Potential uses and inherent challenges of using genome-scale sequencing to augment current newborn screening

Cold Spring Harbor Perspectives in Medicine

Volumn 5, Issue 12, 2015, Pages

  Berg, Jonathan S ^a   Powell, Cynthia M ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; EXOME; GENOME; HUMAN; NEWBORN; NEWBORN SCREENING; ETHICS; GENETIC SCREENING; GENOMICS; HEARING LOSS; PROCEDURES; UNITED STATES;

EXOME; GENETIC TESTING; GENOMICS; HEARING LOSS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; UNITED STATES;

EID: 84949266797     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a023150     Document Type: Article

References (53)

1. AAP, Committee on Bioethics. 2001. Ethical issues with genetic testing in pediatrics. Pediatrics 107: 1451-1455. Reaffirmed October 2004.
2. ACMG Newborn Screening Expert Group. 2006. Newborn screening: Toward a uniform screening panel and system-Executive summary. Pediatrics 117: S296-S307
3. Alexander D, van Dyck PC. 2006. A vision of the future of newborn screening. Pediatrics 117: S350-S354
4. Andermann A, Blancquaert I, Beauchamp S, Déry V. 2008. Revisiting Wilson and Jungner in the genomic age: A review of screening criteria over the past 40 years. Bull World Health Organ 86: 317-319.
5. ASHG Board of Directors, ACMG Board of Directors. 1995. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 57: 1233-1241.
6. Baily MA, Murray TH. 2008. Ethics, evidence, and cost in newborn screening. Hastings Center Report 38: 23-31
7. Bailey DB, Beskow LM, Davis AM, Skinner D. 2006. Changing perspectives on the benefits of newborn screening. Ment Retard Dev Disabil Res Rev 12: 270-279
8. Bailey DB, Skinner D, Davis AM, Whitmarsh I, Powell C. 2008. Ethical, legal, and social concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues. Pediatrics 121: e693-e704.
9. Bhardwaj U, Zhang YH, Lorey F, McCabe LL, McCabe ER. 2005. Molecular genetic confirmatory testing from new- born screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese b-thalassemia mutations. Am J Hematol 78: 249-255.
10. Bhattacharjee A, Sokolsky T, Wyman SK, Reese MG, Puffen-berger E, Strauss K, Morton H, Parad RB, Naylor EW. 2014. Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. Genet Med. doi: 10.1038/gim.2014.117.
11. Bombard Y, Miller FA, Hayeems RZ, Barg C, Cressman C, Carroll JC, Wilson BJ, Little J, Avard D, Painter-Main M, et al. 2014. Public views on participating in newborn screening using genome sequencing. Eur J Hum Genet 22: 1248-1254.
12. Botkin JR. 2005. Research for newborn screening: Developing a national framework. Pediatrics 116: 862-871.
13. Bunnik EM, Schermer MH, Janssens AC. 2011. Personal genome testing: Test characteristics to clarify the discourse on ethical, legal and societal issues. BMC Med Ethics 12: 11.
14. Bunnik EM, de Jong A, Nijsingh N, de Wert GM. 2013. The new genetics and informed consent: Differentiating choice to preserve autonomy. Bioethics 27: 348-355
15. Burke W, Matheny Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, et al. 2013. Recommendations for returning genomic incidental findings? We need to talk! Genet Med 15: 854-859.
16. Carrillo-Carrasco N, Venditti C. 1993. Propionic academia. In GeneReviews (ed. Pagon RA, et al.) University of Washington, Seattle, WA
17. Collins SA, Sinclair G, McIntosh S, Bamforth F, Thompson R, Sobol I, Osborne G, Corriveau A, Santos M, Hanley B, et al. 2010. Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut. Mol Genet Metab 101: 200-204.
18. Fanos JH. 1997. Developmental tasks of childhood and adolescence: Implications for genetic testing. Am J Med Genet 71: 22-28.
19. Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J. 2006. The tandemmass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis 29: 76-85.
20. Greely HT. 1998. Legal, ethical, social issues in human genome research. Annu Rev Anthropol 27: 473-502.
21. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O’Daniel JM, Ormond KE, et al. 2013. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15: 565-574.
22. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. 2006. Expanded newborn screening for biochemical disorders: The effect of a false-positive result. Pediatrics 117: 1915-1921.
23. Guthrie R, Susi A. 1963. A simple phenylalanine method for detecting phenylketonuria in large populations of new-born infants. Pediatrics 32: 338-343.
24. Hilgert N, Smith RJ, Van Camp G. 2009. Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med 9: 546-564.
25. Joint Committee on Infant Hearing; American Academy of Audiology; American Academy of Pediatrics; American Speech-Language-Hearing Association; Directors of Speech and Hearing Programs in State Health and Welfare Agencies. 2000. Principles and guidelines for early hearing detection and intervention programs. Pediatrics 106: 798-817.
26. Kemper AR, Green NS, Calonge N, Lam WK, Comeau AM, Goldenberg AJ, Ojodu J, Prosser LA, Tanksley S, Bocchin JA. 2014. Decision-making process for conditions nominated to the recommended uniform screening panel: Statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med 16: 183-187.
27. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, et al. 2014. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 312: 729-738.
28. Lantos JD. 2010. Does pediatrics need its own bioethics? Perspect Biol Med 53: 613-624.
29. Malpas PJ. 2008. Predictive genetic testing of children for adultonset diseases and psychological harm. J Med Ethics 34: 275-278.
30. Manoli I, Venditti CP. 1993. Methylmalonic acidemia. In GeneReviews (ed. Pagon RA, et al.) University of Washington, Seattle, WA. http://www.ncbi.nlm.nih.gov/books/NBK1116/.
31. Millington DS, Norwood DL, Kodo N, Roe CR, Inoue F. 1989. Application of fast atom bombardment with tandemmass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue. Anal Biochem 180: 331-339.
32. National Institutes of Health Consensus Development Panel. 2001. Phenylketonuria: Screening and management. Pediatrics 108: 972-982.
33. National Institutes of Health Consensus Development Panel. 1993. Early identification of hearing impairment in infants and young children. NIH Consensus Statement 11: 1-24
34. Nyrhinen T, Hietala M, Puukka P, Leino-Kilpi H. 2009. Are patient rights to information and self-determination in diagnostic genetic testing upheld? A comparison of patients’ and providers’ perceptions. J Genet Couns 18: 72-81.
35. Pelias MK. 2006. Genetic testing of children for adultonset diseases: Is testing in the child’s best interests? Mt Sinai J Med 73: 605-608.
36. Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH. 2012. Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Mol Genet Metab 107: 31-36.
37. Rhodes R. 2006. Why test children for adult-onset genetic diseases? Mt Sinai J Med 73: 609-616.
38. Robertson S, Savulescu J. 2001. Is there a case in favour of predictive genetic testing in young children? Bioethics 15: 26-49.
39. Ross LF, Rothstein MA, Clayton EW. 2013a. Premature guidance about wholegenome sequencing. Per Med 10. doi: 10.2217/pme.13.51.
40. Ross LF, Saal HM, David KL, Anderson RR; American Academy of Pediatrics; American College of Medical Genetics and Genomics. 2013b. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med 15: 234-245.
41. Seashore MR, Seashore CJ. 2005. Newborn screening and the pediatric practitioner. Semin Perinatol 29: 182-188
42. Skrabanek P. 1990. Why is preventive medicine exempted from ethical constraints? J Med Ethics 16: 187-190
43. Smith RJH, Sheffield AM, Van Camp G. 1993. Nonsyndromic hearing loss and deafness, DFNA3. In GeneReviews (ed. Pagon RA, et al.) University of Washington, Seattle, WA.
44. Strong KA, Zusevics KL, Bick D, Veith R. 2014. Views of primary care providers regarding the return of genome sequencing incidental findings. Clin Genet 86: 461-468
45. Tarini BA, Goldenberg AJ. 2012. Ethical issues with new-born screening in the genomics era. Annu Rev Genomics Hum Genet 13: 381-393.
46. Taylor HA, Wilfond BS. 2004. Ethical issues in newborn screening research: Lessons from the Wisconsin cystic fibrosis trial. J Peds 145: 292-296.
47. Utz JR, Lorentz CP, Markowitz D, Rudser KD, Diethelm-Okita B, Erickson D, Whitley CB. 2012. START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients. Molec Genet Metab 105: 193-197.
48. Vohr BR, JodoinVohr BR, Jodoin-Krauzyk J, Tucker R, Johnson MJ, Topol D, Ahlgren M. 2008. Results of newborn screening for hearing loss: Effects on the family in the first 2 years of life. Arch Pediatr Adolesc Med 162: 205-211.
49. Wertz DC, Fanos JH, Reilly PR. 1994. Genetic testing for children and adolescents. Who decides? JAMA 272: 875-881.
50. White KR. 2004. Early hearing detection and intervention programs: Opportunities for genetic services. Am J Med Genet Part A 130A: 29-36.
51. Wilson JMG, Jungner G. 1968. Principles and practice of screening for disease. Public Health Papers (34), World Health Organization.
52. Young NM, Reilly BK, Burke L. 2011. Limitations of universal newborn hearing screening in early identification of pediatric cochlear implant candidates. Arch Otolaryngol Head Neck Surg 137: 230-234.
53. Yu JH, Harrell TM, Jamal SM, Tabor HK, Bamshad MJ. 2014. Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am J Hum Genet 95: 77-84.