State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies.
Journal
Journal of the American Society of Nephrology : JASN
ISSN: 1533-3450
Titre abrégé: J Am Soc Nephrol
Pays: United States
ID NLM: 9013836
Informations de publication
Date de publication:
01 Feb 2024
01 Feb 2024
Historique:
received:
19
08
2023
accepted:
03
10
2023
pmc-release:
01
02
2025
medline:
2
2
2024
pubmed:
26
10
2023
entrez:
26
10
2023
Statut:
ppublish
Résumé
There is a broad phenotypic spectrum of monogenic polycystic kidney diseases (PKDs). These disorders often involve cilia-related genes and lead to the development of fluid-filled cysts and eventual kidney function decline and failure. Preimplantation genetic testing for monogenic (PGT-M) disorders has moved into the clinical realm. It allows prospective parents to avoid passing on heritable diseases to their children, including monogenic PKD. The PGT-M process involves embryo generation through in vitro fertilization, with subsequent testing of embryos and selective transfer of those that do not harbor the specific disease-causing variant(s). There is a growing body of literature supporting the success of PGT-M for autosomal-dominant and autosomal-recessive PKD, although with important technical limitations in some cases. This technology can be applied to many other types of monogenic PKD and ciliopathies despite the lack of existing reports in the literature. PGT-M for monogenic PKD, like other forms of assisted reproductive technology, raises important ethical questions. When considering PGT-M for kidney diseases, as well as the potential to avoid disease in future generations, there are regulatory and ethical considerations. These include limited government regulation and unstandardized consent processes, potential technical errors, high cost and equity concerns, risks associated with pregnancy for mothers with kidney disease, and the impact on all involved in the process, including the children who were made possible with this technology.
Identifiants
pubmed: 37882743
doi: 10.1681/ASN.0000000000000253
pii: 00001751-990000000-00206
pmc: PMC10843344
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
235-248Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK058816
Pays : United States
Informations de copyright
Copyright © 2023 by the American Society of Nephrology.
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