Abstract
Precision Medicine holds promise for helping us manage specific phenotypes of common
diseases. For rare diseases such as hypospadias, DSD, and pediatric solid tumors,
it can also reveal underlying risk factors and pathogenesis. Professors Ann Nordgren
and Anna Lindstrand share their experiences in the development and ongoing initiatives
of the Swedish national project on Precision Medicine and how it could change the
care of pediatric urology patients.
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References
- Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.Genome Med. 2021; 13: 40
- How geneticists think about differences/disorders of sexual development: A conversation.J Pediatr Urol. 2020; 16: 760-767
- From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation in underlying intellectual disability.Genome Med. 2019; 11: 68
- Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.Mol Genet Genomic Med. 2019; 7: e666
Article info
Publication history
Accepted:
March 7,
2023
Received in revised form:
March 6,
2023
Received:
February 9,
2023
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 Published by Elsevier Ltd on behalf of Journal of Pediatric Urology Company.
