OpenLB
Open Library of Bioscience

Editorial: severity in a genomic age.

Abstract

No abstract text available.

References

1. Dive L, Archibald AD, Newson AJ. Ethical considerations in gene selection for reproductive carrier screening. Hum Genet. 2021;141:1003���12. [DOI: 10.1007/s00439-021-02341-9]
2. Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, et al. Gene selection for the Australian reproductive genetic carrier screening project (���Mackenzie���s Mission ���). Eur J Hum Genet. 2021;29:79���87. [DOI: 10.1038/s41431-020-0685-x]
3. Vears D, Amor DJ. A framework for reporting secondary and incidental findings in prenatal sequencing: when and for whom? Prenat Diagn. 2022;42:697���704. https://doi.org/10.1002/pd.6097 . [DOI: 10.1002/pd.6097]
4. NHS England. 2022. Accelerating genomic medicine in the NHS, https://www.england.nhs.uk/long-read/accelerating-genomic-medicine-in-the-nhs/ .
5. Brocher Foundation, Conceptualising Severity in a Genomic Age, 2023. https://fondation-brocher.ch/event/conceptualising-severity-in-a-genomic-age/ .
6. Kleiderman E, Boardman FK, Newson AJ, Laberge AM, Knoppers BM, Ravitsky V. Unpacking the notion of ���serious��� genetic conditions: towards implementation in reproductive decision-making? Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01681-0 .
7. Dive L, Laberge, AM, Freeman, L, Bunnik EM. Beyond severity: utility as a criterion for setting the scope of RGCS. Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01640-9 .
8. Kleiderman E, Ravitsky V, Knoppers BM. The ���serious��� factor in germline modification. J Med. Ethics. 2019;45:508���13. [DOI: 10.1136/medethics-2019-105436]
9. Boardman FK, Clark CC. What is a ���serious��� genetic condition? The perceptions of people living with genetic conditions. Eur J Hum Genet. 2022;30:160���9. [DOI: 10.1038/s41431-021-00962-2]
10. Freeman K, Dinnes J, Shinkins B, Clark C, Kander I, Scandrett K, et al. Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews, medRxiv. 2024.09.03.24312979; https://doi.org/10.1101/2024.09.03.24312979 .
11. Vona B. Rethinking non-syndromic hearing loss and its mimics in the genomic era. Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01579-x .
12. Kriukelis R, Gabbett MT, Beswick R, McInerney-Leo AM, Driscoll C, Liddle K. The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates. Eur J Human Genet. 2024 Mar 15. https://doi.org/10.1038/s41431-024-01584-0 .
13. Freeman L, Archibald AD, Dive L, Delatycki MB, Kirk EP, Laing N, et al. Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions. Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01738-0 .
14. Swainson E, Tutty E, Freeman L. et al. Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01742-4 .
15. Kaur A. Severity in the genomic age: the significance of lived experience to understandings of severity. Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01652-5 .
16. Gallois H, Ravitsky V, Roy MC, Laberge AM. Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing. Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01714-8 .
17. Lazarin GA, Hawthorne F, Collins NS, Platt EA, Evans EA, Haque IS. Systematic classification of disease severity for evaluation of expanded carrier screening panels. PLoS ONE. 2014;9:10. [DOI: 10.1371/journal.pone.0114391]
18. Taylor-Sands M, Johnston M, Mills C. Should the scope of NIPT be limited by a ���threshold of seriousness���? Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01684-x .
19. King E, Halliday J, Archibald AD, Delatycki M, Barlow-Stewart K, Newson AJ, et al. Development and use of the Australian reproductive genetic carrier screening decision aid. Eur J Hum Genet. 2022;30:194���202. [DOI: 10.1038/s41431-021-00991-x]
20. Nov-Klaiman T, Bowman-Smart H, Horn R. Negotiating severity behind the scenes: prenatal testing in Germany. Eur. J of Human Genet. 2024. https://doi.org/10.1038/s41431-024-01612-z .
21. Raz A. Negotiating ���severity��� in plain sight. Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01685-w .
22. Boardman F, Horn R. Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing. Eur J Hum Genet. 2023;31:134���5. [DOI: 10.1038/s41431-022-01225-4]
23. Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2018;38:10���19. https://doi.org/10.1002/pd.5102 . [DOI: 10.1002/pd.5102]
24. Knoppers BM, Bonilha AE, Laberge, AM, Ahmed A, Newson A Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found. Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01677-w .
25. Lucassen A, Horton R Balancing the rights of the pre-symptomatic child to be found with the risk of harm to others from the screening process. Eur J Human Genet. 2024. https://doi.org/10.1038/s41431-024-01689-6 .