Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial.
clinical utility
genomic sequencing
health care services use and costs
incidental findings
randomized controlled trial
secondary findings
Journal
BMJ open
ISSN: 2044-6055
Titre abrégé: BMJ Open
Pays: England
ID NLM: 101552874
Informations de publication
Date de publication:
07 10 2019
07 10 2019
Historique:
entrez:
10
10
2019
pubmed:
9
10
2019
medline:
24
10
2020
Statut:
epublish
Résumé
Genomic sequencing has rapidly transitioned into clinical practice, improving diagnosis and treatment options for patients with hereditary disorders. However, large-scale implementation of genomic sequencing faces challenges, especially with regard to the return of incidental results, which refer to genetic variants uncovered during testing that are unrelated to the primary disease under investigation, but of potential clinical significance. High-quality evidence evaluating health outcomes and costs of receiving incidental results is critical for the adoption of genomic sequencing into clinical care and to understand the unintended consequences of adoption of genomic sequencing. We aim to evaluate the health outcomes and costs of receiving incidental results for patients undergoing genomic sequencing. We will compare health outcomes and costs of receiving, versus not receiving, incidental results for adult patients with cancer undergoing genomic sequencing in a mixed-methods randomised controlled trial. Two hundred and sixty patients who have previously undergone first or second-tier genetic testing for cancer and received uninformative results will be recruited from familial cancer clinics in Toronto, Ontario. Participants in both arms will receive cancer-related results. Participants in the intervention arm have the option to receive incidental results. Our primary outcome is psychological distress at 2 weeks following return of results. Secondary outcomes include behavioural consequences, clinical and personal utility assessed over the 12 months after results are returned and health service use and costs at 12 months and 5 years. A subset of participants and providers will complete qualitative interviews about utility of incidental results. This study has been approved by Clinical Trials Ontario Streamlined Research Ethics Review System that provides ethical review and oversight for multiple sites participating in the same clinical trial in Ontario.Results from the trial will be shared through stakeholder workshops, national and international conferences, and peer-reviewed journals. NCT03597165.
Identifiants
pubmed: 31594892
pii: bmjopen-2019-031092
doi: 10.1136/bmjopen-2019-031092
pmc: PMC6797333
doi:
Banques de données
ClinicalTrials.gov
['NCT03597165']
Types de publication
Clinical Trial Protocol
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e031092Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : CIHR
Pays : Canada
Informations de copyright
© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Nurse Res. 2006 Jul 1;13(4):84
pubmed: 27702218
Health Psychol. 2009 May;28(3):307-16
pubmed: 19450036
Parkinsonism Relat Disord. 2013 Apr;19(4):407-15
pubmed: 23462481
Genet Med. 2016 Dec;18(12):1258-1268
pubmed: 27124788
Qual Life Res. 1998 Feb;7(2):155-66
pubmed: 9523497
Health Econ. 2005 Apr;14(4):421-8
pubmed: 15685641
Genet Med. 2017 Feb;19(2):249-255
pubmed: 27854360
Clin Genet. 2013 Jul;84(1):11-8
pubmed: 23590238
Perspect Clin Res. 2011 Jul;2(3):109-12
pubmed: 21897887
BMJ. 2009 Jun 09;338:b2175
pubmed: 19509425
Med Care. 1993 Nov;31(11):989-1001
pubmed: 8231339
Annu Rev Public Health. 2009;30:43-54
pubmed: 19705555
Gen Hosp Psychiatry. 2016 Sep-Oct;42:32-5
pubmed: 27638969
Ethics Behav. 2015 Jul 1;25(4):332-350
pubmed: 26877623
Brain Behav. 2016 Feb 08;6(3):e00428
pubmed: 26893955
Health Psychol. 2009 Jul;28(4):510-8
pubmed: 19594276
Value Health. 2008 May-Jun;11(3):497-508
pubmed: 18489673
Metabolism. 2015 Mar;64(3 Suppl 1):S16-21
pubmed: 25468140
Br J Cancer. 2004 Nov 15;91(10):1787-94
pubmed: 15505627
Clin Genet. 2017 Aug;92(2):172-179
pubmed: 27925165
Med Decis Making. 1995 Jan-Mar;15(1):25-30
pubmed: 7898294
Genet Med. 2011 Jun;13(6):499-504
pubmed: 21558861
Health Psychol. 1997 Jan;16(1):8-19
pubmed: 9028812
Genet Med. 2017 Jul;19(7):803-808
pubmed: 28079899
Clin Genet. 2012 Nov;82(5):408-15
pubmed: 22694298
N Engl J Med. 2015 Jun 4;372(23):2235-42
pubmed: 26014595
NPJ Genom Med. 2016 Jan 13;1:
pubmed: 28567303
Behav Res Ther. 2003 Dec;41(12):1489-96
pubmed: 14705607
Am J Hum Genet. 2013 Oct 3;93(4):631-40
pubmed: 24055113
Br J Cancer. 2007 Mar 26;96(6):868-74
pubmed: 17311020
Eur J Hum Genet. 2015 Dec;23(12):1601-6
pubmed: 26036857
ANS Adv Nurs Sci. 1993 Dec;16(2):1-8
pubmed: 8311428
Res Nurs Health. 1995 Apr;18(2):179-83
pubmed: 7899572
J Health Serv Res Policy. 2004 Oct;9(4):197-204
pubmed: 15509405
N Engl J Med. 2009 Jul 16;361(3):245-54
pubmed: 19605829
Genet Med. 2018 Oct;20(10):1122-1130
pubmed: 29446766
Clin Genet. 2004 Dec;66(6):502-11
pubmed: 15521977
Genet Med. 2018 Mar;20(3):320-328
pubmed: 29261176
Fam Cancer. 2004;3(2):109-16
pubmed: 15340261
Eur J Hum Genet. 2013 Mar;21(3):261-5
pubmed: 22892536
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Consult Clin Psychol. 1982 Jun;50(3):407-14
pubmed: 7096742
J Health Commun. 1996 Oct-Dec;1(4):317-41
pubmed: 10947367
Am J Hum Genet. 2014 Jun 5;94(6):818-26
pubmed: 24814192
Genet Med. 2014 May;16(5):395-9
pubmed: 24113345
J Health Econ. 2002 Jul;21(4):601-25
pubmed: 12146593
BMJ Open. 2018 Apr 26;8(4):e021876
pubmed: 29700101
CMAJ. 2015 Apr 7;187(6):E190-E197
pubmed: 25754703
Psychosom Med. 1979 May;41(3):209-18
pubmed: 472086
BMJ. 2013 Jan 08;346:e7586
pubmed: 23303884
J Natl Compr Canc Netw. 2013 Nov;11(11):1343-53
pubmed: 24225968
Genet Med. 2009 Jan;11(1):3-14
pubmed: 18813139
J Med Genet. 2015 Jul;52(7):431-7
pubmed: 25951830
Drug Discov Today. 2015 Dec;20(12):1422-8
pubmed: 26320725
J Adv Nurs. 1997 Sep;26(3):623-30
pubmed: 9378886
JAMA. 1996 Jun 26;275(24):1885-92
pubmed: 8648868
Eur J Hum Genet. 2018 Jul;26(7):984-995
pubmed: 29703952
Nurs Res. 1991 Mar-Apr;40(2):120-3
pubmed: 2003072
Am J Hum Genet. 2019 Apr 4;104(4):578-595
pubmed: 30951675
J Psychosom Res. 2007 Jul;63(1):83-91
pubmed: 17586341
JAMA Oncol. 2016 May 01;2(5):616-624
pubmed: 26822237
Ann Intern Med. 2013 Feb 5;158(3):200-7
pubmed: 23295957
Eur J Hum Genet. 2014 Mar;22(3):391-5
pubmed: 23860039
Genet Med. 2012 Jul;14(7):681-7
pubmed: 22481132
Genet Med. 2016 Dec;18(12):1218-1225
pubmed: 27101135
Sci Transl Med. 2010 Jun 23;2(37):37cm19
pubmed: 20574066
Parkinsonism Relat Disord. 2013 Oct;19(10):869-77
pubmed: 23787135
Genet Med. 2017 Apr;19(4):403-411
pubmed: 27608173
J Oncol Pract. 2017 Jul;13(7):e590-e601
pubmed: 28628391
Genome Med. 2015 Jun 13;7(1):54
pubmed: 26195989
Genome Res. 2015 Mar;25(3):305-15
pubmed: 25637381
Genet Test Mol Biomarkers. 2017 Mar;21(3):184-194
pubmed: 28146641
Per Med. 2016 Jan 1;13(1):13-20
pubmed: 27019659
Eur J Hum Genet. 2013 Jun;21(6):580-4
pubmed: 23676617