메뉴 건너뛰기




Volumn 13, Issue , 2012, Pages 381-393

Ethical issues with newborn screening in the genomics era

Author keywords

ethics; newborn screening policy; whole genome sequencing

Indexed keywords

BLOOD SPOT STORAGE; BLOOD STORAGE; CLINICAL ASSESSMENT; COMMUNITY CARE; EDUCATION; FALSE POSITIVE RESULT; FOLLOW UP; GENE SEQUENCE; GENOMICS; HETEROZYGOTE; HUMAN; MEDICAL ETHICS; NEWBORN SCREENING; PARENTAL SCHOOLING; REVIEW;

EID: 84872446157     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-090711-163741     Document Type: Review
Times cited : (88)

References (70)
  • 1
    • 33744830065 scopus 로고    scopus 로고
    • A vision of the future of newborn screening
    • DOI 10.1542/peds.2005-2633O
    • Alexander D, van Dyck PC. 2006. A vision of the future of newborn screening. Pediatrics 117:S350-54 (Pubitemid 46071323)
    • (2006) Pediatrics , vol.117 , Issue.5
    • Alexander, D.1    Van Dyck, P.C.2
  • 2
    • 0001373172 scopus 로고    scopus 로고
    • Newborn screening: A blueprint for the future executive summary: Newborn Screening Task Force report
    • Am. Acad. Pediatr. Newborn Screen. Task Force
    • Am. Acad. Pediatr. Newborn Screen. Task Force. 2000. Newborn screening: a blueprint for the future executive summary: Newborn Screening Task Force report. Pediatrics 106:389-427
    • (2000) Pediatrics , vol.106 , pp. 389-427
  • 3
    • 33947524044 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform screening panel and system
    • Am. Coll. Med. Genet Rockville, MD
    • Am. Coll. Med. Genet. 2005. Newborn screening: toward a uniform screening panel and system. Rep., Am. Coll. Med. Genet., Rockville, MD
    • (2005) Rep., Am. Coll. Med. Genet
  • 4
    • 79954428003 scopus 로고    scopus 로고
    • Committee opinion no. 481: Newborn screening
    • Am. Coll. Obstet. Gynecol.Comm. Genet
    • Am. Coll. Obstet. Gynecol.Comm. Genet. 2011.Committee opinion no. 481: newborn screening. Obstet. Gynecol. 117:762-65
    • (2011) Obstet. Gynecol , vol.117 , pp. 762-765
  • 5
    • 84872475026 scopus 로고    scopus 로고
    • Bearder et al. v. State of Minnesota. 2010. Minn. Court of Appeals A10-101 (Aug. 24)
    • Bearder et al. v. State of Minnesota. 2010. Minn. Court of Appeals A10-101 (Aug. 24)
  • 6
    • 84872477566 scopus 로고    scopus 로고
    • Beleno v. Texas Department of State Health Services. 2009. US Dist. Court West. Dist. Tex. 5SA-09-CA-0188-FB (Mar. 3)
    • Beleno v. Texas Department of State Health Services. 2009. US Dist. Court West. Dist. Tex. 5SA-09-CA-0188-FB (Mar. 3)
  • 7
    • 77649123122 scopus 로고    scopus 로고
    • History and current status of newborn screening for hemoglobinopathies
    • Benson JM, Therrell BL Jr. 2010. History and current status of newborn screening for hemoglobinopathies. Semin. Perinatol. 34:134-44
    • (2010) Semin. Perinatol , vol.34 , pp. 134-144
    • Benson, J.M.1    Therrell Jr., B.L.2
  • 8
    • 77449133011 scopus 로고    scopus 로고
    • Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond
    • Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, et al. 2009. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J. Pediatr. 155:S106-16
    • (2009) J. Pediatr , vol.155
    • Borowitz, D.1    Parad, R.B.2    Sharp, J.K.3    Sabadosa, K.A.4    Robinson, K.A.5
  • 10
    • 25844514754 scopus 로고    scopus 로고
    • Talking with parents before newborn screening
    • DOI 10.1016/j.jpeds.2005.08.001, PII S0022347605007456
    • Clayton EW. 2005. Talking with parents before newborn screening. J. Pediatr. 147:S26-29 (Pubitemid 41400255)
    • (2005) Journal of Pediatrics , vol.147 , Issue.3 SUPPL.
    • Clayton, E.W.1
  • 11
    • 55249116853 scopus 로고    scopus 로고
    • Public healthcare resource allocation and the Rule of Rescue
    • Cookson R, McCabe C, Tsuchiya A. 2008. Public healthcare resource allocation and the Rule of Rescue. J. Med. Ethics 34:540-44
    • (2008) J. Med. Ethics , vol.34 , pp. 540-544
    • Cookson, R.1    McCabe, C.2    Tsuchiya, A.3
  • 13
    • 2342442116 scopus 로고    scopus 로고
    • Newborn screening - Should it be part of prenatal care?
    • DOI 10.1016/j.ajog.2003.12.025
    • Diem K. 2004. Newborn screening-should it be part of prenatal care? Am. J. Obstet. Gynecol. 190:874 (Pubitemid 38561498)
    • (2004) American Journal of Obstetrics and Gynecology , vol.190 , Issue.4 , pp. 874
    • Diem, K.1
  • 15
    • 49849088488 scopus 로고    scopus 로고
    • Pediatric residents' use of jargon during counseling about newborn genetic screening results
    • Farrell MH, Deuster L, Donovan J, Christopher S. 2008. Pediatric residents' use of jargon during counseling about newborn genetic screening results. Pediatrics 122:243-49
    • (2008) Pediatrics , vol.122 , pp. 243-249
    • Farrell, M.H.1    Deuster, L.2    Donovan, J.3    Christopher, S.4
  • 16
    • 33644689186 scopus 로고    scopus 로고
    • Content of communication by pediatric residents after newborn genetic screening
    • DOI 10.1542/peds.2004-2611
    • Farrell MH, La Pean A, Ladouceur L. 2005. Content of communication by pediatric residents after newborn genetic screening. Pediatrics 116:1492-98 (Pubitemid 46061100)
    • (2005) Pediatrics , vol.116 , Issue.6 , pp. 1492-1498
    • Farrell, M.H.1    La Pean, A.2    Ladouceur, L.3
  • 17
    • 84855318519 scopus 로고    scopus 로고
    • Child health providers' precautionary discussion of emotions during communication about results of newborn genetic screening
    • Farrell MH, Speiser J, Deuster L, Christopher S. 2012. Child health providers' precautionary discussion of emotions during communication about results of newborn genetic screening. Arch. Pediatr. Adolesc. Med. 166:62-67
    • (2012) Arch. Pediatr. Adolesc. Med , vol.166 , pp. 62-67
    • Farrell, M.H.1    Speiser, J.2    Deuster, L.3    Christopher, S.4
  • 19
    • 39749102011 scopus 로고    scopus 로고
    • Questioning the need for informed consent: A case study of California's experience with a pilot newborn screening project
    • Feuchtbaum L, Cunninghamn G, Sciortino S. 2007. Questioning the need for informed consent: a case study of California's experience with a pilot newborn screening project. J. Empir. Res. Hum. Res. Ethics 2:3-14
    • (2007) J. Empir. Res. Hum. Res. Ethics , vol.2 , pp. 3-14
    • Feuchtbaum, L.1    Cunninghamn, G.2    Sciortino, S.3
  • 20
    • 33744784315 scopus 로고    scopus 로고
    • Tandem mass spectrometry program implementation challenges for state newborn screening programs: National survey of barriers and issues
    • DOI 10.1542/peds.2005-2633D
    • Feuchtbaum L, Faulkner L, Verghese S. 2006. Tandem mass spectrometry program implementation challenges for state newborn screening programs: national survey of barriers and issues. Pediatrics 117:S253-60 (Pubitemid 46071312)
    • (2006) Pediatrics , vol.117 , Issue.5
    • Feuchtbaum, L.1    Faulkner, L.2    Verghese, S.3
  • 21
    • 0023107831 scopus 로고
    • Four-year follow-up psychological reactions to false positive screening tests for congenital hypothyroidism
    • Fyro K, Bodegard G. 1987. Four-year follow-up of psychological reactions to false positive screening tests for congenital hypothyroidism. Acta Paediatr. Scand. 76:107-14 (Pubitemid 17020972)
    • (1987) Acta Paediatrica Scandinavica , vol.76 , Issue.1 , pp. 107-114
    • Fyro, K.1    Bodegard, G.2
  • 22
    • 84856441512 scopus 로고    scopus 로고
    • The ethical hazards and programmatic challenges of genomic newborn screening
    • Goldenberg AJ, Sharp RR. 2011. The ethical hazards and programmatic challenges of genomic newborn screening. JAMA 307:461-62
    • (2011) JAMA , vol.307 , pp. 461-462
    • Goldenberg, A.J.1    Sharp, R.R.2
  • 24
    • 33745297628 scopus 로고    scopus 로고
    • Expanded newborn screening for biochemical disorders: The effect of a false-positive result
    • DOI 10.1542/peds.2005-2294
    • Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. 2006. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 117:1915-21 (Pubitemid 46071234)
    • (2006) Pediatrics , vol.117 , Issue.6 , pp. 1915-1921
    • Gurian, E.A.1    Kinnamon, D.D.2    Henry, J.J.3    Waisbren, S.E.4
  • 25
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
    • Guthrie R. 1963. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:318-43
    • (1963) Pediatrics , vol.32 , pp. 318-343
    • Guthrie, R.1
  • 26
    • 79960109910 scopus 로고    scopus 로고
    • Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies
    • Hasegawa LE, Fergus KA, Ojeda N, Au SM. 2011. Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies. Public Health Genomics 14:298-306
    • (2011) Public Health Genomics , vol.14 , pp. 298-306
    • Hasegawa, L.E.1    Fergus, K.A.2    Ojeda, N.3    Au, S.M.4
  • 27
    • 34948822964 scopus 로고    scopus 로고
    • Long-term follow-up data collection and use in state newborn screening programs
    • DOI 10.1001/archpedi.161.10.994
    • Hoff T, Ayoob M, Therrell BL. 2007. Long-term follow-up data collection and use in state newborn screening programs. Arch. Pediatr. Adolesc. Med. 161:994-1000 (Pubitemid 47529417)
    • (2007) Archives of Pediatrics and Adolescent Medicine , vol.161 , Issue.10 , pp. 994-1000
    • Hoff, T.1    Ayoob, M.2    Therrell, B.L.3
  • 29
    • 33744801974 scopus 로고    scopus 로고
    • Financing state newborn screening programs: Sources and uses of funds
    • DOI 10.1542/peds.2005-2633F
    • Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR, Therrell BL. 2006. Financing state newborn screening programs: sources and uses of funds. Pediatrics 117:S270-79 (Pubitemid 46071314)
    • (2006) Pediatrics , vol.117 , Issue.5
    • Johnson, K.1    Lloyd-Puryear, M.A.2    Mann, M.Y.3    Ramos, L.R.4    Therrell, B.L.5
  • 30
    • 74849129371 scopus 로고    scopus 로고
    • Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: Qualitative study of experience and practice
    • Kai J, Ulph F, Cullinan T, Qureshi N. 2009.Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice. Health Technol. Assess. 13:1-82
    • (2009) Health Technol. Assess , vol.13 , pp. 1-82
    • Kai, J.1    Ulph, F.2    Cullinan, T.3    Qureshi, N.4
  • 31
    • 24344493910 scopus 로고    scopus 로고
    • Informing parents about newborn screening
    • DOI 10.1111/j.0737-1209.2005.220408.x
    • Kemper AR, Fant KE, Clark SJ. 2005. Informing parents about newborn screening. Public Health Nurs. 22:332-38 (Pubitemid 41261313)
    • (2005) Public Health Nursing , vol.22 , Issue.4 , pp. 332-338
    • Kemper, A.R.1    Fant, K.E.2    Clark, S.J.3
  • 32
    • 33750954779 scopus 로고    scopus 로고
    • Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results
    • DOI 10.1542/peds.2006-1639
    • Kemper AR, UrenRL, MoseleyKL, Clark SJ. 2006. Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results. Pediatrics 118:1836-41 (Pubitemid 46393663)
    • (2006) Pediatrics , vol.118 , Issue.5 , pp. 1836-1841
    • Kemper, A.R.1    Uren, R.L.2    Moseley, K.L.3    Clark, S.J.4
  • 33
    • 0037313310 scopus 로고    scopus 로고
    • Examination of the communication practices between state newborn screening programs and the medical home
    • Kim S, Lloyd-Puryear MA, Tonniges TF. 2003. Examination of the communication practices between state newborn screening programs and the medical home. Pediatrics 111:E120-26
    • (2003) Pediatrics , vol.111
    • Kim, S.1    Lloyd-Puryear, M.A.2    Tonniges, T.F.3
  • 35
    • 32044434692 scopus 로고    scopus 로고
    • Legal issues in newborn screening: Implications for public health practice and policy
    • Kraszewski J, Burke T, Rosenbaum S. 2006. Legal issues in newborn screening: implications for public health practice and policy. Public Health Rep. 121:92-94 (Pubitemid 43200192)
    • (2006) Public Health Reports , vol.121 , Issue.1 , pp. 92-94
    • Kraszewski, J.1    Burke, T.2    Rosenbaum, S.3
  • 36
    • 80053337571 scopus 로고    scopus 로고
    • "I'm fine; I'm just waiting for my disease" the new and growing class of presymptomatic patients
    • Kwon JM, Steiner RD. 2011. "I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. Neurology 77:522-23
    • (2011) Neurology , vol.77 , pp. 522-523
    • Kwon, J.M.1    Steiner, R.D.2
  • 37
    • 70449382805 scopus 로고    scopus 로고
    • Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis
    • Lang CW, Stark AP, Acharya K, Ross LF. 2009. Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis. Am. J. Med. Genet. A 149A:2424-29
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 2424-2429
    • Lang, C.W.1    Stark, A.P.2    Acharya, K.3    Ross, L.F.4
  • 39
    • 33644694004 scopus 로고    scopus 로고
    • Initially misleading communication of carrier results after newborn genetic screening
    • DOI 10.1542/peds.2005-0449
    • La Pean A, Farrell MH. 2005. Initially misleading communication of carrier results after newborn genetic screening. Pediatrics 116:1499-505 (Pubitemid 46056500)
    • (2005) Pediatrics , vol.116 , Issue.6 , pp. 1499-1505
    • La Pean, A.1    Farrell, M.H.2
  • 40
    • 0019156116 scopus 로고
    • Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies
    • Lenke RR, Levy HL. 1980. Maternal phenylketonuria and hyperphenylalaninemia-an international survey of the outcome of untreated and treated pregnancies. N. Engl. J. Med. 303:1202-8 (Pubitemid 11207585)
    • (1980) New England Journal of Medicine , vol.303 , Issue.21 , pp. 1202-1208
    • Lenke, R.R.1    Levey, H.L.2
  • 41
    • 70350217929 scopus 로고    scopus 로고
    • Impact of false-positive newborn metabolic screening results on early health care utilization
    • Lipstein EA, Perrin JM, Waisbren SE, Prosser LA. 2009. Impact of false-positive newborn metabolic screening results on early health care utilization. Genet. Med. 11:716-21
    • (2009) Genet. Med , vol.11 , pp. 716-721
    • Lipstein, E.A.1    Perrin, J.M.2    Waisbren, S.E.3    Prosser, L.A.4
  • 42
    • 84872437826 scopus 로고    scopus 로고
    • National standard for newborn screening is announced
    • May 21
    • Lynch E, Dezen T, Dewey LA. 2010. National standard for newborn screening is announced. March of Dimes, May 21. http://www.marchofdimes.Com/aboutus/ 49267-65861.asp
    • (2010) March of Dimes
    • Lynch, E.1    Dezen, T.2    Dewey, L.A.3
  • 43
    • 0036164288 scopus 로고    scopus 로고
    • Newborn screening program practices in the United States: Notification, research, and consent
    • DOI 10.1542/peds.109.2.269
    • Mandl KD, Feit S, Larson C, Kohane IS. 2002. Newborn screening program practices in the United States: notification, research, and consent. Pediatrics 109:269-73 (Pubitemid 34126868)
    • (2002) Pediatrics , vol.109 , Issue.2 , pp. 269-273
    • Mandl, K.D.1    Feit, S.2    Larson, C.3    Kohane, I.S.4
  • 44
    • 0037692911 scopus 로고    scopus 로고
    • The Rule of Rescue
    • DOI 10.1016/S0277-9536(02)00244-7, PII S0277953602002447
    • McKie J, Richardson J. 2003. The rule of rescue. Soc. Sci. Med. 56:2407-19 (Pubitemid 36555359)
    • (2003) Social Science and Medicine , vol.56 , Issue.12 , pp. 2407-2419
    • McKie, J.1    Richardson, J.2
  • 46
    • 33846092021 scopus 로고    scopus 로고
    • Natl. Newborn Screen. Genet. Res. Cent Rep., Natl. Newborn Screen. Genet. Res. Cent., Austin, TX
    • Natl. Newborn Screen. Genet. Res. Cent. 2010. National newborn screening status report [2010]. Rep., Natl. Newborn Screen. Genet. Res. Cent., Austin, TX
    • (2010) National Newborn Screening Status Report [2010]
  • 47
    • 33846092021 scopus 로고    scopus 로고
    • Natl. Newborn Screen. Genet. Res. Cent Rep., Natl. Newborn Screen. Genet. Res. Cent., Austin, TX
    • Natl. Newborn Screen. Genet. Res. Cent. 2011. National newborn screening status report [2011]. Rep., Natl. Newborn Screen. Genet. Res. Cent., Austin, TX
    • (2011) National Newborn Screening Status Report [2011]
  • 48
    • 84872480932 scopus 로고    scopus 로고
    • Neb. Rev. Stat. § 71-519-71-524
    • Neb. Rev. Stat. § 71-519-71-524
  • 49
    • 84872451569 scopus 로고    scopus 로고
    • Newborn Screening Saves Lives Act of 2007. Pub. L. No. 110-204, 122 Stat. 705
    • Newborn Screening Saves Lives Act of 2007. Pub. L. No. 110-204, 122 Stat. 705
  • 50
    • 25844530785 scopus 로고    scopus 로고
    • Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm
    • DOI 10.1016/j.jpeds.2005.08.017, PII S0022347605007614
    • ParadRB, ComeauAM. 2005. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J. Pediatr. 147:S78-82 (Pubitemid 41400264)
    • (2005) Journal of Pediatrics , vol.147 , Issue.3 SUPPL.
    • Parad, R.B.1    Comeau, A.M.2
  • 51
    • 84872439672 scopus 로고    scopus 로고
    • Patient Protection and Affordable Care Act of 2010. Pub. L. No. 111-148, 124 Stat. 119
    • Patient Protection and Affordable Care Act of 2010. Pub. L. No. 111-148, 124 Stat. 119
  • 57
    • 79951807036 scopus 로고    scopus 로고
    • Mandatory versus voluntary consent for newborn screening?
    • Ross LF. 2010. Mandatory versus voluntary consent for newborn screening? Kennedy Inst. Ethics J. 20:299-328
    • (2010) Kennedy Inst. Ethics J , vol.20 , pp. 299-328
    • Ross, L.F.1
  • 59
    • 0016038586 scopus 로고
    • Some negative aspects of state health departments' policies related to screening for sickle cell anemia
    • Rutkow IM, Lipton JM. 1974. Some negative aspects of state health departments' policies related to screening for sickle cell anemia. Am. J. Public Health 64:217-21
    • (1974) Am. J. Public Health , vol.64 , pp. 217-221
    • Rutkow, I.M.1    Lipton, J.M.2
  • 62
    • 34547824722 scopus 로고    scopus 로고
    • The current revolution in newborn screening: New technology, old controversies
    • Tarini BA. 2007. The current revolution in newborn screening: new technology, old controversies. Arch. Pediatr. Adolesc. Med. 161:1-6
    • (2007) Arch. Pediatr. Adolesc. Med , vol.161 , pp. 1-6
    • Tarini, B.A.1
  • 63
    • 79960842087 scopus 로고    scopus 로고
    • Storage and use of residual newborn screening blood spots: A public policy emergency
    • Tarini BA. 2011. Storage and use of residual newborn screening blood spots: a public policy emergency. Genet. Med. 13:619-20
    • (2011) Genet. Med , vol.13 , pp. 619-620
    • Tarini, B.A.1
  • 64
    • 33748435678 scopus 로고    scopus 로고
    • State newborn screening in the tandem mass spectrometry era: More tests, more false-positive results
    • DOI 10.1542/peds.2005-2026
    • Tarini BA, Christakis DA, Welch HG. 2006. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 118:448-56 (Pubitemid 46085397)
    • (2006) Pediatrics , vol.118 , Issue.2 , pp. 448-456
    • Tarini, B.A.1    Christakis, D.A.2    Welch, H.G.3
  • 65
    • 80053513583 scopus 로고    scopus 로고
    • False-positive newborn screening result and future health care use in a state Medicaid cohort
    • Tarini BA, Clark SJ, Pilli S, Dombkowski KJ, Korzeniewski SJ, et al. 2011. False-positive newborn screening result and future health care use in a state Medicaid cohort. Pediatrics 128:715-22
    • (2011) Pediatrics , vol.128 , pp. 715-722
    • Tarini, B.A.1    Clark, S.J.2    Pilli, S.3    Dombkowski, K.J.4    Korzeniewski, S.J.5
  • 66
    • 33744786549 scopus 로고    scopus 로고
    • Status of newborn screening programs in the United States
    • DOI 10.1542/peds.2005-2633C
    • Therrell BL, Johnson A, Williams D. 2006. Status of newborn screening programs in the United States. Pediatrics 117:S212-52 (Pubitemid 46071311)
    • (2006) Pediatrics , vol.117 , Issue.5
    • Therrell, B.L.1    Johnson, A.2    Williams, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.