Do research participants share genomic screening results with family members?

cascade testing communication family population screening predictive genetic testing

Journal

Journal of genetic counseling
ISSN: 1573-3599
Titre abrégé: J Genet Couns
Pays: United States
ID NLM: 9206865

Informations de publication

Date de publication:
04 2022
Historique:
revised: 30 08 2021
received: 23 01 2021
accepted: 04 09 2021
pubmed: 20 10 2021
medline: 6 4 2022
entrez: 19 10 2021
Statut: ppublish

Résumé

The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communication of results to family members. While the barriers and facilitators of family communication have been researched following clinical genetic testing, the factors impacting the dissemination of genomic screening results are unknown. Using the pragmatic Electronic Medical Records and Genomics Network-3 (eMERGE-3) study, we explored the reported sharing practices of participants who underwent genomic screening across the United States. Six eMERGE-3 sites returned genomic screening results for mostly dominant medically actionable disorders and surveyed adult participants regarding communication of results with first-degree relatives. Across the sites, 279 participants completed a 1-month and/or 6-month post-results survey. By 6 months, only 34% of the 156 respondents shared their results with all first-degree relatives and 4% did not share with any. Over a third (39%) first-degree relatives were not notified of the results. Half (53%) of participants who received their results from a genetics provider shared them with all first-degree relatives compared with 11% of participants who received their results from a non-genetics provider. The most frequent reasons for sharing were a feeling of obligation (72%) and that the information could help family members make medical decisions (72%). The most common reasons indicated for not sharing were that the family members were too young (38%), or they were not in contact (25%) or not close to them (25%). These data indicate that the professional returning the results may impact sharing patterns, suggesting that there is a need to continue to educate healthcare providers regarding approaches to facilitate sharing of genetic results within families. Finally, these data suggest that interventions to increase sharing may be universally effective regardless of the origin of the genetic result.

Identifiants

pubmed: 34665896
doi: 10.1002/jgc4.1511
pmc: PMC8983417
mid: NIHMS1777594
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

447-458

Subventions

Organisme : NHGRI NIH HHS
ID : U01 HG008676
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011172
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008657
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008672
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008684
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008679
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008666
Pays : United States
Organisme : NIMHD NIH HHS
ID : U54 MD007593
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008680
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008673
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008685
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG006379
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008664
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008701
Pays : United States

Informations de copyright

© 2021 National Society of Genetic Counselors.

Références

J Genet Couns. 2018 Sep;27(5):1022-1039
pubmed: 29492742
J Cardiovasc Nurs. 2015 Jul-Aug;30(4):E1-E12
pubmed: 24831729
J Genet Couns. 2015 Aug;24(4):645-53
pubmed: 25502223
J Genet Couns. 2017 Feb;26(1):173-181
pubmed: 27422778
J Genet Couns. 2018 Jun;27(3):689-701
pubmed: 29094272
Genet Med. 2020 Nov;22(11):1821-1829
pubmed: 32669677
Fam Cancer. 2016 Oct;15(4):697-706
pubmed: 26897130
Eur J Hum Genet. 2016 Mar;24(3):356-60
pubmed: 26130486
J Natl Cancer Inst. 2018 Sep 1;110(9):985-993
pubmed: 29490071
Am J Hum Genet. 2019 Sep 5;105(3):588-605
pubmed: 31447099
Front Public Health. 2017 Aug 04;5:195
pubmed: 28824901
Public Health Genomics. 2015;18(2):67-77
pubmed: 25427996
Am J Med Genet. 2002 Jan 15;107(2):143-50
pubmed: 11807889
J Genet Couns. 2020 Jun;29(3):410-422
pubmed: 31912597
J Pers Med. 2020 May 13;10(2):
pubmed: 32413979
Genet Med. 2013 Jul;15(7):565-74
pubmed: 23788249
Am J Public Health. 2009 Dec;99(12):2203-9
pubmed: 19833996
J Genet Couns. 2016 Jun;25(3):422-31
pubmed: 26407988
Clin Gastroenterol Hepatol. 2008 Mar;6(3):333-8
pubmed: 18258490
J Pers Med. 2020 Apr 27;10(2):
pubmed: 32349224
Clin Genet. 2019 Feb;95(2):293-301
pubmed: 30417332
J Clin Oncol. 2006 Feb 1;24(4):700-6
pubmed: 16446344
Genet Med. 2008 Jul;10(7):502-7
pubmed: 18580691
Cancer Epidemiol Biomarkers Prev. 2010 Sep;19(9):2211-9
pubmed: 20699375
J Genet Couns. 2016 Jun;25(3):454-60
pubmed: 26416185
Fam Cancer. 2013 Sep;12(3):537-46
pubmed: 23420550
Genet Med. 2018 Nov;20(11):1446-1454
pubmed: 29595811
Public Health Genomics. 2016;19(1):34-46
pubmed: 26555145
Healthcare (Basel). 2018 Jul 13;6(3):
pubmed: 30011878
Heart Rhythm. 2018 May;15(5):780-786
pubmed: 29175646
Patient Educ Couns. 2021 May;104(5):944-952
pubmed: 33129629
Genet Med. 2018 Jan;20(1):132-141
pubmed: 28726810
Transl Behav Med. 2021 Mar 16;11(2):563-572
pubmed: 32579152
Genet Test. 2008 Mar;12(1):81-91
pubmed: 18373407
J Genet Couns. 2006 Feb;15(1):29-40
pubmed: 16468088
J Genet Couns. 2019 Jun;28(3):516-532
pubmed: 30694012
Cancers (Basel). 2021 Feb 23;13(4):
pubmed: 33672149
J Womens Health (Larchmt). 2018 May;27(5):630-639
pubmed: 29377785
Genet Med. 2015 Mar;17(3):169-76
pubmed: 25210938

Auteurs

Julia Wynn (J)

Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.

Hila Milo Rasouly (H)

Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.

Tania Vasquez-Loarte (T)

Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.

Akilan M Saami (AM)

Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Department of Epidemiology, Columbia University Mailman School of Public Health, New York, NY, USA.

Robyn Weiss (R)

Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.

Sonja I Ziniel (SI)

Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO, USA.

Paul S Appelbaum (PS)

Department of Psychiatry, Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavior Genetics, Columbia University Irving Medical Center, New York, NY, USA.

Ellen Wright Clayton (E)

Center for Biomedical Ethics and Society and Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.

Kurt D Christensen (KD)

Department of Population Medicine, Precision Medicine Translational Research (PROMoTeR) Center, Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Department of Population Medicine, Harvard Medical School, Boston, MA, USA.

David Fasel (D)

Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA.

Robert C Green (RC)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Heather S Hain (HS)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Margaret Harr (M)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Christin Hoell (C)

Center for Genetic Medicine, Northwestern University, Chicago, IL, USA.

Iftikhar J Kullo (IJ)

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.

Kathleen A Leppig (KA)

Genetic Services and Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA, USA.

Melanie F Myers (MF)

Divisions of Human Genetics and Patient Services, Children's Hospital Medical Center, Cincinnati, OH, USA.

Joel E Pacyna (JE)

Biomedical Ethics Program, Mayo Clinic, Rochester, MN, USA.

Emma F Perez (EF)

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Cynthia A Prows (CA)

Divisions of Human Genetics and Patient Services, Children's Hospital Medical Center, Cincinnati, OH, USA.

Alanna Kulchak Rahm (A)

Genomic Medicine Institute, Geisinger, Danville, PA, USA.

Gemme Campbell-Salome (G)

Genomic Medicine Institute, Geisinger, Danville, PA, USA.

Richard R Sharp (RR)

Biomedical Ethics Program, Mayo Clinic, Rochester, MN, USA.

Maureen E Smith (ME)

Center for Genetic Medicine, Northwestern University, Chicago, IL, USA.

Georgia L Wiesner (GL)

Division of Genetic Medicine, Department of Medicine, and Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.

Janet L Williams (JL)

Genomic Medicine Institute, Geisinger, Danville, PA, USA.

Carrie L Blout Zawatsky (CL)

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Ali G Gharavi (AG)

Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.

Wendy K Chung (WK)

Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.

Ingrid A Holm (IA)

Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA, USA.
Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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