Steps to Improve Precision Medicine in Epilepsy.


Journal

Molecular diagnosis & therapy
ISSN: 1179-2000
Titre abrégé: Mol Diagn Ther
Pays: New Zealand
ID NLM: 101264260

Informations de publication

Date de publication:
Nov 2023
Historique:
accepted: 29 08 2023
pubmed: 27 9 2023
medline: 27 9 2023
entrez: 27 9 2023
Statut: ppublish

Résumé

Precision medicine is an old concept, but it is not widely applied across human health conditions as yet. Numerous attempts have been made to apply precision medicine in epilepsy, this has been based on a better understanding of aetiological mechanisms and deconstructing disease into multiple biological subsets. The scope of precision medicine is to provide effective strategies for treating individual patients with specific agent(s) that are likely to work best based on the causal biological make-up. We provide an overview of the main applications of precision medicine in epilepsy, including the current limitations and pitfalls, and propose potential strategies for implementation and to achieve a higher rate of success in patient care. Such strategies include establishing a definition of precision medicine and its outcomes; learning from past experiences, from failures and from other fields (e.g. oncology); using appropriate precision medicine strategies (e.g. drug repurposing versus traditional drug discovery process); and using adequate methods to assess efficacy (e.g. randomised controlled trials versus alternative trial designs). Although the progress of diagnostic techniques now allows comprehensive characterisation of each individual epilepsy condition from a molecular, biological, structural and clinical perspective, there remain challenges in the integration of individual data in clinical practice to achieve effective applications of precision medicine in this domain.

Identifiants

pubmed: 37755653
doi: 10.1007/s40291-023-00676-9
pii: 10.1007/s40291-023-00676-9
pmc: PMC10590329
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

661-672

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2023. The Author(s).

Références

Genome Med. 2009 Jan 20;1(1):2
pubmed: 19348689
Genome Biol. 2022 Dec 13;23(1):256
pubmed: 36514162
Epilepsia. 2022 Jul;63(7):1812-1821
pubmed: 35357695
Pediatr Neurol. 2018 Oct;87:48-56
pubmed: 30174244
Genome Med. 2023 May 8;15(1):34
pubmed: 37158973
Front Genet. 2023 Jan 04;13:1100016
pubmed: 36685871
Genet Med. 2019 Feb;21(2):398-408
pubmed: 30093711
BMC Med Ethics. 2013 Dec 21;14:55
pubmed: 24359531
Brain Commun. 2021 Apr 19;3(2):fcab068
pubmed: 34222868
Ann Neurol. 2012 Nov;72(5):807-15
pubmed: 23280796
Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):
pubmed: 35483875
Epilepsia. 2020 Sep;61(9):1818-1839
pubmed: 32783192
Lancet. 2016 Oct 29;388(10056):2153-2163
pubmed: 27613521
N Biotechnol. 2012 Sep 15;29(6):613-24
pubmed: 22450380
Brain. 2017 May 1;140(5):1316-1336
pubmed: 28379373
Acta Neuropathol. 2019 Dec;138(6):885-900
pubmed: 31444548
Epileptic Disord. 2021 Feb 1;23(1):1-16
pubmed: 33720020
Mol Genet Genomic Med. 2018 Mar;6(2):186-199
pubmed: 29314763
Epilepsia Open. 2023 Jun;8(2):517-534
pubmed: 36938796
Can J Neurol Sci. 2021 Mar;48(2):233-244
pubmed: 32741404
Nature. 2020 Feb;578(7794):229-236
pubmed: 32051598
Neurology. 2018 Jan 2;90(1):e67-e72
pubmed: 29196578
Cell Rep. 2022 Jan 11;38(2):110207
pubmed: 35021073
Front Neurol. 2019 May 21;10:434
pubmed: 31164858
Cell. 2017 Aug 24;170(5):828-843
pubmed: 28841416
Neurology. 2021 Feb 16;96(7):327-341
pubmed: 33361257
J Hist Med Allied Sci. 2013 Jan;68(1):1-48
pubmed: 21908852
Neurology. 2021 Oct 26;97(17):817-831
pubmed: 34493617
Epilepsia. 2023 Jul;64(7):e148-e155
pubmed: 37203213
Epilepsia. 2021 Mar;62 Suppl 2:S90-S105
pubmed: 32776321
Lancet. 2020 Dec 21;394(10216):2243-2254
pubmed: 31862249
J Child Neurol. 1996 Jan;11(1):41-3
pubmed: 8745384
JAMA Neurol. 2020 Mar 1;77(3):300-308
pubmed: 31790543
Neurology. 2016 Apr 26;86(17):1605-12
pubmed: 27029629
Neurology. 2021 Mar 16;96(11):529-540
pubmed: 33504638
J Clin Pharmacol. 2005 Nov;45(11):1218-20
pubmed: 16239353
Value Health. 2020 May;23(5):529-539
pubmed: 32389217
Lancet. 2014 Mar 15;383(9921):999-1008
pubmed: 24084292
Epilepsia. 2012 Dec;53(12):e204-7
pubmed: 23106342
J Clin Epidemiol. 2016 Aug;76:9-17
pubmed: 26272792
Am J Hum Genet. 2016 Dec 1;99(6):1261-1280
pubmed: 27839871
Eur J Hum Genet. 2019 Mar;27(3):408-421
pubmed: 30552426
Ann Neurol. 2014 Sep;76(3):457-61
pubmed: 25042079
Neurology. 2018 Jan 2;90(1):e55-e66
pubmed: 29196579
J Child Neurol. 2015 Feb;30(2):160-9
pubmed: 24789115
J Clin Invest. 2023 Jun 15;133(12):
pubmed: 37192002
Neuropharmacology. 2018 Apr;132:3-19
pubmed: 29037745
Physiol Rev. 2023 Jan 1;103(1):433-513
pubmed: 35951482
Hum Gene Ther. 2015 Jul;26(7):432-42
pubmed: 26086867
Brain. 2023 Sep 1;146(9):3885-3897
pubmed: 37006128
Nat Rev Neurol. 2016 Jul;12(7):379-92
pubmed: 27340022
Neurotherapeutics. 2019 Jul;16(3):848-857
pubmed: 31054119
Hum Mutat. 2022 Nov;43(11):1531-1544
pubmed: 36086952
Epileptic Disord. 2022 Dec 1;24(6):994-1019
pubmed: 36219093
Epilepsia. 2018 Apr;59(4):802-813
pubmed: 29574705
Ann Neurol. 2021 Feb;89(2):304-314
pubmed: 33180985
Nat Rev Neurol. 2018 Dec;14(12):735-745
pubmed: 30448857
Nat Genet. 2018 Sep;50(9):1219-1224
pubmed: 30104762
Ann Neurol. 2014 Apr;75(4):581-90
pubmed: 24591078
Nat Biotechnol. 2019 Feb;37(2):124-126
pubmed: 30670796
J Neurochem. 2021 Apr;157(2):229-262
pubmed: 32880951
Neuroscience. 2022 May 10;490:309-314
pubmed: 35304290
Nat Genet. 1998 Feb;18(2):188-91
pubmed: 9462754
Epilepsia. 2022 Feb;63(2):375-387
pubmed: 34893972
Lancet. 2000 Nov 11;356(9242):1638-42
pubmed: 11089822
Epilepsia. 2022 Oct;63(10):2461-2475
pubmed: 35716052
Lancet Neurol. 2019 May;18(5):459-480
pubmed: 30879893
J Transl Med. 2021 Jun 5;19(1):245
pubmed: 34090480
Hum Mol Genet. 2017 Feb 1;26(3):527-537
pubmed: 28053048
Epilepsy Res. 2001 May;45(1-3):37-40; discussion 41
pubmed: 11461791
Nat Rev Drug Discov. 2016 Dec;15(12):805-806
pubmed: 27739512
Lancet Neurol. 2020 Jan;19(1):29-30
pubmed: 31494010
J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1044-1052
pubmed: 33903184

Auteurs

S Balestrini (S)

Neuroscience Department, Meyer Children's Hospital IRCSS, Florence, Italy.
University of Florence, Florence, Italy.
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Chalfont Centre for Epilepsy, Chalfont St Peter, UK.

D Mei (D)

Neuroscience Department, Meyer Children's Hospital IRCSS, Florence, Italy.

S M Sisodiya (SM)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Chalfont Centre for Epilepsy, Chalfont St Peter, UK.

Renzo Guerrini (R)

Neuroscience Department, Meyer Children's Hospital IRCSS, Florence, Italy. r.guerrini@meyer.it.
University of Florence, Florence, Italy. r.guerrini@meyer.it.

Classifications MeSH