A Children’s Rights Framework for Genomic Medicine: Newborn Screening as a Use Case
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Mar 26, 2024
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Abstract
The year 2023 marked the 60th anniversary of screening newborns in the United States for diseases that benefit from early identification and intervention. All around the world, the goal of NBS is to facilitate timely diagnosis and management to improve individual health outcomes in all newborns regardless of their place of birth, economic circumstances, ability to pay for treatment, and access to healthcare. Advances in technology to screen and treat disease have led to a rapid increase in the number of screened conditions, and innovations in genomics are expected to exponentially expand this number further. A system where all newborns are screened, coupled with rapid technological innovation, provides a unique opportunity to improve pediatric health outcomes and advance children’s rights, including the unique rights of sick and disabled children. This is especially timely as we approach the 100th anniversary of the 1924 Geneva Declaration of the Rights of the Child, which includes children’s right to healthcare, and the 1989 United Nations Convention on the Rights of the Child that expanded upon this aspect and affirmed each child’s right to the highest attainable standard of health. In this manuscript, we provide background on the evolving recognition of the rights of children and the foundational rights to healthcare and non-discrimination, provide two examples that highlight issues to access and equity in newborn screening that may limit a child’s right to healthcare and best possible outcomes, detail ways the current approach to newborn screening advances the rights of the child, and finally, propose that the incorporation of genomics into newborn screening presents a useful case study to recognize and uphold the rights of every child.
Keywords:
ethics; genomic medicine; health outcomes; precision medicine; social determinants of health; children’s rights, law, policy, and human rights
Article Details
How to Cite
BRUNELLI, Luca et al.
A Children’s Rights Framework for Genomic Medicine: Newborn Screening as a Use Case.
Medical Research Archives, [S.l.], v. 12, n. 3, mar. 2024.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/5167>. Date accessed: 21 dec. 2024.
doi: https://doi.org/10.18103/mra.v12i3.5167.
Section
Research Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
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48. Holte L, Walker E, Oleson J, et al. Factors Influencing Follow-Up to Newborn Hearing Screening for Infants Who Are Hard of Hearing. Am J Audiol. 2012;21(2):163-174. doi:10.1044/1059-0889(2012/12-0016)
49. McColley SA, Martiniano SL, Ren CL, et al. Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening. Journal of Cystic Fibrosis. 2023;22 (1):89-97. doi:10.1016/j.jcf.2022.07.010
50. Hoff T, Hoyt A, Therrell B, Ayoob M. Exploring barriers to long-term follow-up in newborn screening programs. Genetics in Medicine. 2006;8(9):563-570. doi:10.1097/01.gim.0000237790.54074.3d
51. Brosco JP, Grosse SD, Ross LF. Universal State Newborn Screening Programs Can Reduce Health Disparities. JAMA Pediatr. 2015;169(1):7. doi:10.1001/jamapediatrics.2014.2465
52. Sohn H, Timmermans S. Inequities in newborn screening: Race and the role of medicaid☆. SSM - Population Health. 2019;9:100496. doi:10.1016/j.ssmph.2019.100496
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56. Khoury MJ, Bowen S, Dotson WD, et al. Health equity in the implementation of genomics and precision medicine: A public health imperative. Genetics in Medicine. 2022;24(8):1630-1639.
2. Geneva Declaration of the Rights of the Child, Sept. 26, 1924, League of Nations, O.J. Spec. Supp. 21 at 43 (1924).
3. Declaration of the Rights of the Child, G.A. Res. 1386 (XIV), GAOR 14th Sess., Supp. No. 16, U.N. Doc. A/4249 (Nov. 20, 1959).
4. Convention on the Rights of the Child, Opened for Signature Nov. 20, 1989, 1577 U.N.T.S. 3.
5. McGough M, Telesford I, Rakshit S, Wager E, Amin K, Cox C. PETERSON-KFF health system tracker. How does health spending in the US compare to other countries? https://www.healthsystemtracker.org/chart-collection/health-spending-u-s-compare-coun tries/.
6. Isaacs JB, Lou C, Hahn H, Lauderback E, Quakenbush C, Steuerle CE. Kids’ Share 2019: Report on Federal Expenditures on Children through 2018 and Future Projections. Urban Institute. 2019.
7. Thakrar AP, Forrest AD, Maltenfort MG, Forrest CB. Child mortality in the US and 19 OECD comparator nations: a 50-year time-trend analysis. Health Affairs. 2018;37(1):140-149.
8. Adamson P. Child Well-Being in Rich Countries: A Comparative Overview. Innocenti Report Card 11. UNICEF. 2013.
9. Clark H, Coll-Seck AM, Banerjee A, et al. A future for the world’s children? A WHO–UNICEF–Lancet Commission. The Lancet. 2020;395(10224):605-658.
10. Council NR, Population C on. US health in international perspective: Shorter lives, poorer health. 2013.
11. Schneider EC, Shah A, Doty MM, et al. Reflecting Poorly: Health Care in the US Compared to Other High-Income Countries. New York: The Commonwealth Fund. 2021.
12. Adler NE, Cutler DM, Fielding JE, et al. Addressing Social Determinants of Health and Health Disparities: A Vital Direction for Health and Health Care. NAM Perspectives. 2016; 6(9). doi:10.31478/201609t
13. Gibbs RA. The human genome project changed everything. Nature Reviews Genetics. 2020;21(10):575-576.
14. Singu S, Acharya A, Challagundla K, Byrareddy SN. Impact of social determinants of health on the emerging COVID-19 pandemic in the United States. Frontiers in public health. 2020;8:406.
15. Tabery J. Tyranny of the Gene: Personalized Medicine and Its Threat to Public Health. Knopf; 2023.
16. Collins FS, Green ED, Guttmacher AE, Guyer MS, Institute UNHGR. A vision for the future of genomics research. nature. 2003;422(6934):835-847.
17. Green ED, Gunter C, Biesecker LG, et al. Strategic vision for improving human health at The Forefront of Genomics. Nature. 2020; 586(7831):683-692.
18. Allan KM, Farrow N, Donnelley M, Jaffe A, Waters SA. Treatment of Cystic Fibrosis: From Gene- to Cell-Based Therapies. Front Pharmacol. 2021;12:639475. doi:10.3389/fphar.2021.639475
19. Ogbonmide T, Rathore R, Rangrej SB, et al. Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma). Cureus. 2023;15 (3):e36197. doi:10.7759/cureus.36197
20. Dimmock D, Caylor S, Waldman B, et al. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. The American Journal of Human Genetics. 2021; 108(7):1231-1238. doi:10.1016/j.ajhg.2021.05.008
21. Kingsmore SF, Smith LD, Kunard CM, et al. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am J Hum Genet. 2022;109(9):1605-1619. doi:10.1016/j.ajhg.2022.08.003
22. Berg JS, Agrawal PB, Bailey DB, et al. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017;139(2): e20162252. doi:10.1542/peds.2016-2252
23. The BabySeq Project Team, Holm IA, Agrawal PB, et al. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018;18(1):225. doi:10.1186/s12887-018-1200-1
24. Adhikari AN, Gallagher RC, Wang Y, et al. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020;26(9):1392-1397. doi:10.1038/s41591-020-0966-5
25. Office of the United Nations High Commissioner for Human Rights, Legislative History of the Convention on the Rights of the Child, Vol. 1, at Iii, U.N. Doc. HR/PUB/07/1 (2007); Cynthia Price Cohen, Role of the United States in Drafting the Convention on the Rights of the Child: Creating A New World For Children, 4 Loy. Poverty L.J. 9 (1998).
26. Haggerty RJ. The Convention on the Rights of the Child: it’s time for the United States to ratify. Pediatrics. 1994;94(5):746-747.
27. Granado-Villar DC, Brown JM, Cotton WH, et al. Policy statement-health equity and children’s rights. Pediatrics. 2010;125(4):838-849.
28. Edwards TL, Breeyear J, Piekos JA, Edwards DRV. Equity in health: consideration of race and ethnicity in precision medicine. Trends in Genetics. 2020;36(11):807-809.
29. Landry LG, Ali N, Williams DR, Rehm HL, Bonham VL. Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice. Health Affairs. 2018;37(5):780-785. doi:10.1377/hlthaff.2017.1595
30. Cooke Bailey JN, Bush WS, Crawford DC. Editorial: The Importance of Diversity in Precision Medicine Research. Front Genet. 2020;11:875. doi:10.3389/fgene.2020.00875
31. Keck School News. The Path to Personalized Medicine for Everyone. June 2021. https://keck.usc.edu/the-path-to-personalized-medicine-for-everyone/. Accessed November 10, 2023.
32. Wailoo K, Pemberton S. The Troubled Dream of Genetic Medicine: Ethnicity and Innovation in Tay-Sachs, Cystic Fibrosis, and Sickle Cell Disease. JHU Press; 2006.
33. Wailoo K. Dying in the City of the Blues: Sickle Cell Anemia and the Politics of Race and Health. UNC Press Books; 2014.
34. Benson JM, Therrell Jr BL. History and current status of newborn screening for hemoglobinopathies. In: Seminars in Perinatology. Vol 34. Elsevier; 2010:134-144.
35. Sontag MK, Miller JI, McKasson S, et al. Newborn screening for cystic fibrosis: a qualitative study of successes and challenges from universal screening in the United States. International Journal of Neonatal Screening. 2022;8(3):38.
36. Strouse JJ, Lobner K, Lanzkron S, Haywood Jr C. NIH and national foundation expenditures for sickle cell disease and cystic fibrosis are associated with PubMed publications and FDA approvals. Blood. 2013;122(21): 1739.
37. Farooq F, Strouse JJ. Disparities in foundation and Federal Support and development of new therapeutics for sickle cell disease and cystic fibrosis. 2018.
38. Farooq F, Mogayzel PJ, Lanzkron S, Haywood C, Strouse JJ. Comparison of US federal and foundation funding of research for sickle cell disease and cystic fibrosis and factors associated with research productivity. JAMA network open. 2020;3(3):e201737-e201737.
39. Geneviève LD, Martani A, Shaw D, Elger BS, Wangmo T. Structural racism in precision medicine: leaving no one behind. BMC Medical Ethics. 2020;21:1-13.
40. Konkel L. WHO will benefit from precision medicine. UCSF Magazine Winter. 2020:1-19.
41. Marcus MB. Precision Medicine Initiative Aims to Revolutionize Health Care. February 2016. https://www.cbsnews.com/news/presidents-precision-medicine-initiative-is-propelling-forward.
42. Lu CY, Terry V, Thomas DM. Precision medicine: affording the successes of science. NPJ Precision Oncology. 2023;7(1):3.
43. Grosse SD, Hannon WH. Using tandem mass spectrometry for metabolic disease screening among newborns; a report of a Work Group. 2001.
44. Bick D, Ahmed A, Deen D, et al. Newborn Screening by Genomic Sequencing: Opportunities and Challenges. Int J Neonatal Screen. 2022;8(3). doi:10.3390/ijns8030040
45. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963;32(3):338-343.
46. Watson MS, Lloyd-Puryear MA, Howell RR. The Progress and Future of US Newborn Screening. Int J Neonatal Screen. 2022;8(3). doi:10.3390/ijns8030041
47. Sontag MK, Yusuf C, Grosse SD, et al. Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017. MMWR Morb Mortal Wkly Rep. 2020;69(36):1265-1268. doi:10.15585/mmwr.mm6936a6
48. Holte L, Walker E, Oleson J, et al. Factors Influencing Follow-Up to Newborn Hearing Screening for Infants Who Are Hard of Hearing. Am J Audiol. 2012;21(2):163-174. doi:10.1044/1059-0889(2012/12-0016)
49. McColley SA, Martiniano SL, Ren CL, et al. Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening. Journal of Cystic Fibrosis. 2023;22 (1):89-97. doi:10.1016/j.jcf.2022.07.010
50. Hoff T, Hoyt A, Therrell B, Ayoob M. Exploring barriers to long-term follow-up in newborn screening programs. Genetics in Medicine. 2006;8(9):563-570. doi:10.1097/01.gim.0000237790.54074.3d
51. Brosco JP, Grosse SD, Ross LF. Universal State Newborn Screening Programs Can Reduce Health Disparities. JAMA Pediatr. 2015;169(1):7. doi:10.1001/jamapediatrics.2014.2465
52. Sohn H, Timmermans S. Inequities in newborn screening: Race and the role of medicaid☆. SSM - Population Health. 2019;9:100496. doi:10.1016/j.ssmph.2019.100496
53. Brunelli L, Sohn H, Brower A. Newborn sequencing is only part of the solution for better child health. The Lancet Regional Health–Americas. 2023;25.
54. Seydel C. Baby’s first genome. Nat Biotechnol. 2022;40(5):636-640. doi:10.1038/s41587-022-01306-1
55. Kaiser J. Sequencing projects will screen 200,000 newborns for disease. Science. 2022;378(6625):1159-1159. doi:10.1126/science.adg2858
56. Khoury MJ, Bowen S, Dotson WD, et al. Health equity in the implementation of genomics and precision medicine: A public health imperative. Genetics in Medicine. 2022;24(8):1630-1639.