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REVIEW

Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

ORCID Icon, , ORCID Icon, ORCID Icon & ORCID Icon
Pages 681-691 | Received 08 Feb 2023, Accepted 19 Jun 2023, Published online: 01 Jul 2023

References

  • Berg JS, Agrawal PB, Bailey DB, et al. Newborn sequencing in genomic medicine and public health. Pediatrics. 2017;139(2). doi:10.1542/peds.2016-2252
  • O’Leary P, Maxwell S. Newborn bloodspot screening policy framework for Australia. Australas Med J. 2015;8(9):292–298. doi:10.4066/amj.2015.2482
  • Powell CM. What is newborn screening? N C Med J. 2019;80(1):32–36. doi:10.18043/ncm.80.1.32
  • Therrell BL, Padilla CD. Newborn screening in the developing countries. Curr Opin Pediatr. 2018;30(6):734–739. doi:10.1097/mop.0000000000000683
  • Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015;39(3):171–187. doi:10.1053/j.semperi.2015.03.002
  • Wilcken B, Wiley V. Fifty years of newborn screening. J Paediatr Child Health. 2015;51(1):103–107. doi:10.1111/jpc.12817
  • Hussain Z. Over £175m investment in genomic research aims to detect more genetic disorders at birth. BMJ. 2022;379:o2996. doi:10.1136/bmj.o2996
  • Patel KP, Ruiz-Cordero R, Chen W, et al. Ultra-Rapid Reporting of GENomic Targets (URGENTseq): clinical next-generation sequencing results within 48 hours of sample collection. J Mol Diagnos. 2019;21(1):89–98. doi:10.1016/j.jmoldx.2018.08.002
  • Goenka SD, Gorzynski JE, Shafin K, et al. Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. Nat Biotechnol. 2022;40(7):1035–1041. doi:10.1038/s41587-022-01221-5
  • Kingsmore SF, Cakici JA, Clark MM, et al. A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants. Am J Hum Genet. 2019;105(4):719–733. doi:10.1016/j.ajhg.2019.08.009
  • Lunke S, Eggers S, Wilson M, et al. Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system. JAMA. 2020;323(24):2503–2511. doi:10.1001/jama.2020.7671
  • Dimmock DP, Clark MM, Gaughran M, et al. An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm. Am J Hum Genet. 2020;107(5):942–952. doi:10.1016/j.ajhg.2020.10.003
  • Denommé-Pichon AS, Vitobello A, Olaso R, et al. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. Eur J Human Genet. 2022;30(5):567–576. doi:10.1038/s41431-021-00998-4
  • Kraft SA, Duenas D, Wilfond BS, Goddard KAB. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet Med. 2019;21(4):790–797. doi:10.1038/s41436-018-0273-4
  • Archibald AD, McClaren BJ, Caruana J, et al. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): design and implementation. J Personal Med. 2022;12(11):1781.
  • Rowe CA, Wright CF. Expanded universal carrier screening and its implementation within a publicly funded healthcare service. J Community Genet. 2020;11(1):21–38. doi:10.1007/s12687-019-00443-6
  • Dive L, Newson AJ. Ethics of reproductive genetic carrier screening: from the clinic to the population. Public Health Ethics. 2021;14(2):202–217. doi:10.1093/phe/phab017
  • Dive L, Archibald AD, Newson AJ. Ethical considerations in gene selection for reproductive carrier screening. Hum Genet. 2022;141(5):1003–1012. doi:10.1007/s00439-021-02341-9
  • Newson AJ. The promise of public health ethics for precision medicine: the case of newborn preventive genomic sequencing. Hum Genet. 2022;141(5):1035–1043. doi:10.1007/s00439-021-02269-0
  • 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
  • Kirk EP, Ong R, Boggs K, et al. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”). Eur J Human Genet. 2021;29(1):79–87. doi:10.1038/s41431-020-0685-x
  • Davidov B, Levon A, Volkov H, et al. Pathogenic variant-based preconception carrier screening in the Israeli Jewish population. Clin Genet. 2022;101(5–6):517–529. doi:10.1111/cge.14131
  • Wilson J, Jungner G. Principles and Practice of Screening for Disease. World Health Organization; 1968.
  • King JR, Notarangelo LD, Hammarström L. An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity. J Allergy Clin Immunol. 2021;147(2):428–438. doi:10.1016/j.jaci.2020.12.633
  • Andermann A, Blancquaert I, Beauchamp S, Costea I. Guiding policy decisions for genetic screening: developing a systematic and transparent approach. Public Health Genomics. 2011;14(1):9–16. doi:10.1159/000272898
  • Andermann A, Blancquaert I, Beauchamp S, Déry V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ. 2008;86(4):317–319. doi:10.2471/blt.07.050112
  • Genomics England. New public dialogue finds support for the use of whole genome sequencing in newborn screening – providing that the right safeguards and resources are in place. Available from: https://www.genomicsengland.co.uk/news/public-dialogue-genomics-newborn-screening. Accessed June 20, 2023.
  • Cao M, Notini L, Ayres S, Vears DF. Australian healthcare professionals’ perspectives on the ethical and practical issues associated with genomic newborn screening. J Genet Couns. 2022;32(2):376–386. doi:10.1002/jgc4.1645
  • Ulm E, Feero WG, Dineen R, Charrow J, Wicklund C. Genetics professionals’ opinions of whole-genome sequencing in the newborn period. J Genet Couns. 2015;24(3):452–463. doi:10.1007/s10897-014-9779-3
  • Boardman FK, Clark CC. What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions. Eur J Human Genet. 2022;30(2):160–169. doi:10.1038/s41431-021-00962-2
  • Franková V, Driscoll RO, Jansen ME, et al. Regulatory landscape of providing information on newborn screening to parents across Europe. Eur J Human Genet. 2021;29(1):67–78. doi:10.1038/s41431-020-00716-6
  • Nicholls SG, Etchegary H, Tessier L, et al. What is in a name? Parent, professional and policy-maker conceptions of consent-related language in the context of newborn screening. Public Health Ethics. 2019;12(2):158–175. doi:10.1093/phe/phz003
  • Etchegary H, Nicholls SG, Tessier L, et al. Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice. Eur J Human Genet. 2016;24(11):1530–1534. doi:10.1038/ejhg.2016.55
  • King E, Halliday J, Archibald AD, et al. Development and use of the Australian reproductive genetic carrier screening decision aid. Eur J Human Genet. 2022;30(2):194–202. doi:10.1038/s41431-021-00991-x
  • Shickh S, Hirjikaka D, Clausen M, et al. Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery. BMJ open. 2022;12(4):e060899. doi:10.1136/bmjopen-2022-060899
  • Bombard Y, Clausen M, Shickh S, et al. Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial. Genet Med. 2020;22(4):727–735. doi:10.1038/s41436-019-0702-z
  • Bouffler SE et al . (2023). Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol. BMJ Open, 13(6), e072999 10.1136/bmjopen-2023-072999
  • Horton R, Lucassen A. Ethical Considerations in Research with Genomic Data. New Bioeth. 2022;1–15. doi:10.1080/20502877.2022.2060590
  • Newson A. Should parental refusals of newborn screening be respected? Cambridge Quarter Healthcare Ethics. 2006;15(2):135–146. doi:10.1017/s0963180106060166
  • Paul D. Contesting consent: the challenge to compulsory neonatal screening for PKU. Perspect Biol Med. 1999;42(2):207–219. doi:10.1353/pbm.1999.0032
  • Gillam L. The zone of parental discretion: an ethical tool for dealing with disagreement between parents and doctors about medical treatment for a child. Clin Ethics. 2016;11:1–8. doi:10.1177/1477750915622033
  • Vears DF. Should we respect parents’ views about which results to return from genomic sequencing? Hum Genet. 2022;141(5):1059–1068. doi:10.1007/s00439-021-02293-0
  • Gyngell C, Lynch F, Stark Z, Vears D. Consent for rapid genomic sequencing for critically ill children: legal and ethical issues. Monash Bioeth Rev. 2021;39(Suppl 1):117–129. doi:10.1007/s40592-021-00146-0
  • Taylor-Robinson D, Kee F. Precision public health-The Emperor’s new clothes. Int J Epidemiol. 2019;48(1):1–6. doi:10.1093/ije/dyy184
  • Notini L, Gaff C, Savulescu J, Vears DF. Offering and returning secondary findings in the context of exome sequencing for hearing loss: clinicians’ views and experiences. AJOB Empir Bioethics. 2023;1–10. doi:10.1080/23294515.2022.2160507
  • Anderson JA, Meyn MS, Shuman C, et al. Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? J Med Ethics. 2017;43(8):535–539. doi:10.1136/medethics-2016-103564
  • Downie L, Halliday J, Lewis S, et al. Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project. Genet Med. 2020;22(5):937–944. doi:10.1038/s41436-019-0745-1
  • Schmidt JL, Castellanos-Brown K, Childress S, et al. The impact of false-positive newborn screening results on families: a qualitative study. Genet Med. 2012;14(1):76–80. doi:10.1038/gim.2011.5
  • Conway M, Vuong TT, Hart K, Rohrwasser A, Eilbeck K. Pain points in parents’ interactions with newborn screening systems: a qualitative study. BMC Pediatr. 2022;22(1):167. doi:10.1186/s12887-022-03160-1
  • Bowman-Smart H, Vears DF, Brett GR, Martyn M, Stark Z, Gyngell C. ‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning. Eur J Human Genet. 2022;30(9):1036–1043. doi:10.1038/s41431-022-01140-8
  • Notini L, Gaff CL, Savulescu J, Vears DF. Clinicians’ views and experiences with offering and returning results from exome sequencing to parents of infants with hearing loss. J Clin Med. 2021;11(1):35. doi:10.3390/jcm11010035
  • Preston J, VanZeeland A, Peiffer DA. Innovation at Illumina: the road to the $600 human genome. Nature Portfolio; 2021.
  • Howard HC, Knoppers BM, Cornel MC, et al. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur J Human Genet. 2015;23(12):1593–1600. doi:10.1038/ejhg.2014.289
  • Appelbaum PS, Parens E, Berger SM, Chung WK, Burke W. Is there a duty to reinterpret genetic data? The ethical dimensions. Genet Med. 2020;22(3):633–639. doi:10.1038/s41436-019-0679-7
  • Rahimzadeh V, Friedman JM, de Wert G, Knoppers BM. Exome/genome-wide testing in newborn screening: a proportionate path forward. Perspective. Front Genet. 2022;13. doi:10.3389/fgene.2022.865400