Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.
genetic kidney disease
genomic implementation
implementation science
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
02
07
2020
revised:
12
10
2020
accepted:
27
10
2020
entrez:
22
2
2021
pubmed:
23
2
2021
medline:
23
2
2021
Statut:
epublish
Résumé
Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology. An anonymous electronic survey was administered to investigate experience and confidence with genomic tests, perceived clinical utility of genomic services, preferences for service delivery models, and readiness for implementation among nephrologists. Questions were guided by a comprehensive literature review and published tools, including a validated theoretical framework for implementation of genomic medicine: Consolidated Framework for Implementation Research (CFIR). Responses were received from 224 clinicians, of which 172 were eligible for analysis. Most clinicians (132 [76%]) had referred at least one patient to a genetics clinic. Despite most clinicians (136 [85%]) indicating that they believed genetic testing would be useful, only 39 (23%) indicated they felt confident to use results of genomic testing, with pediatric clinicians feeling more confident compared with adult clinicians (12 of 20 [60%] vs. 27 of 149 [18%]), Our findings suggest support for genomic testing among nephrologists, with a strong preference for a multidisciplinary model (involving a nephrologist, clinical geneticist, and genetic counselor). Broad-ranging interventions are urgently required to shift the current culture and ensure successful implementation of genomics in nephrology, including reducing knowledge gaps, increased funding and resources, disease-specific guidelines, and streamlining of testing processes.
Identifiants
pubmed: 33615052
doi: 10.1016/j.ekir.2020.10.030
pii: S2468-0249(20)31701-0
pmc: PMC7879212
doi:
Types de publication
Journal Article
Langues
eng
Pagination
272-283Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2020 Published by Elsevier, Inc., on behalf of the International Society of Nephrology.
Références
Am J Hum Genet. 2019 Jul 3;105(1):7-14
pubmed: 31271757
Eur J Hum Genet. 2019 Oct;27(10):1493-1501
pubmed: 31148592
Genet Med. 2020 Sep;22(9):1437-1449
pubmed: 32576987
Eur J Hum Genet. 2018 Oct;26(10):1401-1416
pubmed: 29891880
Ann Intern Med. 2018 Jan 16;168(2):100-109
pubmed: 29204651
Implement Sci. 2009 Aug 07;4:50
pubmed: 19664226
J Clin Med. 2019 Feb 03;8(2):
pubmed: 30717445
Clin Genet. 2012 Oct;82(4):388-94
pubmed: 22698141
J Genet Couns. 2019 Apr;28(2):367-377
pubmed: 30779404
NPJ Genom Med. 2017 May 1;2:16
pubmed: 29263830
Front Genet. 2020 Mar 03;11:59
pubmed: 32194615
BMJ Open. 2019 Aug 5;9(8):e029541
pubmed: 31383705
J Genet Couns. 2018 Feb;27(1):187-196
pubmed: 28840409
J Biomed Inform. 2009 Apr;42(2):377-81
pubmed: 18929686
Genet Med. 2021 Jan;23(1):183-191
pubmed: 32939031
Cancer. 2017 Jun 15;123(12):2352-2359
pubmed: 28192596
Clin J Am Soc Nephrol. 2010 Mar;5(3):490-6
pubmed: 20089491
Genet Med. 2018 Jun;20(6):655-663
pubmed: 28914267
N Engl J Med. 2019 Jan 10;380(2):142-151
pubmed: 30586318
Kidney Int. 2019 Apr;95(4):914-928
pubmed: 30773290
Transplantation. 2018 Jan;102(1):146-153
pubmed: 28731903
Genet Med. 2020 Jan;22(1):227-231
pubmed: 31417191
Eur J Hum Genet. 2017 Jun;25(7):801-808
pubmed: 28488681
Genet Med. 2017 Aug;19(8):858-863
pubmed: 28079898
Am J Hum Genet. 2019 Jan 3;104(1):13-20
pubmed: 30609404
Prog Transplant. 2020 Mar;30(1):22-28
pubmed: 31838940
Nephrology (Carlton). 2019 Mar;24(3):279-286
pubmed: 30239064
Genet Med. 2003 Sep-Oct;5(5):364-9
pubmed: 14501831
Genet Med. 2020 Jul;22(7):1149-1155
pubmed: 32313152
Front Genet. 2020 Mar 03;11:151
pubmed: 32194628
Hum Genet. 2014 Jan;133(1):111-6
pubmed: 24036677
Front Genet. 2019 Sep 11;10:789
pubmed: 31572433
Genet Med. 2020 Jun;22(6):1025-1035
pubmed: 32203225
J Pers Med. 2018 Jul 24;8(3):
pubmed: 30042363
Life (Basel). 2020 Mar 26;10(4):
pubmed: 32224869