consumer autonomy: The example of newborn-screening programs in the united states
    • Hiller EH, Landenburger G, Natowic MR. Public participation in medical policy-making and the status of consumer autonomy: The example of newborn-screening programs in the United States. Am. J. Public Health 87, 1280-1288 (1997
    • (1997) Am. J. Public Health , vol.87 , pp. 1280-1288
    • Hiller, E.H.1    Landenburger, G.2    Natowic, M.R.3
  • 3
    • 33744786549 scopus 로고    scopus 로고
    • Status of newborn screening programs in the united states
    • Therrell BL, Johnson A, Williams D. Status of newborn screening programs in the United States. Pediatrics 117(5 PT2), S212-S252 (2006
    • (2006) Pediatrics , vol.117 , Issue.5 PART 2
    • Therrell, B.L.1    Johnson, A.2    Williams, D.3
  • 4
    • 0014345394 scopus 로고
    • Principles and practice of screening for disease
    • Wilson JM, Junger YG. Principles and practice of screening for disease. Bol. Oficina Sanit. Panam. 65(4), 281-393 (1968
    • (1968) Bol. Oficina Sanit. Panam , vol.65 , Issue.4 , pp. 281-393
    • Wilson, J.M.1    Junger, Y.G.2
  • 7
    • 0036164288 scopus 로고    scopus 로고
    • Newborn screening program practices in the United States: Notification, research, and consent
    • Mandl KD, Feit S, Larson C, Kohane IS. Newborn screening program practices in the United States: Notification, research, and consent. Pediatrics 109(2), 269-273 (2002
    • (2002) Pediatrics , vol.109 , Issue.2 , pp. 269-273
    • Mandl, K.D.1    Feit, S.2    Larson, C.3    Kohane, I.S.4
  • 8
    • 33744792339 scopus 로고    scopus 로고
    • Recommendations for effective newborn screening communication: Results of focus groups with parents, providers, and experts
    • Davis TC, Humiston SG, Arnold CL et al. Recommendations for effective newborn screening communication: Results of focus groups with parents, providers, and experts. Pediatrics 117(5 PT2), S326-S340 (2006
    • (2006) Pediatrics , vol.117 , Issue.5 PART 2
    • Davis, T.C.1    Humiston, S.G.2    Arnold, C.L.3
  • 9
    • 79959946432 scopus 로고    scopus 로고
    • Parents' experiences of expanded newborn screening evaluations
    • Deluca JM, Kearney MH, Norton SA, Arnold GL. Parents' experiences of expanded newborn screening evaluations. Pediatrics 128(1), 53-61 (2011
    • (2011) Pediatrics , vol.128 , Issue.1 , pp. 53-61
    • Deluca, J.M.1    Kearney, M.H.2    Norton, S.A.3    Arnold, G.L.4
  • 10
    • 79953327702 scopus 로고    scopus 로고
    • State laws regarding the retention and use of residual newborn screening blood samples
    • Lewis MH, Goldenberg A, Anderson R, Rothwell E, Botkin J. State laws regarding the retention and use of residual newborn screening blood samples. Pediatrics 127(4), 703-712 (2011
    • (2011) Pediatrics , vol.127 , Issue.4 , pp. 703-712
    • Lewis, M.H.1    Goldenberg, A.2    Anderson, R.3    Rothwell, E.4    Botkin, J.5
  • 11
    • 84856526717 scopus 로고    scopus 로고
    • Newborn dried blood spot screening: Residual specimen storage issues
    • Therrell BL, Hannon WH. Newborn dried blood spot screening: Residual specimen storage issues. Pediatrics 129, 365-366 (2012
    • (2012) Pediatrics , vol.129 , pp. 365-366
    • Therrell, B.L.1    Hannon, W.H.2
  • 12
    • 78650786447 scopus 로고    scopus 로고
    • Newborn screening residual dried blood spot use for newborn screening quality improvement
    • Benkendorf J, Goodspeed T, Watson MS. Newborn screening residual dried blood spot use for newborn screening quality improvement. Genet Med 12(SUPPL12), S269-S272 (2010
    • (2010) Genet Med , vol.12 , Issue.SUPPL. 12
    • Benkendorf, J.1    Goodspeed, T.2    Watson, M.S.3
  • 13
    • 15844396182 scopus 로고    scopus 로고
    • Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: Statement of the council of regional networks for genetic services
    • Therrell BL, Hannon WH, Pass KA et al. Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: Statement of the Council of Regional Networks for Genetic Services. Biochem. Mol. Med. 57(2), 116-124 (1996
    • (1996) Biochem. Mol. Med , vol.57 , Issue.2 , pp. 116-124
    • Therrell, B.L.1    Hannon, W.H.2    Pass, K.A.3
  • 14
    • 82955245718 scopus 로고    scopus 로고
    • Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening
    • Schimmenti LA, Warman B, Schleiss MR et al. Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening. Genet. Med. 13, 1006-1010 (2011
    • (2011) Genet. Med , vol.13 , pp. 1006-1010
    • Schimmenti, L.A.1    Warman, B.2    Schleiss, M.R.3
  • 15
    • 68849096094 scopus 로고    scopus 로고
    • Whole genome microarray analysis, from neonatal blood cards
    • Hardin J, Finnell RH, Wong D et al. Whole genome microarray analysis, from neonatal blood cards. BMC Genet. 10, 38 (2009
    • (2009) BMC Genet , vol.10 , pp. 38
    • Hardin, J.1    Finnell, R.H.2    Wong, D.3
  • 16
    • 79651475062 scopus 로고    scopus 로고
    • Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis
    • Winkel BG, Hollegaard MV, Olesen MS et al. Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis. BMC Med. Genet. 12, 22 (2011
    • (2011) BMC Med. Genet , vol.12 , pp. 22
    • Winkel, B.G.1    Hollegaard, M.V.2    Olesen, M.S.3
  • 17
    • 9244257861 scopus 로고    scopus 로고
    • Ownership and use of tissue specimens for research
    • Hakimian R, Korn D. Ownership and use of tissue specimens for research. JAMA 292(20), 2500-2505 (2004
    • (2004) JAMA , vol.292 , Issue.20 , pp. 2500-2505
    • Hakimian, R.1    Korn, D.2
  • 18
    • 9644300904 scopus 로고    scopus 로고
    • Ethical issues in the collection, storage, and research use of human biological materials
    • Meslin EM, Quaid KA. Ethical issues in the collection, storage, and research use of human biological materials. J. Lab. Clin. Med. 144(5), 229-234 (2004
    • (2004) J. Lab. Clin. Med , vol.144 , Issue.5 , pp. 229-234
    • Meslin, E.M.1    Quaid, K.A.2
  • 19
    • 0020390058 scopus 로고
    • The therapeutic misconception: Informed consent in psychiatric research
    • Appelbaum PS, Roth LH, Lidz C. The therapeutic misconception: Informed consent in psychiatric research. Int. J. Law Psychiatry 5(3-4), 319-329 (1982
    • (1982) Int. J. Law Psychiatry , vol.5 , Issue.3-4 , pp. 319-329
    • Appelbaum, P.S.1    Roth, L.H.2    Lidz, C.3
  • 20
    • 0023319217 scopus 로고
    • False hopes and best data: Consent to research and the therapeutic misconception
    • Appelbaum PS, Roth LH, Lidz CW, Benson P, Winslade W. False hopes and best data: Consent to research and the therapeutic misconception. Hastings Cent. Rep. 17(2), 20-24 (1987
    • (1987) Hastings Cent. Rep , vol.17 , Issue.2 , pp. 20-24
    • Appelbaum, P.S.1    Roth, L.H.2    Lidz, C.W.3    Benson, P.4    Winslade, W.5
  • 21
    • 0033844765 scopus 로고    scopus 로고
    • A report from the newborn screening task force convened in washington dc may 10-11 1999
    • Serving The Family From Birth To The Medical Home
    • Serving the family from birth to the medical home. A report from the Newborn Screening Task Force convened in Washington DC, May 10-11, 1999. Pediatrics 106(2 PT2), 383-427 (2000
    • (2000) Pediatrics , vol.106 , Issue.2 PART 2 , pp. 383-427
  • 22
    • 39749171742 scopus 로고    scopus 로고
    • Waiving informed consent in newborn screening research: Balancing social value and respect
    • Tarini BA, Burke W, Scott CR, Wilfond BS. Waiving informed consent in newborn screening research: Balancing social value and respect. Am. J. Med. Genet. C Semin. Med. Genet. 148(1), 23-30 (2008
    • (2008) Am. J. Med. Genet. C Semin. Med. Genet , vol.148 , Issue.1 , pp. 23-30
    • Tarini, B.A.1    Burke, W.2    Scott, C.R.3    Wilfond, B.S.4
  • 23
    • 79952277283 scopus 로고    scopus 로고
    • An evidence development process for newborn screening
    • Perrin JM, Knapp AA, Browning MF et al. An evidence development process for newborn screening. Genet. Med. 12(3), 131-134 (2010
    • (2010) Genet. Med , vol.12 , Issue.3 , pp. 131-134
    • Perrin, J.M.1    Knapp, A.A.2    Browning, M.F.3
  • 24
    • 33646853843 scopus 로고    scopus 로고
    • Newborn screening technology: Proceed with caution
    • Botkin JR, Clayton EW, Fost NC et al. Newborn screening technology: Proceed with caution. Pediatrics 117(5), 1793-1799 (2006
    • (2006) Pediatrics , vol.117 , Issue.5 , pp. 1793-1799
    • Botkin, J.R.1    Clayton, E.W.2    Fost, N.C.3
  • 25
    • 33644692103 scopus 로고    scopus 로고
    • Research for newborn screening: Developing a national framework
    • Botkin Jr. Research for newborn screening: Developing a national framework. Pediatrics 116(4), 862-871 (2005
    • (2005) Pediatrics , vol.116 , Issue.4 , pp. 862-871
    • Botkin, J.R.1
  • 27
    • 33645575043 scopus 로고    scopus 로고
    • Screening for conditions that do not meet the wilson and jungner criteria: The case of duchenne muscular dystrophy
    • Ross LF. Screening for conditions that do not meet the wilson and jungner criteria: The case of duchenne muscular dystrophy. Am. J. Med. Genet. A 140(8), 914-922 (2006
    • (2006) Am. J. Med. Genet , vol.A140 , Issue.8 , pp. 914-922
    • Ross, L.F.1
  • 29
    • 79960841778 scopus 로고    scopus 로고
    • Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening
    • Therrell BL Jr, Hannon WH, Bailey DB Jr et al. Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening. Genet. Med. 13(7), 621-624 (2011
    • (2011) Genet. Med , vol.13 , Issue.7 , pp. 621-624
    • Therrell Jr., B.L.1    Hannon, W.H.2    Bailey Jr., D.B.3
  • 31
    • 0141679157 scopus 로고    scopus 로고
    • The charitable trust as a model for genomic biobanks
    • Winickoff DE, Winickoff RN. The charitable trust as a model for genomic biobanks. N. Engl. J. Med. 349(12), 1180-1184 (2003
    • (2003) N. Engl. J. Med , vol.349 , Issue.12 , pp. 1180-1184
    • Winickoff, D.E.1    Winickoff, R.N.2
  • 32
    • 79953298338 scopus 로고    scopus 로고
    • Concerns of newborn blood screening advisory committee members regarding storage and use of residual newborn screening blood spots
    • Rothwell EW, Anderson RA, Burbank MJ et al. Concerns of newborn blood screening advisory committee members regarding storage and use of residual newborn screening blood spots. Am. J. Public Health 101(11), 2111-2116 (2011
    • (2011) Am. J. Public Health , vol.101 , Issue.11 , pp. 2111-2116
    • Rothwell, E.W.1    Anderson, R.A.2    Burbank, M.J.3
  • 33
    • 79960421226 scopus 로고    scopus 로고
    • A spot of trouble
    • Carmichael BM. A spot of trouble. Nature 475, 156-159 (2011
    • (2011) Nature , vol.475 , pp. 156-159
    • Carmichael, B.M.1
  • 34
    • 77957239590 scopus 로고    scopus 로고
    • Currents in contemporary ethics state run newborn screening in the genomic era, or how to avoid drowning when drinking from a fire hose
    • Clayton E. Currents in contemporary ethics. State run newborn screening in the genomic era, or how to avoid drowning when drinking from a fire hose J. Law Med. Ethics 38(3), 697-700 (2010
    • (2010) J Law Med. Ethics , vol.38 , Issue.3 , pp. 697-700
    • Clayton, E.1
  • 35
    • 79751495553 scopus 로고    scopus 로고
    • The Michigan BioTrust for Health: Using dried bloodspots for research to benefit the community while respecting the individual
    • Chrysler D, Mcgee H, Bach J, Goldman E, Jacobson PD. The Michigan BioTrust for Health: Using dried bloodspots for research to benefit the community while respecting the individual. J. Law Med. Ethics 39 (SUPPL1), 98-101 (2011
    • (2011) J. Law Med. Ethics , vol.39 , Issue.SUPPL. 1 , pp. 98-101
    • Chrysler, D.1    Mcgee, H.2    Bach, J.3    Goldman, E.4    Jacobson, P.D.5
  • 36
    • 0141679157 scopus 로고    scopus 로고
    • The charitable trust as a model for genomic biobanks
    • Winickoff DE, Winickoff RN. The charitable trust as a model for genomic biobanks. N. Engl. J. Med. 349(12), 1180-1184 (2003
    • (2003) N. Engl. J. Med , vol.349 , Issue.12 , pp. 1180-1184
    • Winickoff, D.E.1    Winickoff, R.N.2
  • 37
    • 79960841778 scopus 로고    scopus 로고
    • Considerations and recommendations for a national policy regarding the retention and use of dried blood spot specimens after newborn screening
    • Therrell B, Hannon H, Bailey D, Fleischman A, Goldman E. Considerations and recommendations for a national policy regarding the retention and use of dried blood spot specimens after newborn screening. Genet. Med. 13(7), 621-624 (2009
    • (2009) Genet. Med , vol.13 , Issue.7 , pp. 621-624
    • Therrell, B.1    Hannon, H.2    Bailey, D.3    Fleischman, A.4    Goldman, E.5
  • 38
    • 80052542458 scopus 로고    scopus 로고
    • Down syndrome: Issues to consider in a national registry, research database and biobank
    • McCabe LL, Mccabe ER. Down syndrome: Issues to consider in a national registry, research database and biobank. Mol. Genet. Metab. 104(1-2), 10-12 (2011
    • (2011) Mol. Genet. Metab , vol.104 , Issue.1-2 , pp. 10-12
    • McCabe, L.L.1    Mccabe, E.R.2
  • 39
    • 84871437626 scopus 로고
    • of Cal., 793 P.2d 479 (Cal. 1990), cert. denied, 499 U.S.
    • Moore v. Regents of the Univ. of Cal., 793 P.2d 479 (Cal. 1990), cert. denied, 499 U.S. 936 (1991
    • (1991) Regents of the Univ , pp. 936
    • Moore, V.1
  • 41
    • 84871409803 scopus 로고    scopus 로고
    • Washington University v. 3d 667 (8th Cir
    • Washington University v. Catalona, 490 F.3d 667 (8th Cir. 2007
    • (2007) Catalona , vol.F490
  • 42
    • 48249127626 scopus 로고    scopus 로고
    • Use of newborn screening program blood spots for exposure assessment: Declining levels of perluorinated compounds in new york state infants
    • Spliethoff HM, Tao L, Shaver SM et al. Use of newborn screening program blood spots for exposure assessment: Declining levels of perluorinated compounds in New York State infants. Environ. Sci. Technol. 42(14), 5361-5367 (2008
    • (2008) Environ. Sci. Technol , vol.42 , Issue.14 , pp. 5361-5367
    • Spliethoff, H.M.1    Tao, L.2    Shaver, S.M.3
  • 44
    • 77952529089 scopus 로고    scopus 로고
    • Examining the public refusal to consent to DNA biobanking: Empirical data from a Swedish population-based study
    • Melas PA, Sjöholm LK, Forsner T et al. Examining the public refusal to consent to DNA biobanking: Empirical data from a Swedish population-based study. J. Med. Ethics 36, 93-98 (2010
    • (2010) J. Med. Ethics , vol.36 , pp. 93-98
    • Melas, P.A.1    Sjöholm, L.K.2    Forsner, T.3
  • 46
    • 77349115482 scopus 로고    scopus 로고
    • Not without my permission: Parents' willingness to permit use of newborn screening samples for research
    • Tarini BA, Goldenberg A, Singer D, Clark SJ, Butchart A, Davis MM. Not without my permission: Parents' willingness to permit use of newborn screening samples for research. Public Health Genomics 13(3), 125-130 (2010
    • (2010) Public Health Genomics , vol.13 , Issue.3 , pp. 125-130
    • Tarini, B.A.1    Goldenberg, A.2    Singer, D.3    Clark, S.J.4    Butchart, A.5    Davis, M.M.6
  • 47
    • 84863393820 scopus 로고    scopus 로고
    • Public attitudes regarding the use of residual newborn screening specimens for research
    • Botkin JR, Rothwell E, Anderson R et al. Public attitudes regarding the use of residual newborn screening specimens for research. Pediatrics 129, 231-238 (2012
    • (2012) Pediatrics , vol.129 , pp. 231-238
    • Botkin, J.R.1    Rothwell, E.2    Anderson, R.3
  • 48
    • 70249122789 scopus 로고    scopus 로고
    • Pediatric biobanks: Approaching informed consent for continuing research after children grow up
    • Goldenberg AJ, Hull SC, Botkin JR, Wilfond BS. Pediatric biobanks: Approaching informed consent for continuing research after children grow up. J. Pediatr. 155, 578-583 (2009
    • (2009) J. Pediatr , vol.155 , pp. 578-583
    • Goldenberg, A.J.1    Hull, S.C.2    Botkin, J.R.3    Wilfond, B.S.4
  • 49
    • 77953429952 scopus 로고    scopus 로고
    • Principles of human subjects protections applied in an opt-out, de-identified biobank
    • Pulley J, Clayton E, Bernard GR, Roden DM, Masys DR. Principles of human subjects protections applied in an opt-out, de-identified biobank. Clin. Transl. Sci. 3(1), 42-48 (2010
    • (2010) Clin. Transl. Sci , vol.3 , Issue.1 , pp. 42-48
    • Pulley, J.1    Clayton, E.2    Bernard, G.R.3    Roden, D.M.4    Masys, D.R.5


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