
“WE’VE OPENED PANDORA’S BOX, HAVEN’T WE?”
CLINICAL GENETICISTS’ VIEWS ON ETHICAL ASPECTS
OF GENOMIC TESTING IN NEONATAL INTENSIVE CARE Arsov T.1,2 *Corresponding Author: Todor Arsov, MD, PhD, Faculty of Medical Sciences, University Goce Delchev
in Shtip, North Macedonia, E-mail: todor.arsov@ugd.edu.mk page: 8
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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 unitsuccesses
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 costeffectiveness
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 ACMGAMP
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.
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