Return of genetic and genomic research findings: experience of a pediatric biorepository.
Cost of return
Genome sequencing
Navigating return
Primary findings
Return of research findings
Journal
BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628
Informations de publication
Date de publication:
27 11 2019
27 11 2019
Historique:
received:
23
04
2019
accepted:
11
11
2019
entrez:
29
11
2019
pubmed:
30
11
2019
medline:
20
5
2020
Statut:
epublish
Résumé
Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants. Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor. Action taken following receipt of this information was reviewed. Genetic data was generated in 1963 of 7408 participants. Fifty-nine new findings were presented to the RRR committee; 20 (34%) were deemed reportable. Twelve were returned to the physician, of which 7 were disclosed to participants (median time to disclosure, 192 days). Seven findings were returned to the research genetic counselor; all have been disclosed (median time to disclosure, 19 days). Twelve families (86%) opted for referral to clinical genetics after disclosure of findings; 7 results have been validated, 5 results are pending. Average cost of return and disclosure per reportable finding incurred by the research program was $750 when utilizing a research genetic counselor; clinical costs associated with return were not included. Return of actionable research findings was faster if disclosed directly to the participant by a research genetic counselor. There was a high acceptability amongst participants for receiving the findings, for referral to clinical genetics, and for clinical validation of research findings, with all referred cases being clinically confirmed.
Sections du résumé
BACKGROUND
Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants.
METHODS
Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor. Action taken following receipt of this information was reviewed.
RESULTS
Genetic data was generated in 1963 of 7408 participants. Fifty-nine new findings were presented to the RRR committee; 20 (34%) were deemed reportable. Twelve were returned to the physician, of which 7 were disclosed to participants (median time to disclosure, 192 days). Seven findings were returned to the research genetic counselor; all have been disclosed (median time to disclosure, 19 days). Twelve families (86%) opted for referral to clinical genetics after disclosure of findings; 7 results have been validated, 5 results are pending. Average cost of return and disclosure per reportable finding incurred by the research program was $750 when utilizing a research genetic counselor; clinical costs associated with return were not included.
CONCLUSIONS
Return of actionable research findings was faster if disclosed directly to the participant by a research genetic counselor. There was a high acceptability amongst participants for receiving the findings, for referral to clinical genetics, and for clinical validation of research findings, with all referred cases being clinically confirmed.
Identifiants
pubmed: 31775751
doi: 10.1186/s12920-019-0618-0
pii: 10.1186/s12920-019-0618-0
pmc: PMC6882371
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
173Références
CMAJ. 2004 Apr 27;170(9):1417-9
pubmed: 15111476
Science. 2007 May 11;316(5826):836-7
pubmed: 17495156
Genet Med. 2013 Jul;15(7):565-74
pubmed: 23788249
Genet Med. 2012 Apr;14(4):361-84
pubmed: 22436882
Eur J Hum Genet. 2013 Mar;21(3):245-7
pubmed: 22781095
J Empir Res Hum Res Ethics. 2010 Sep;5(3):31-41
pubmed: 20831419
Epilepsia. 2018 Sep;59(9):1635-1642
pubmed: 30098010
CMAJ. 2018 Feb 5;190(5):E126-E136
pubmed: 29431110
Eur J Hum Genet. 2014 Jan;22(1):3-5
pubmed: 23921532
Clin Genet. 2013 Nov;84(5):397-406
pubmed: 23662709
Am J Hum Genet. 2013 Oct 3;93(4):631-40
pubmed: 24055113
J Am Heart Assoc. 2013 May 31;2(3):e000064
pubmed: 23727699
Circ Cardiovasc Genet. 2016 Oct;9(5):448-467
pubmed: 27672144
Genome. 2015 Dec;58(12):541-8
pubmed: 26613133
Circ Cardiovasc Genet. 2010 Dec;3(6):574-80
pubmed: 21156933
Genet Med. 2012 Feb;14(2):215-22
pubmed: 22241094
Genet Med. 2019 May;21(5):1100-1110
pubmed: 30287922
Genet Med. 2013 Sep;15(9):684-90
pubmed: 23619276
J Med Ethics. 2014 Oct;40(10):691-6
pubmed: 24356209
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am J Hum Genet. 2018 Sep 6;103(3):328-337
pubmed: 30100086
Clin Genet. 2016 Feb;89(2):228-34
pubmed: 26080898
Am J Hum Genet. 2014 Jun 5;94(6):818-26
pubmed: 24814192
Pediatrics. 2012 Nov;130(5):e1198-205
pubmed: 23045559
Genet Med. 2013 Feb;15(2):103-5
pubmed: 22935716
J Law Med Ethics. 2015 Fall;43(3):502-13
pubmed: 26479559
Genet Med. 2013 Nov;15(11):882-7
pubmed: 23639901
Annu Rev Genomics Hum Genet. 2013;14:557-77
pubmed: 23875796
J Law Med Ethics. 2015 Fall;43(3):514-22
pubmed: 26479560
Eur J Med Genet. 2019 May;62(5):350-356
pubmed: 30503855
Genet Med. 2011 Jul;13(7):680-5
pubmed: 21681106
J Law Biosci. 2014 Feb 04;1(1):52-67
pubmed: 27774155
Hum Mutat. 2018 Nov;39(11):1677-1685
pubmed: 30311382
J Law Med Ethics. 2011 Winter;39(4):593-604
pubmed: 22084845
Curr Opin Pediatr. 2016 Dec;28(6):700-704
pubmed: 27606958
Genet Med. 2013 Mar;15(3):234-45
pubmed: 23429433
Eur J Hum Genet. 2019 Apr;27(4):535-546
pubmed: 30622328
Genome Res. 2015 Mar;25(3):305-15
pubmed: 25637381
Genet Med. 2013 Jul;15(7):558-64
pubmed: 23370450
Genet Med. 2017 Feb;19(2):249-255
pubmed: 27854360