Over-enthusiastic newborn screening has often caused substantial harm and has been imposed on the public without adequate information on benefits and risks and without parental consent. This problem will become worse when genomic screening is implemented. For the past 40 years, there has been broad agreement about the criteria for ethically responsible screening, but the criteria have been systematically ignored by policy makers and practitioners. Claims of high benefit and low risk are common, but they require precise definition and documentation, which has often not occurred, undermining claims that involuntary testing is justified. Even when the benefits and risks are well established, it does not automatically follow that involuntary testing is justified, a position supported by the widespread tolerance for parental refusal of immunizations and newborn screening.
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References
1.
M.Wasserstein, “Screening of Newborns for Disorders with High Benefit-Risk Ratios,”Journalof Law, Medicine & Ethics42, no. 2 (2016).
2.
G.Santayana, “Reason in Common Sense,” volume 1 of The Life of Reason (1905): at 284.
3.
Olmstead v. United States, 277 U.S. 438 (1928),
4.
R.Faden and T.Beauchamp, A History and Theory of Informed Consent (Oxford University Press: New York, 1986).
J. R.Botkin, M. H.Lewis, M. S.Watson, K. J.Swoboda, R.Anderson, S. A.Berry, N.Bonhomme, J. P.Brosco, A. M.Comeau, A.Goldenberg, E.Goldman, B.Therrell, J.Levy-Fisch, B.Tarini, and B.Wilfond, “Bioethics and Legal Work Group of the Newborn Screening Translational Research Network: Parental Permission for Pilot Newborn Screening Research: Guidelines from the NBSTRN,”Pediatrics133, no. 2 (2014): e410-7; J. R. Botkin, “Research for Newborn Screening: Developing a National Framework,” Pediatrics 116 (2005): 862-871.
8.
D.Alexander and P. C.van Dyck, “A Vision of the Future of Newborn Screening,”Pediatrics117, no. 5 (2006): S350-354.
9.
H. A.Waisman, “Role of Phenylalanine Excess in Experimental Phenylketonuria,”Research Publications - Association for Research in Nervous and Mental Disease40 (1962): 300-310.
10.
R.Guthrie and A.Susi, “A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants,”Pediatrics32, no. 9 (1963): 338-343.
11.
D.Paul, “Appendix 5. The History of Newborn Phenylketonuria Screening in the U.S.,” in Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing, N. A.Holtzman and M. S.Watson, eds., September 1997, available at <http://biotech.law.lsu.edu/research/fed/tfgt/appendix5.htm> (last visited April 25, 2016).
12.
J. P.Brosco, L. M.Sanders, M. I.Seider, and A. C.Dunn, “Adverse Medical Outcomes of Early Newborn Screening Programs for Phenylketonuria,”Pediatrics122 (2008): 192–197.
13.
P. D.Brosco and D.Paul, The PKU Paradox: A Short History of a Genetic Disease (electronic edition) (Baltimore: Johns Hopkins Press, 2014).
14.
Id.
15.
Id., at 121.
16.
Id., at 129.
17.
S.Salehpour and D.Babaie, “Mismanagement of Phenylketonuria: an Underlying Cause of Kwashiorkor,”Iranian Journal of Child Neurology2, no. 4 (2008): 59-61.
18.
American Academy of Pediatrics Committee on Genetics, “Maternal Phenylketonuria,”Pediatrics122 (2008): 445–449.
19.
W. B.Hanley, J. T. R.Clarke, and W.Schoonheyt, “Maternal Phenylketonuria: A Review,”Clinical Biochemistry20 (1987): 149-156.
20.
F.Maillot, M.Lilburn, J.Baudin, D. W.Morley, and P.Lee, “Factors Influencing outcomes in the Offspring of Mothers with Phenylketonuria during Pregnancy: The Importance of Variation in Maternal Blood Phenylalanine,”American Journal of Clinical Nutrition88, no. 3 (2008): 700-705.
21.
See Brosco and Paul, supra note 13, at 117.
22.
Id., at 118.
23.
Id., at 119.
24.
A. P.Simopoulos and Committee for the Study of Inborn Errors of Metabolism, Division of Medical Sciences, Assembly of Life Sciences, National Research Council, Genetic Screening: Programs, Principles, and Research (Washington, D.C.: National Academy of Sciences, 1975). See also, A. P. Simopoulos and the Committee for the Study of Inborn Errors of Metabolism (SIEM), “Genetic Screening: Programs, Principles, and Research--Thirty Years Later. Reviewing the Recommendations of the Committee for the Study of Inborn Errors of Metabolism (SIEM),” Public Health Genomics 12, no. 2 (2009): 105-111.
25.
J. M.Wilson and Y. G.Jungner. “Principles and Practice of Mass Screening for Disease,”Boletín de la Oficina Sanitaria Panamericana65, no. 4 (1968): 281-393.
26.
L. B.Andrews, J. E.Fullarton, N. A.Holtzman, and A. G.Motulsky, eds., Committee on Assessing Genetic Risks, Division of Health Sciences Policy, Institute of Medicine, Assessing Genetic Risks: Implications for Health and Social Policy (Washington, D.C.: National Academy Press, 1994).
27.
See Simopoulos, supra note 23 and id. (Andrews).
28.
President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research, Screening and Counseling for Genetic Conditions: The Ethical, Social and Legal Implications of Genetic Screening, Counseling and Education Programs (Washington, D.C.: US Government Printing Office, 1983).
29.
See Ross, infra note 40.
30.
M.Lappe, J.Gustafson, and R.Roblin, “Ethical and Social Issues in Screening for Genetic Disease,”New England Journal of Medicine286 (1979): 1129-1132.
31.
See Ross, infra.
32.
A.Andermann, I.Blancquaert, S.Beauchamp, and V.Dery, “Revisiting Wilson and Jungner in the Genomic Age: A Review of Screening Criteria over the Past 40 years,”Bulletin of the World Health Organization86, no. 4 (2008): 317-319.
33.
See Botkin et al., supra note 7.
34.
See supra note 6.
35.
“American Academy of Pediatrics Statement of Compulsory Testing of Newborns for Metabolic Disorders,”Pediatrics39, no. 4 (1967): 84-85.
36.
R.Grob, Testing Baby: The Transformation of Newborn Screening, Parenting and Policymaking (New Brunswick: Rutgers University Press, 1966).
37.
R.Firth, “Ethical Absolutism and the Ideal Observer,”Philosophy and Phenomenological Research12 (1952): 317.
38.
N. A.Holtzman, Proceed with Caution: Predicting Genetic Risks in the Recombinant DNA Era (Baltimore: Johns Hopkins Press, 1989); J. R.Botkin, E. W.Clayton, N. C.Fost, W.Burke, T. H.Murray, M.Baily, B.Wilfond, A.Berg, and L. R.Ross, “Newborn Screening Technology: Proceed with Caution,”Pediatrics117, no. 5 (2006): 1793-1799.
39.
Id. (Holtzman).
40.
L. F.Ross, H. M.Saal, K. L.David, R. R.Anderson, and the American Academy of Pediatrics and American College of Medical Genetics, “Technical Report: Ethical and Policy Issues in Genetic Testing and Screening of Children,”Genetics in Medicine15, no. 3 (2013): 234-245; American Academy of Pediatrics Committee on Bioethics, Committee on Genetics, and the American College of Medical Genetics, and Genomics Social, Ethical and Legal Issues Committee, “Ethical and Policy Issues in Genetic Testing and Screening of Children,” Pediatrics 131, no. 3 (2013): 620-622.
41.
R.Usher, “Reduction in Mortality from Respiratory Distress Syndrome Prematurity with Early Administration of Intravenous Glucose and Sodium Bicarbonate,”Pediatrics32 (1963): 966-975.
42.
H.Hein, “The Use of Sodium Bicarbonate in Neonatal Resuscitation: Help or Harm?”Pediatrics91 (1993): 496-497.
43.
G. B.Odell, “Therapeutic Misadventures in Neonatal Care,” in L.Gluck, ed., Modern Perinatal Medicine (Chicago: Yearbook Medical Publishers, 1956): at 323-327.
44.
E. M.Ostrea and G. B.Odell, “The Influence of Bicarbonate Administration on Blood pH in a ‘Closed System,’: Clinical Implications,”Journal of Pediatrics80 (1972): 671-680; G. B. Odell, “Therapeutic Misadventures in Neonatal Care,” in L. Gluck, ed., Modern Perinatal Medicine (Chicago: Yearbook Medical Publishers, 1956): at 323-327.
45.
L.Finberg, “The Relationship of Intravenous Infusions and Intracranial Hemorrhage: A Commentary,”Journal of Pediatrics91 (1977): 777-778.
46.
M. A.Simmons, E. W.Adcock3rd, H.Bard, and F. C.Battaglia, “Hypernatremia and Intracranial Hemorrhage in Neonates,”New England Journal of Medicine291, no. 1 (1974): 6-10.
47.
J. L.Aschner and R. L.Poland, “Sodium Bicarbonate: Basically Useless Therapy,”Pediatrics122 (2008): 831-835.
48.
J.Watchko and F.Oski, “Biliruibin 20 mg/dl = vigintophobia,”Pediatrics71 (1983): 660-663.
49.
T.Newman, P.Liljestrand, R.Jeremyet al., “Outcomes among Newborns with Total Serum Bilirubin Levels of 25 mg per Deciliter or More,”New England Journal of Medicine354, no. 18 (2006): 1889-1900.
50.
T. B.Newman, P.Liljestrand, and G.Escobar, “Infants with Bilirubin of 30 mg/dl or More in a Large Managed Care Organization,”Pediatrics111, no. 6 (2003): 1303-1311.
51.
T. B.Newman and M. J.Maisels, “Does Hyperbilirubinemia Damage the Brain of Healthy Full-Term Infants?”Clinics in Perinatology17, no. 2 (1990): 331-358.
52.
W. J.Jablonski, “Risks Associated with Exchange Transfusion,”New EnglandJournal of Medicine266, no. 4 (1962): 155-160.
53.
D.Trolle, “Discussion on the Advisability of Performing Exchange Transfusion in Neonatal Jaundice of Unknown Etiology,”Acta Paediatrica58 (1961): 392-398.
54.
W. A.Silverman, “A Cautionary Tale About Supplemental Oxygen: The Albatross of Neonatal Medicine,”Pediatrics113 (2004): 394-396.
55.
A.Patz, L. E.Hoeck, and E.de la Cruz, “Studies on the Effect of High Oxygen Administration in Retrolental Fibroplasia. 1. Nursery Observations,”American Journal of Ophthalmology35 (1952): 1248-1253.
56.
W.Tin and S.Gupta, “Optimum Oxygen Therapy in Preterm Babies,”Archives of Disease in Child: Fetal Neonatal Ed. 92, no. 2 (2007): F143-F147.
V. A.Moyer, N.Calonge, S. M.Teutsch, and J. R.Botkin, on Behalf of the United States Preventive Services Task Force, “Expanding Newborn Screening: Process, Policy, and Priorities,”Hastings Center Report38, no. 3 (2008): 32-39. See especially Note 16. This report is also available at <http://www.uspreventiveservicestaskforce.org/uspstf08/methods/newbscr.htm#copyright> (last visited April 26, 2016).
60.
See Botkin, supra note 38; N.Natowicz, “Newborn Screening–Setting Evidence Based Policy for Protection,”New England Journal of Medicine353 (2005): 867-870.
61.
R. R.Howell, “We Need Expanded Newborn Screening,”Pediatrics117, no. 5 (2006): 1800-1805.
62.
A.Pandor, J.Eastham, C.Beverley, J.Chilcott, and S.Maisley, “Clinical Effectiveness and Cost-Effectiveness of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: A Systematic Review,”Health Technology Assessment8, no. 12 (2004): 1-309.
63.
MBADD is the acronym for 2-methylbutyryl-CoA dehydrogenase deficiency.
64.
S. C.Van Calcar, L. A.Gleason, G.Hoffman, V. V.Rhead, G.Vockley, J. A.Wolff, and M. S.Durkin, “2-methylbutyryl-CoA Dehydrogenase Deficiency in Hmong Infants Identified by Expanded Newborn Screen,”Wisconsin Medical Journal106, no. 1 (2007): 12-15.
65.
F.Kokotos, “The Vulnerable Child Syndrome,”Pediatrics in Review30, no. 5 (2009): 193-194.
66.
N.Fost and N. M.Kaback, “Why Do Sickle Screening in Children?”Pediatrics51, no. 4 (1973): 742-745.
67.
G.Stamatoyannopoulus, “Problems of Screening and Counseling in the Hemoglobinopathies,” in A. G.Motulsky and W.Lenz, eds., Birth Defects: Proceedings of the 4th International Conference, Vienna, Austria, September 28, 1973.
68.
R.Severo, “Blacks Only Need Apply,”The Nation, September 20, 1980, at 243-245.
69.
NIH Program Explores the Use of Genomic Sequencing in Newborn Healthcare, National Institutes of Health, September 4, 2013, available at <http://www.nih.gov/news/health/sep2013/nhgri-04.htm> (last visited April 27, 2016).
70.
D.Alexander and J. W.Hanson, “NICHD Research Initiative in Newborn Screening,”Mental Retardation and Developmental Disabilities Research Reviews12, no. 4 (2006): 301-304.
71.
Wisconsin Statutes 253.13(3). Tests for congenital disorders: Exceptions.
72.
J.Kraszewski, T.Burke, and S.Rosenbaum, “Legal Issues in Newborn Screening: Implications for Public Health Practice and Policy,”Public Health Reports121, no. 1 (2006): 92-94.
73.
Committee on Bioethics, Committee on Genetics, and the American College of Medical Genetics and Genomics Social, Ethical, and Legal Issues Committee, “Ethical and Policy Issues in Genetic Testing and Screening of Children,”Pediatrics131, no. 3 (2013): 620-622.
74.
See Botkin, supra note 7.
75.
See Botkin, Lewiset al., supra note 7.
76.
J. M.Perrin, A. A.Knapp, M. F.Browning, A. M.Comeau, N. S.Green, E. A.Lipstein, D. R.Metterville, L.Prosser, D.Queally, and A. R.Kemper, “An Evidence Development Process for Newborn Screening,”Genetics in Medicine12, no. 3 (2010): 131-134
K.Golden-grant, J. L.MerrittII, and C. R.Scott, “Ethical Considerations of Population Screening for Late-Onset Genetic Disease,”Clinical Genetics88 (2015): at 589-592.
79.
See Botkin, Lewiset al., supra note 7; M. J.Green, B. B.Biesecker, A. M.McInerney, D. T.Mauger and N.Fost, “An Interactive Computer Program Can Effectively Educate Patients about Genetic Testing for Breast Cancer Susceptibility,”American Journal of Medical Genetics103 (2001): 16-23; A. N.Mahnke, J. M.Plasek, D. G.Hoffman, N. S.Partridge, W. S.Foth, C. J.Waudby, L. V.Rasmussen, V. D.MacManus, and C. A.McCarty, “A Rural Community's Involvement in the Design and Usability testing of a Computer-Based Informed Consent Process for the Personalized Medicine Research Project,”American Journal of Medical Genetics164A, no. 1 (2014): 129-140.
