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“We’ve opened pandora’s box, haven’t we?” clinical geneticists’ views on ethical aspects of genomic testing in neonatal intensive care Cover

“We’ve opened pandora’s box, haven’t we?” clinical geneticists’ views on ethical aspects of genomic testing in neonatal intensive care

By: T Arsov  
Open Access
|Mar 2023

References

  1. National Human Genome Research Institute. Fact sheet: The cost of sequencing a human genome. 2019 September 2019]; Available from: https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost
  2. van Nimwegen, K.J., et al., Is the $1000 genome as near as we think? A cost analysis of next-generation sequencing. Clin Chem, 2016. 62(11): p. 1458-1464.
  3. Retterer, K., et al., Clinical application of wholeexome sequencing across clinical indications. Genet Med, 2016. 18(7): p. 696-704.
  4. Wright, C.F., D.R. FitzPatrick, and H.V. Firth, Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet, 2018. 19(5): p. 253-268.
  5. Lionel, A.C., et al., Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med, 2018. 20(4): p. 435-443.
  6. Meng, L., et al., Use of exome sequencing for infants in intensive care units: Ascertainment of severe single-gene disorders and effect on medical management. JAMA Pediatr, 2017. 171(12): p. e173438.
  7. Willig, L.K., et al., Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med, 2015. 3(5): p. 377-387.
  8. Elliott, A.M., et al., RAPIDOMICS: rapid genomewide sequencing in a neonatal intensive care unit-successes and challenges. Eur J Pediatr, 2019. 178(8): p. 1207-1218.
  9. Gubbels, C.S., et al., Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med, 2019.
  10. van der Sluijs, P.J., et al., Putting genome-wide sequencing in neonates into perspective. Genet Med, 2019. 21(5): p. 1074-1082.
  11. Miller, N.A., et al., A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Med, 2015. 7: p. 100.
  12. Farnaes, L., et al., Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med, 2018. 3: p. 10.
  13. Stark, Z., et al., Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genet Med, 2018. 20: p. 1554-1563.
  14. Stark, Z., et al., Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med, 2017. 19(8): p. 867-874.
  15. Stark, Z., et al., Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genet Med, 2019. 21: p. 173-180.
  16. Amendola, L.M., et al., Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet, 2016. 98(6): p. 1067-1076.
  17. Bland, A., et al., Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience. Genet Med, 2018. 20(3): p. 369-373.
  18. American Academy of Pediatrics and American College of Medical Genetics, Ethical and policy issues in genetic testing and screening of children. Pediatrics, 2013. 131(3): p. 620-622.
  19. Botkin, J.R., et al., Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet, 2015. 97(1): p. 6-21.
  20. Newson, A.J. and L. Schonstein, Genomic testing in the paediatric population: Ethical considerations in light of recent policy statements. Mol Diagn Ther, 2016. 20(5): p. 407-14.
  21. Ross, L.F., et al., Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med, 2013. 15(3): p. 234-245.
  22. Deem, M.J., Whole-genome sequencing and disability in the NICU: Exploring practical and ethical challenges. Pediatrics, 2016. 137 Suppl 1: p. S47-55.
  23. Gyngell, C., et al., Rapid challenges: ethics and genomics in neonatal intensive care. Paediatrics, 2019. 143(Suppl 1): p. S14-21.
  24. Wilkinson, D.J., et al., Genomic intensive care: should we perform genome testing in critically ill newborns? Arch Dis Child Fetal Neonatal Ed, 2016. 101(2): p. F94-98.
  25. Frankel, L.A., S. Pereira, and A.L. McGuire, Potential psychosocial risks of sequencing newborns. Pediatrics, 2016. 137 Suppl 1: p. S24-29.
  26. Szego, M.J., et al., Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics. Eur J Med Genet, 2019. 62(5): p. 350-356.
  27. Knapp, B., C. Decker, and J.D. Lantos, Neonatologists’ attitudes about diagnostic whole-genome sequencing in the NICU. Pediatrics, 2019. 143(Suppl 1): p. S54-S57.
  28. Stark, Z., et al., Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care. Eur J Hum Genet, 2019. 27(10): p. 1493-1501.
  29. Braun, V. and V. Clarke, Using thematic analysis in psychology. Qual Res Psychol, 2006. 3(2): p. 77-101.
  30. Mays, N. and C. Pope, Rigour and qualitative research. BMJ, 1995. 311(6997): p. 109-112.
  31. Mays, N. and C. Pope, Qualitative research in health care. Assessing quality in qualitative research. BMJ, 2000. 320(7226): p. 50-52.
  32. Morley, G., et al., What is ‘moral distress’? A narrative synthesis of the literature. Nurs Ethics, 2019. 26(3): p. 646-662.
  33. Dive, L. and A.J. Newson, Reconceptualizing Autonomy for Bioethics. Kennedy Inst Ethics J, 2018. 28(2): p. 171-203.
  34. Burke, K. and A. Clarke, The challenge of consent in clinical genome-wide testing. Arch Dis Child, 2016. 101(11): p. 1048-1052.
Language: English
Page range: 5 - 12
Published on: Mar 1, 2023
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2023 T Arsov, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.